| A novel mutation in <i>CDKN1C</i> in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases |
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| Corrigendum to “The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research” |
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| Non‐familial cases of intellectual disability could be linked to de novo genetic mutations |
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| Online repository lets researchers view newborn blood spots in several states simultaneously |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 161A, Number 1, January 2013 |
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| Table of Contents, Volume 161A, Number 1, January 2013 |
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| Thoracic aortic disease in two patients with juvenile polyposis syndrome and <i>SMAD4</i> mutations |
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| Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis |
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| Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy |
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✓ |
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| Uterine structural anomalies and arthrogryposis—death of an urban legend |
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| A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia |
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| Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome |
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| Severe craniosynostosis in an infant with deletion 22q11.2 syndrome |
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| A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask‐like facial syndrome |
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| Severe hypertrophic cardiomyopathy in Noonan syndrome—consider sequencing genes encoding sarcomeric proteins |
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| Maternal perspectives on the return of genetic results: Context matters |
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✓ |
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| Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations |
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| Newborn screening and cascade testing for <i>FMR1</i> mutations |
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| Delayed onset congenital hypothyroidism in a patient with <i>DUOX2</i> mutations and maternal iodine excess |
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| Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci |
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| Syndromes A, syndromes B, syndromes C |
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| Characterization of fat distribution in Prader–Willi syndrome: Relationships with adipocytokines and influence of growth hormone treatment |
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| Weaver syndrome and defective cortical development: A rare association |
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| Hypertrophic cardiomyopathy: How far should we go with genetic testing? |
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| “It's about having the choice”: Stakeholder perceptions of population‐based genetic carrier screening for fragile X syndrome |
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| The practice of adult genetics: A 7‐year experience from a single center |
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| Behavior in preschool children with the 22q11.2 deletion syndrome |
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| Increase in central striatal dopamine transporters in patients with Shwachman–Diamond syndrome: Additional evidence of a brain phenotype |
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| “Mandibulofacial dysostosis with microcephaly” caused by <i>EFTUD2</i> mutations: Expanding the phenotype |
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| Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel <i>FOXC1</i> mutation |
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| Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues |
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| Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome |
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Japanese patients |
| A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia |
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| Co‐existence of 9p deletion and Silver‐Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11 |
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| Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion |
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| Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array |
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| A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing |
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| The prevalence of lip vermilion morphological traits in a 15‐year‐old population |
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✓ |
ethnic groups |
| Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures? |
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| Clinical utility of the X‐chromosome array |
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| In this issue |
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| Table of Contents, Volume 158A, Number 12, December 2012 |
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| Newborn screening for Duchenne muscular dystrophy gains support |
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| Genetic modifier to chromatin may contribute to 22q11 deletion/VCF/DiGeorge syndrome variability |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 12, December 2012 |
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| Functional independence of Taiwanese children with VACTERL association |
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| Increased risk of breast cancer in women with NF1 |
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| Mosaic 18q21.2 deletions including the <i>TCF4</i> gene: A clinical report |
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| A family‐based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia |
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| Three polymorphisms in <i>IRF6</i> and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies |
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| An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum |
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| Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks |
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| Seizure characteristics in Pallister–Killian syndrome |
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| Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine‐dependent epilepsy |
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| Clinical geneticists' views of VACTERL/VATER association |
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| Clinical and radiological features of Japanese patients with a severe phenotype due to <i>CASK</i> mutations |
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| Developmental and behavioral characteristics of individuals with Pallister–Killian syndrome |
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| Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact <i>NKX2‐1</i> |
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| Incidental findings in genetic research and clinical diagnostic tests: A systematic review |
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| Book review: Craniofacial Embryogenetics and Development. 2nd edition. By Sperber GH, Sperber SM, Guttman GD, editors. People's Medical Publishing House, Shelton CT, 2010. pp. 250. (ISBN 10: 1–60795–0 |
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| Floating–Harbor syndrome and polycystic kidneys associated with <i>SRCAP</i> mutation |
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| Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome |
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| Phelan–McDermid syndrome: Clinical report of a 70‐year‐old woman |
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| Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome |
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| Pallister–Killian syndrome: Historical perspective and foreword |
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| Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases |
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| Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region |
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| Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome? |
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| Neuroimaging and neurological findings in patients with hypochondroplasia and <i>FGFR3</i> N540K mutation |
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| Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features |
