| Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing |
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| Molecular refinement of Karyotype: Beyond the cytogenetic band |
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| Population-based studies reveal differences in the allelic frequencies of two functionally significant human interleukin-4 receptor polymorphisms in several ethnic groups |
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| A new age in the genetics of deafness |
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| American Board of Medical Genetics Diplomates |
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| In search of the Holy Grail: NF1 mutation analysis and genotype phenotype correlation |
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| Transmission of Angelman syndrome by an affected mother |
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| Genetic services for common complex disorders: Surveys of health maintenance organizations and academic genetic centers |
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| Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines |
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| Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman |
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| letter to the editor |
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| Population-based surveillance of services provided to counseling and prenatal clients in a multi-state region by state health departments: A proposal |
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| Positions Available: Jane Engelberg Memorial Fellowship |
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| samuel pruzansky memorial lecture |
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| invited speakers and moderators |
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| Biochemical discrimination of heterozygotes for cystathionine β-synthase (CβS) deficiency |
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| A retrospective FISH study of HER-2/neu oncogene amplification in relapsed and non-relapsed node-negative breast cancer |
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| Epilepsy, genetics, neurotransmitter amino acids and anticonvulsants |
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| Immune deficiency (IgG2 deficiency), minimal centromeric association and facial dysmorphism |
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| Familial posterior urethral valves as a cause for prune-belly |
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| Pregnancy Termination Policies in Community Hospitals |
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| VATER association with female hypospadia |
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| A multifaceted genetics educational program for nursing faculty |
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| Heart-hand syndrome II (Tabatznik syndrome): A new case with mild phenotype |
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| Severe amniotic band syndrome with limb body wall complex. Ultrasonographic-clinicopathologic correlations |
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| Blunt trauma to the gravid abdomen as a cause of cerebral palsy and epilepsy |
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| Genetic studies in the focal dermal hypoplasia of Goltz syndrome |
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| New syndromic association of male pseudohermaphroditism with female external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s) |
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| A New Variation on an Old Theme: Subtleties of the Smith-Lemli-Opitz Syndrome (RSH/SLOS) |
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| Assessment of Service Load in Clinical Genetics Practice. Report of a Survey Conducted in the GENES Region |
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| Trisomy 8 in papillary serous carcinoma of the ovary studied by FISH |
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| A possible centromeric 21/22 translocation as an alternative cause of nondisjunction in trisomy 21 |
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| Congenital cardiac myopathy in a baby with an apparently balanced translocation t(7;8)(p21.2;g24.1) |
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| Discordant detection of monosomy 7 by GTG banding and FISH in a patient with Schwachman-Diamond syndrome |
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| A rare interstitial deletion (2)(pi l.2pl3) in a child with pericentric inversion (2)(pl l.2g13) of paternal origin |
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| Prevalence of common mutations of the MTHFR gene in a Puerto Rican population |
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| Characterization of the Hermansky-Pudlak Syndrome in the Puerto Rican population |
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| The psychological impact of a negative BRCA1 test: A wolf in sheep’s clothing? |
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| Molecular analysis of an extended Palestinian family from Israel with monilethrix |
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| Letter to the editor |
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| Cover Art Story: The Family Tree |
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| Medical Genetics Calendar |
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| Long-term outcome in treated combined methylmalonic acidemia and homocystinemia |
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| Minimum guidelines for the delivery of prenatal genetics services |
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| Positions Available: Clinical Geneticist/Dysmorphologist |
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| general information |
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| poster listings |
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| Prenatal diagnosis and carrier detection of albinism |
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| Assessment of quality of genetic counseling services by study of adverse events |
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| Chromosome abnormalities due to maternal translocations not detected with routine amniocentesis |
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| Karyotyping miscarriage tissue in the managed care environment |
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| Experience with Mucolipidosis Type IV in Newfoundland |
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| Alpha thalassemia major: counseling for the possibility of long-term survival |
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| Limb deformations in oligohydramnios sequence: effects of gestational age and duration of oligohydramnios |
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| Fryns-Soekerman syndrome: Case report and review |
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| Natural history of Trisomy 13 in unselected liveborn patients: Comparison with the S.O.F.T. data |
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| Infantile Huntington's disease in Mexico's National Institute of Neurology and Neurosurgery |
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| Typical “soup kid” facies of Albright Hereditary Osteodystrophy in early infancy and natural history of the phenotype through old age |
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| Prenatal Diagnosis of Asymmetric Fetal Overgrowth: A Diagnostic Dilemma |
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| Molecular Cytogenetic Characterization of Chromosome Markers |