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| 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review |
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| Speech and hearing in adults with 22q11.2 deletion syndrome |
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| An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review |
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| Association of interactions among the <i>IRF6</i> gene, the 8q24 region, and maternal folic acid intake with non‐syndromic cleft lip/palate in Mexican Mestizos |
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Mexican Mestizos |
| A 0.7 Mb de novo duplication at 7q21.3 including the genes <i>DLX5</i> and <i>DLX6</i> in a patient with split‐hand/split‐foot malformation |
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| Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome |
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| Word smithing in medical genetics. Part II |
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| Perspectives on asymmetry: The erickson lecture |
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| Gene therapy awaits approval in Europe |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 11, November 2012 |
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| Rasopathy diagnosis advances |
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| Table of Contents, Volume 158A, Number 11, November 2012 |
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| The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study |
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| Special section. Syndrome‐specific growth charts |
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| Overt cleft palate phenotype and<i>TBX1</i>genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients |
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| A homozygous balanced reciprocal translocation suggests <i>LINC00237</i> as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome |
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| Growth charts of Turkish children with Down syndrome |
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| A rare association of fibromuscular dysplasia, renal agenesis, renal arteriovenous fistulae, and vertebral anomalies: Expanding the V in VACTERL association |
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| 2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster |
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| Apolipoprotein E genotype and neurological disease onset in Niemann–Pick disease, type C1 |
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| Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder |
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| MGAT2‐CDG (CDG‐IIa) and dysmorphism |
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| Healthcare reform law benefits children with genetic diseases |
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| In This Issue |
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| Young Spanish researcher wins Opitz award |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 10, October 2012 |
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| Table of Contents, Volume 158A, Number 10, October 2012 |
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| Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke–Davidoff–Masson type in two patients |
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| Disease‐specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011 |
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| Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases |
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| An inherited <i>LMNA</i> gene mutation in atypical Progeria syndrome |
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Moroccan |
| Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations |
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| Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia |
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| A homozygous <i>IER3IP1</i> mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) |
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consanguineous Egyptian families |
| Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability |
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Iranian |
| Opposing phenotypes in mice with Smith–Magenis deletion and Potocki–Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior |
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| A new report of Cornelia de Lange syndrome associated with split hand and feet |
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| Risk for ingestion of toxic substances in children with Prader–Willi syndrome |
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| Sleep‐disordered breathing in Beckwith–Wiedemann syndrome: Three patients |
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| Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype |
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| <i>GPSM2</i> mutations in Chudley–McCullough syndrome |
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| Marked variability in the radiographic features of cartilage‐hair hypoplasia: Case report and review of the literature |
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| Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30–49 years? |
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| 12q14 microdeletion associated with <i>HMGA2</i> gene disruption and growth restriction |
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| Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome |
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| Polymorphic haplotypes of <i>CRELD1</i> differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect |
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| Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes |
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| Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting <i>GRB10</i> |
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| Unstable transmission of a familial complex chromosome rearrangement |
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| Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel <i>COL1A1</i> mutation |
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| Analysis of the <i>WISP3</i> gene in Indian families with progressive pseudorheumatoid dysplasia |
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Indian |
| <i>WDR35</i> mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype |
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| Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2 |
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| Central nervous system malformations and deformations in <i>FGFR2</i>‐related craniosynostosis |
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| Incidental finding of alpha‐methylacyl‐CoA racemase deficiency in a patient with oculocutaneous albinism type 4 |
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| Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: A new syndrome? |
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| Atypical findings in three patients with Pai syndrome and literature review |
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| Grange syndrome: An identifiable cause of stroke in young adults |
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| The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it? |
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| The signature of craniofacial deformation in fibrodysplasia ossificans progressiva |
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| Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype |
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| Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area |
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| Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis |
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| Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies |
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✓ |
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| Duplication of <i>OCRL</i> and adjacent genes associated with autism but not Lowe syndrome |
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| Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: A newly recognized syndrome? |
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| Wisconsin Stillbirth Service Program: Analysis of large for gestational age cases |
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| Familial 25.3 Mb inverted duplication of bands q32.1 to q35.1 on chromosome 4 with psychomotor impairments |
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| A novel contiguous gene deletion of <i>AVPR2</i> and <i>ARHGAP4</i> genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability |
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| Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving <i>BMP2</i> |
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| Interstitial deletion of 11q‐implicating the <i>KIRREL3</i> gene in the neurocognitive delay associated with Jacobsen syndrome |
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| Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability |
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| Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis |
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| The world and medical genetics has lost a great “man for all seasons.” Early in the morning of May 27, 2012 |
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| Clinical expression in Pfeiffer syndrome type 2 and 3: Surveillance in Japan |
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| 2010 and 2011 American Journal of Medical Genetics Reviewer Listing |
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| Table of Contents, Volume 158A, Number 9, September 2012 |
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| New technologies pave way for fetal personalized medicine |
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| Long‐term follow‐up of newborn screening often falls short |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 9, September 2012 |
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| In This Issue |
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| Assessing pre‐implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures |
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| Unanticipated results from exome sequencing/whole genome sequencing: The sky won't fall |
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| De novo interstitial duplication of 15q11.2–q13.1 with complex maternal uniparental trisomy for the 15q11–q13 region in a patient with Prader–Willi syndrome |
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| Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions |
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| “I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing |
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| Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings |
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| New proposed clinico‐radiologic and molecular criteria in hypochondroplasia: <i>FGFR</i> 3 gene mutations are not the only cause of hypochondroplasia |
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| Life‐history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome |
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| Trisomy 21 mosaicism and maternal age |
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| Development and implementation of electronic growth charts for infants with Prader–Willi syndrome |
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| Why genomics shouldn't get too personal: In favor of filters |
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| Pre‐ and postnatal phenotype of 6p25 deletions involving the <i>FOXC1</i> gene |
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| Maternal and infant gene–folate interactions and the risk of neural tube defects |
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| 17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability |
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| Analysis of selected maternal exposures and non‐syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005. |
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| De novo 13q12.3–q14.11 deletion involving <i>BRCA2</i> gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype |
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| Microdeletion on 3p25 in a patient with features of 3p deletion syndrome |
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| Immune‐mediated disorders among women carriers of fragile X premutation alleles |
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| A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran |
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| A novel mutation in the <i>SHH</i> long‐range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency |
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| Metastatic medulloblastoma in an adolescent with Simpson–Golabi–Behmel syndrome |
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✓ |
✓ |
Hispanic |
| Phenotypic variability of atypical 22q11.2 deletions not including<i>TBX1</i> |
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| Socio‐economic factors affect mortality in 47,XYY syndrome—A comparison with the background population and Klinefelter syndrome |
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| Tissue‐limited ring chromosome 18 mosaicism as a cause of Pitt–Hopkins syndrome |
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| Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting |
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| Non‐invasive fetal genome sequencing: Opportunities and challenges |
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| A novel nonsense <i>CDK5RAP2</i> mutation in a Somali child with primary microcephaly and sensorineural hearing loss |
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| 12q14 microdeletion syndrome and short stature with or without relative macrocephaly |
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| Thymidylate synthase polymorphisms and risk of conotruncal heart defects |
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| The National Children's Study. Abstracts of the National Children's Study research day 2011 |
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| Constitutional <i>NRAS</i> mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia |
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| Anthropometric measurements in Egyptian patients with osteogenesis imperfecta |
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| Achondroplasia‐hypochondroplasia complex and abnormal pulmonary anatomy |
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| Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome? |
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| Phenotype in novel Xp duplication |
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| Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy |
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| SMARCAL1 deficiency predisposes to non‐Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo |
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| Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures? |
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| Normative growth charts for individuals with Costello syndrome |
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| SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome |
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| Assessment of bone mineral status in children with Marfan syndrome |
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| Expression analysis of a 17p terminal deletion, including <i>YWHAE</i>, but not <i>PAFAH1B1</i>, associated with normal brain structure on MRI in a young girl |
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| Growth charts for 22q11 deletion syndrome |
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| <i>IMPAD1</i> mutations in two Catel‐Manzke like patients |
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| A case of de Barsy syndrome with a severe eye phenotype |
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| IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population |
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| BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1) |
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| 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum |
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| Growth in Chilean infants with chromosome 22q11 microdeletion syndrome |
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✓ |
✓ |
Chilean |
| Genotype–phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome |
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| Growth standards of patients with Noonan and Noonan‐like syndromes with mutations in the RAS/MAPK pathway |
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| Severe lateral tibial bowing with short stature in two siblings—A provisionally novel syndrome |
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| Screening for <i>MYO15A</i> gene mutations in autosomal recessive nonsyndromic, <i>GJB2</i> negative Iranian deaf population |
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✓ |
✓ |
Iranian |
| Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype |
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| Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome |
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| Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype |
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| Chronic tibial nonunion in a Rothmund–Thomson syndrome patient |
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| Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel <i>ADAR1</i> mutation |
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✓ |
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| A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male–male transmission |
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| Pleural malignancy in a 22‐year‐old female with a chromosome 22q13 deletion |
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| The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research |
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| Too many children with autism miss genetics evaluations |
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| More states screen for severe combined immunodeficiency |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 8, August 2012 |
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| Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations |
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| Identification of the mechanism underlying a human chimera by SNP array analysis |
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| Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions |
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| Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication |
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| Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in <i>AGXT</i> and a terminal deletion of chromosome 2 |
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| Germline mosaicism of <i>PHOX2B</i> mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS) |
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| In This Issue |
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| Table of Contents, Volume 158A, Number 8, August 2012 |
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| A novel <i>HRAS</i> substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development |
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| Growth charts of Down syndrome in Egypt: A study of 434 children 0–36 months of age |
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| Pseudoaminopterin syndrome |
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✓ |
✓ |
Algerian |
| Medium chain acyl‐CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening |
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✓ |
✓ |
Hispanic; Hispanic American; non-Hispanic American |
| Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort |
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| Infants' <i>MTHFR</i> polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control studies |
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✓ |
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| Case report: Noonan syndrome with multiple giant cell lesions and review of the literature |
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| De novo microdeletion of 5q14.3 excluding <i>MEF2C</i> in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum |
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| Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus |
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| Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II |
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| Growth curves of Egyptian patients with Turner syndrome |
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✓ |
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UK and European patients |
| Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region |
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| Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family |
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| Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash |
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| Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization |
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| Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients |
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✓ |
✓ |
Italian |
| Simpson–Golabi–Behmel syndrome type 1 in a 27‐week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia |
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| Norrie disease: Extraocular clinical manifestations in 56 patients |
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| A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre‐axial polydactyly, post‐axial polydactyly, and syndactyly |
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✓ |
✓ |
Balochi tribal family from Southern Punjab, Pakistan |
| Profound microcephaly, primordial dwarfism with developmental brain malformations: A new syndrome |
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| Congenital corneal staphyloma as a complication of Kabuki syndrome |
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| Cognition in nephropathic cystinosis: Pattern of expression in heterozygous carriers |
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| Microduplication of 3p25.2 encompassing <i>RAF1</i> associated with congenital heart disease suggestive of Noonan syndrome |
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| DPAGT1‐CDG: Report of a patient with fetal hypokinesia phenotype |
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| Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients |
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| A family with radio‐ulnar synostosis, scoliosis, and thick vermilion of lips: A novel syndrome or variant of Giuffrè–Tsukahara syndrome? |
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| Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach |
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| Antibody deficiency in adults with 22q11.2 deletion syndrome |
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| Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to <i>ZBTB24</i> mutations, presenting with large cerebral cyst |
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| Genetic studies in congenital anterior midline cervical cleft |
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| Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability |
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| Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,‐21/44,X,‐21 in a single study population |
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| Dose dependent expression of <i>HDAC4</i> causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome |
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| Narrative medicine in clinical genetics practice |
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| Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema |
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| Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome |
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| A novel de novo missense mutation in <i>TP63</i> underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis |
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| Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnancies |
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| Acro‐cardio‐facial syndrome: A microdeletion syndrome? |
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| Specific association of missense mutations in <i>CRELD1</i> with cardiac atrioventricular septal defects in heterotaxy syndrome |
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| Analysis of <i>MLL2</i> gene in the first Brazilian family with Kabuki syndrome |
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| <i>Filamin A</i> mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia |
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| Syndrome‐specific growth charts for 22q11.2 deletion syndrome in Caucasian children |
✓ |
✓ |
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| Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation |
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| A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay |
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| Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes |
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| In This Issue |
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| Table of Contents, Volume 158A, Number 7, July 2012 |
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| A new syndrome of microtia with unilateral renal agenesis and short stature |
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| Heterozygous tandem duplication within the <i>PTCH1</i> gene results in nevoid basal cell carcinoma syndrome |
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| The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases |
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| Laryngeal malformation in Richieri‐Costa Pereira syndrome: New findings |
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| Wheat flour fortification with folic acid: Changes in neural tube defects rates in Chile |
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| Antiepileptic drugs and pregnancy outcomes |
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| Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome |
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| First case of a Japanese girl with Myhre syndrome due to a heterozygous <i>SMAD4</i> mutation |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 7, July 2012 |
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| Corrigendum to “Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93–127” |
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| Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature |
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| Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of <i>COL2A1</i> in two sibs from phenotypically normal parents |
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| A mixed‐methods investigation of sensory response patterns in Barth syndrome: A clinical phenotype? |
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| Lung function, diagnosis, and treatment of sleep‐disordered breathing in children with achondroplasia |
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| The tricky matter of secondary genomic findings |
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| Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions |
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| Myriad case heads back to Court of Appeals |
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| Multiple supernumerary molars, anterior openbite, and large ear lobules in mucopolysaccharidosis type VI patient |
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| Rare inherited <i>A2BP1</i> deletion in a proband with autism and developmental hemiparesis |
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| Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome |
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| Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel <i>NF1</i> mutation |
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| Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures |
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| Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia? |
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| Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis |
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| Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion |
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| Studies of <i>TBX4</i> and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot |
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| De novo triplication of the <i>MAPT</i> gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies |
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| An unmasked mutation of <i>EIF2B2</i> due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease |
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| XX male sex reversal with genital abnormalities associated with a de novo <i>SOX3</i> gene duplication |
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| A benign form of congenital anterolateral bowing of the tibia associated with ipsilateral polydactyly of the hallux: Case report and literature review |
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| Scoliosis in Prader–Willi syndrome: Effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression |
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| Survey of health status and complications among propionic acidemia patients |
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| Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships |
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| Duplication of 18q21.32–q22.3 identified in a stillborn and two relatives with minimal dysmorphic features |
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| A novel <i>KIF11</i> mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family |
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| Body stalk anomaly in Denmark during 20 years (1970–1989) |
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| Maternal genetic effect in DNA analysis: Egg on your traits |
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| <i>RUNX1T1</i>, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability |
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| Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion |
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| Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families |
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| Complete trisomy 10p resulting from an extra stable telocentric chromosome |
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| Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America) |
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| Phenotypic progression of skeletal anomalies in CLOVES syndrome |
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| The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions |
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| Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD) |
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| Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 |
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| Three new patients with FATCO: Fibular agenesis with ectrodactyly |
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| Hearing loss in skeletal dysplasia patients |
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| <i>PTEN</i> hamartoma tumor syndrome and Gorham–Stout phenomenon |
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| Facial phenotype at different ages and cardiovascular malformations in children with Williams–Beuren syndrome: A study from India |
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| Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome |
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| Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterization |
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| Finlay–Marks syndrome: Report of two siblings and review of literature |
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| Book Review: A Guide to Cancer Genetics in Clinical Practice, edited by Sue Clark |
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| Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication |
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| Germline mosacism in Shprintzen–Goldberg syndrome |
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| Contribution of <i>LPP</i> copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association |
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| In memoriam: Eric Engel, M.D., an innovator, mentor, and humanist |
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| Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate |
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| Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation |
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| Growth charts for individuals with Smith–Lemli–Opitz syndrome |
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| 1.9 Mb microdeletion of 21q22.11 within Braddock–Carey contiguous gene deletion syndrome region: Dissecting the phenotype |
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| In This Issue |
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| Table of Contents, Volume 158A, Number 6, June 2012 |
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| Electronic family health history records draw attention |
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| At $1,000, is genomic sequencing clinically useful in newborns? |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 6, June 2012 |
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| Confirmation of the Zechi‐Ceide syndrome |
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| The idic(15) syndrome: Expanding the phenotype |
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| Mutations of SMAD4 account for both LAPS and Myhre syndromes |
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| Salivary gland pathology as a new finding in Treacher Collins syndrome |
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| Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in <i>ARX</i> |
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| Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader–Willi syndrome |
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| Discordant monozygotic twins for macrocephaly‐capillary malformation |
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| Aging in Prader–Willi syndrome: Twelve persons over the age of 50 years |
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| Wiedemann–Rautenstrauch syndrome: Report of a variant case |
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| Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism |
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| Brain abnormalities in patients with Beckwith–Wiedemann syndrome |
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| Risk of cancer in relatives of children born with isolated cleft lip and palate |
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| Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region |
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| A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a <i>PTPN11</i> mutation and a novel variant in <i>SOS1</i> |
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| MGAT2‐CDG (CDG‐IIa) and dysmorphism |
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| Apparent transmission distortion of a pericentric chromosome one inversion in a large multi‐generation pedigree |
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| Typical renal‐coloboma syndrome phenotype in a patient with a submicroscopic deletion of the <i>PAX2</i> gene |
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| The face signature of fibrodysplasia ossificans progressiva |
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| Characterization of six novel patients with <i>MECP2</i> duplications due to unbalanced rearrangements of the X chromosome |
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| Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I |
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| Germline mosaicism in Cornelia de Lange syndrome |
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| Hornstein–Birt–Hogg–Dubé syndrome: A renaming and reconsideration |
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| 14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly |
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| Ambiguous genitalia: What prenatal genetic testing is practical? |
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| Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the<i>CHST14</i>gene |
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✓ |
✓ |
Afghani; Japanese, Turkish, and Indian descent |
| Long‐term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics |
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| Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion |
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| Familial distal monosomy 3p26.3‐pter with trisomy 4q32.2‐qter, presenting with progressive ataxia, intellectual disability, and dysmorphic features |
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| Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2 |
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| Familial Xp22.33‐Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature |
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| Aberrant methylation of H19‐DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome |
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| De novo duplication and deletions at 7q in a three‐generation family |
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| Women's knowledge, attitudes, and beliefs about Down syndrome: A qualitative research study |
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✓ |
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| Candidate locus analysis for PHACE syndrome |
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| Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A |
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| A girl with two syndromes: Turner syndrome and Costello syndrome. A case history |
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| Hypertension in <i>FMR1</i> premutation males with and without fragile X‐associated tremor/ataxia syndrome (FXTAS) |
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| Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study |
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| FG syndrome: The FGS2 locus revisited |
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| Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature |
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| Complex genomic rearrangement in the <i>SOX9</i> 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula |
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| Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects |
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| Noonan syndrome due to a <i>SHOC2</i> mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant |
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| The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving <i>MECP2</i> is associated with the location of distal breakpoints |
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| Book review: Developmental Biology Ed 9 by SF, Gilbert MA, Sunderland Sinauer Associates. ISBN: 978‐0‐87893‐384‐6 |
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| Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome–Multiple Lentigines) |
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| A co‐occurrence of osteogenesis imperfecta type VI and cystinosis |
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| Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms |
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| Sirenomelia and caudal malformations in two families |
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| Deletion of filamin A in two female patients with periventricular nodular heterotopia |
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| Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 5, May 2012 |
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| In this issue |
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| Uncommon disorders in the spotlight |
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| Spending on genetic tests grows |
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|
| Table of Contents, Volume 158A, Number 5, May 2012 |
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| Prevalence and clinical features of Costello syndrome and cardio‐facio‐cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey |
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| Severe phenotype in MPS II patients associated with a large deletion including contiguous genes |
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| Mucolipidosis type II α/β with a homozygous missense mutation in the <i>GNPTAB</i> gene |
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| Somatic mosaicism and the phenotypic expression of <i>COL2A1</i> mutations |
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| Exclusion of mutations in <i>TGIF</i>, <i>ALX3</i>, and <i>ALX4</i> genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies |
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| Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004–2009 |
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| Book review of “Your Genealogy Affects Your Health (Know Your Family Tree)” by F. Clarke Fraser |
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| Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient |
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| Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter‐ and intra‐individual variation and correlation to the phenotype |
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| Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in <i>HRAS</i> predicting p.Gly12Val |
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| Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same <i>COL2A1</i> mutation |
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| A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch‐German) Mennonite and Hutterite patients in North America |
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✓ |
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Dutch‐German; Old Colony (Dutch‐German) Mennonite and Hutterite |
| Gene variants in the folate‐mediated one‐carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects |
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✓ |
✓ |
Hispanic |
| Enzyme replacement therapy improves joint motion and outcome of the 12‐min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation |
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| Clinical and molecular characterization of a second case of 7p22.1 microduplication |
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| Generation n + 1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009 |
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| Autism and epistemology III: Child development, behavioral stability, and reliability of measurement |
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| EEC syndrome‐like phenotype in a patient with an <i>IRF6</i> mutation |
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| Reduced telomere length in individuals with <i>FMR1</i> premutations and full mutations |
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| Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome |
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| Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy? |
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| A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome |
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| Microdeletion 19p13.2 in an almost 5‐year‐old boy |
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| Transmission of the rare <i>HRAS</i> mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype |
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| Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features |
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| <i>KRAS</i> gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G‐domain: Report of another family with metopic craniosynostosis |
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| Consanguinity and the risk of congenital heart disease |
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✓ |
✓ |
different ethnic populations; studied populations |
| Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation |
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| The Society of Craniofacial Genetics and Developmental Biology 34th Annual Meeting |
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| 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility |
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| A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male |
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| Adult presentation of arterial tortuosity syndrome in a 51‐year‐old woman with a novel homozygous c.1411+1G>A mutation in the <i>SLC2A10</i> gene |
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| <i>COL1A1</i> association and otosclerosis: A meta‐analysis |
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✓ |
✓ |
Belgian-Dutch and Swiss population |
| Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies |
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| Complex autism spectrum disorder in a patient with a 17q12 microduplication |
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| Defining small eye phenotypes |
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| Prenatal ablation of nicotinic receptor alpha7 cell lineages produces lumbosacral spina bifida the severity of which is modified by choline and nicotine exposure |
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| Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies |
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| Analysis of skeletal dysplasias in the Utah population |
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| In this issue |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 4, April 2012 |
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| Researchers use bloodspots to identify genetic hearing loss |
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| Autism testing service includes telephone counseling |
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|
| Table of Contents, Volume 158A, Number 4, April 2012 |
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| The face in congenital melanocytic nevus syndrome |
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✓ |
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✓ |
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| Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009 |
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| Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype |
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| Café‐au‐lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome |
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✓ |
✓ |
mixed race |
| A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome |
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| Biobank participation and returning research results: Perspectives from a deliberative engagement in South Side Chicago |
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✓ |
✓ |
African-American |
| Risk factors for nonsyndromic holoprosencephaly: A Manitoba case–control study |
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✓ |
✓ |
Aboriginal |
| Energy homeostasis in Prader–Willi Syndrome: How clinical research informs studies of animal models of genetic obesity |
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| Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: Prospective case study |
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| Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations |
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| A novel maternally‐derived insertional translocation resulting in partial trisomy 4q13.2–q22.1 with complex translocation t(8;20) in a family with intellectual disability |
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| Two novel patients with Bohring–Opitz syndrome caused by de novo <i>ASXL1</i> mutations |
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| Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion |
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| Early‐onset osteoarthritis in Ehlers–Danlos syndrome type VIII |
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| An intellectually disabled patient with the 5q14.3q15 microdeletion syndrome associated with an apparently de novo t(2;5)(q13;q14) |
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| TRPV4‐pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients |
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| Noonan‐like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations |
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| Calcifying leukoencephalopathies: New overlapping phenotypes |
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| Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial clefts |
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| Long‐term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in <i>CLCN7</i> |
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| De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction |
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| Audiological findings in Williams syndrome: A study of 69 patients |
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| Complete monosomy 21 confirmed by FISH and array‐CGH |
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| Nine genes that may contribute to partial trisomy (6)(p22→pter) and unique presentation of persistent hyperplastic primary vitreous with retinal detachment |
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| Clinical description of a patient carrying the smallest reported deletion involving 10p14 region |
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| A <i>MID1</i> gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain |
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| Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous <i>CHST14</i> mutation |
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| Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature |
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| Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array‐CGH in three related patients |
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| Neonatal detection of 5p13.2 duplication and delineation of the phenotype |
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| Acetazolamide for severe apnea in Pitt–Hopkins syndrome |
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| Male sex bias in placental dysfunction |
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| Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a <i>Glomulin</i> mutation |
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| De novo 6.9 Mb interstitial deletion on chromosome 4q31.1‐q32.1 in a girl with severe speech delay and dysmorphic features |
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| Recessive <i>RYR1</i> mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing |
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| Clinical epidemiology of skeletal dysplasias in South America |
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| Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome |
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| Hypothesis: Estrogen related thrombosis explains the pathogenesis and epidemiology of gastroschisis |
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✓ |
✓ |
blacks; racial differences |
| Screening of congenital heart disease patients using multiplex ligation‐dependent probe amplification: Early diagnosis of syndromic patients |
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| Balanced complex chromosome rearrangements: Reproductive aspects. A review |
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| A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: Confirmation of the Dinno syndrome |
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| Identification of 2 novel <i>ANTXR2</i> mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system |
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| A phenotype map for 14q32.3 terminal deletions |
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| Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature |
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| Hydrocephalus with Hirschsprung disease: Severe end of X‐linked hydrocephalus spectrum |
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| Prenatal testing for Down syndrome: The perspectives of parents of individuals with Down syndrome |
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| Association of X‐linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the <i>L1CAM</i> gene |
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| Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype |
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| Case about medical patents makes its way to U.S. Supreme Court |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 3, March 2012 |
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| Array CGH increasingly used in prenatal and postnatal testing |
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| In this issue |
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| Table of Contents, Volume 158A, Number 3, March 2012 |
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| Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services |
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| Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes <i>CRKL</i> and <i>MAPK1</i> |
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| The omega‐6 fatty acid linoleic acid is associated with risk of gastroschisis: A novel dietary risk factor |
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| Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline <i>PTPN11</i> mutation p.E139D |
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| Call for change in prenatal counseling for Down syndrome |
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| Use and non‐use of genetic counseling after diagnosis of a birth defect |
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| Unusual ribbon‐like periventricular heterotopia with congenital cataracts in a Japanese girl |
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✓ |
✓ |
Japanese |
| Third case of 8q23.3‐q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without <i>TRPS1</i> gene deletion |
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| A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin |
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| Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome) |
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| Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan |
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| Implications for genotype–phenotype predictions in Townes–Brocks syndrome: Case report of a novel <i>SALL1</i> deletion and review of the literature |
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| Adams–Oliver syndrome and portal hypertension: Fortuitous association or common mechanism? |
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| Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: A skin biopsy should remain the diagnostic gold standard |
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| Further characterization of Shwachman–Diamond syndrome: Psychological functioning and quality of life in adult and young patients |
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| Complex relationship between meiotic recombination frequency and autosomal synaptonemal complex length per cell in normal human males |
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| <i>WDR62</i> missense mutation in a consanguineous family with primary microcephaly |
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| Familial 16q24.3 microdeletion involving <i>ANKRD11</i> causes a KBG‐like syndrome |
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| Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies |
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| An inherited disorder with splenomegaly, cytopenias, and vision loss |
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✓ |
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| The neurologic findings in Taybi–Linder syndrome (MOPD I/III): Case report and review of the literature |
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| First reported case of interstitial 15 q15.3‐q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur |
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| Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: Report of two patients |
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| Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3 |
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| Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability |
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| Ophthalmic features of CHARGE syndrome with CHD7 mutations |
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| The importance of advanced parental age in the origin of neurofibromatosis type 1 |
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| Characterization of a novel <i>KRAS</i> mutation identified in Noonan syndrome |
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✓ |
✓ |
Japanese origin |
| Family history of cleft lip and palate in subjects diagnosed with leukemia |
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| Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication |
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| A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype |
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| Non‐immune hydrops fetalis: A short review of etiology and pathophysiology |
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| Chromosome 22q11.2 duplication is rare in a population‐based cohort of Danish children with cardiovascular malformations |
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| Informing on prenatal screening for Down syndrome prior to conception. An empirical and ethical perspective |
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| Superior mesenteric artery aneurysm in a 9‐year‐old boy with classical Ehlers–Danlos syndrome |
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| Consanguinity and occurrence of cleft lip/palate: A hospital‐based registry study in Riyadh |
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| R179H mutation in ACTA2 expanding the phenotype to include prune‐belly sequence and skin manifestations |
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| Genetic culprit of rare autoinflammatory disorder confirmed |
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| In this issue |
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| Personalized medicine comes to cystic fibrosis |
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| American Journal of Medical Genetics Part A: Volume 158A, Number 2, February 2012 |
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| Table of Contents, Volume 158A, Number 2, February 2012 |
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| Mosaic upd(7)mat in a patient with Silver–Russell syndrome |
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| Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature |
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| The behavioral phenotype of Mowat–Wilson syndrome |
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| Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1 |
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| Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, <i>COL11A2</i> |
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| Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma |
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✓ |
✓ |
Uses phrases 'an Asian country', 'Japanese patients', and 'ethnicity'. |
| Effectively training pediatric residents to deliver diagnoses of Down syndrome |
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| A de novo interstitial deletion of 2p23.3–24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy |
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| Novel <i>CLDN14</i> mutations in Pakistani families with autosomal recessive non‐syndromic hearing loss |
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| Segmental maternal uniparental disomy 7q associated with <i>DLK1/GTL2</i> (14q32) hypomethylation |
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| Mucopolysaccharidosis type II in females and response to enzyme replacement therapy |
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| Anthropometric charts for infants with trisomies 21, 18, or 13 born between 22 weeks gestation and term: The VON charts |
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| Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I |
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| Whorled hairless nevus of the scalp, linear hyperpigmentation, and telangiectatic nevi of the lower limbs: A novel variant of the “phacomatosis complex” |
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| Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body |
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| The Boy in the Moon. A Father's Search for His Disabled Son. By Ian Brown. Random House, Canada, 2009. 296 p. |
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