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| HER-2/neu gene amplification in stages I-IV breast cancer detected by fluorescent in situ hybridization |
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| In Memoriam |
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| Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities |
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| American College of Medical Genetics position statement on gene patents and accessibility of gene testing |
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| Floorplans |
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| Human Genome Epidemiology: Translating advances in human genetics into population-based data for medicine and public health |
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| Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions |
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| Duty to re-contact |
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| ACMG board of directors |
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| board and committee meetings |
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| Five years' experience of cholesterol treatment for the Smith-Lemli-Opitz Syndrome (SLOS): What have we learned, where are we going? |
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| Identification of candidate genes involved in genitourinary malformations |
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| Exclusion of linkage to chromosome 3q in some familial cases of the Cornelia deLange Syndrome |
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| Characterization of a novel candidate gene in Xp22.3 with homology to Drosophila ms13 |
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| Heterogeneity of ApolipoproteinE polymorphisE and its Isoforms in Five caste groups of Punjab, India |
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✓ |
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caste groups |
| Unique Ichthyosis/MR Syndrome with Seizures, Severe Developmental Delay, Failure to Thrive, Mild Dysmorphology and Eye Findings |
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| Fragile X mutation screening among unselected pregnant women seen for genetic counseling: Findings of a pilot study |
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| Oro-facio-digital syndrome or Joubert syndrome? |
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| Kabuki make up syndrome in a Caribbean black child from Trinidad |
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| Genetics education of health professionals |
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| Clinical, cytogenetic and epidemiological approaches to the genetic heterogeneity of holoprosencephaly. Buenos Aires, 1988–1997 |
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| A unique X-linked syndrome characterized by congenital deafness, mild dysmorphic features, mid-phalangeal hypoplasia, hernias, and late-onset pancytopenia |
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| Carpal tunnel syndrome: familial autosomal inheritance |
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| On hiccuping and yawning: why we do it |
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| Brain and cranial disruption sequence from amniotic bands: a result of traction from fetal and embryonic swallowing of attached bands |
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| Chromosome painting for diagnosing a 10;11 translocation in a patient with infantile acute lymphoblastic leukemia |
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| Prenatal phenotype of 48, XXYY with elevated MSAFP |
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| Trisomy 8 in cervical cancer |
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| Influence of hcterochromatin on fetal loss: Clinical and counseling aspects |
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| Prenatal diagnosis of a non-fluorescent Y chromosome as characterized by FISH-technique |
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| Vanishing twin due to an apparent gnomic imbalance |
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| A new gene for dyslexia (DYX3) is located on chromosome 2. H.A |
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| Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a spopulation-based case-control study |
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| CPT Coding Revisions |
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| The Virtues of the Virtual World |
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| Introduction of Barton Childs |
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| Reviewer Acknowledgment |
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| Subject Index |
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| Cholesterol supplementation enhances growth of phallus in Smith-Lemli-Opitz syndrome |
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| An epidemiologic assessment of the relationship between the G985A medium chain acyl-coA dehydrogenase deficiency (MCADD) allelic variant and sudden infant death syndrome (SIDS) |
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| Novel Protein Truncation Test to detect COL2AI Nonsense Mutations in Stickler syndrome |
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| HER-2/neu oncogene amplification in prostate cancer |
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| Study of Some Morphological Physiological and Serological Parameters in Twins |
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| Mosaicism for duplication of 17q21 · qter with lymphedema and normal phenotype |
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| A Dermatofibrosarcoma Protuberans (DFSP) with complex clonal chromosomal findings and absence of ring chromosomes |
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| A small paracentric inversion of chromosome 18, inv(18) (q22.1q23), in a woman with multiple congenital anomalies and mental retardation |
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| Molecular analysis in true hermaphroditism |
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| The Fragile X syndrome in patients with mental retardation of unknown cause in Mexico |
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| Prenatal diagnosis of FGFR3 mutations in thanatophoric dysplasia types I and II |
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| Epidermal growth factor's role on human hepatocellular carcinoma transplanted into nude mice |
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| Diagnosis of hemochromatosis in family members of probands: A comparison of phenotyping and HFE genotyping |
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| Molecular cytogenetics: Show me the colors |
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| Prenatal Diagnosis of dup(3q) syndrome |
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| Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim |
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|
✓ |
|
Ashkenazim |
| Detection of Mosaicism in amniotic fluid cultures: A CYT02000 collaborative study |
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| Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation |
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| CF Carrier testing in a high risk population: Anxiety, risk perceptions, and reproductive plans of carrier by “non-carrier” couples |
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| Medium chain acyl-CoA dehydrogenase deficiency: Human genome epidemiology review |
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| 22q 13 Deletion Syndrome: A Genetic Basis For Neurobehavioral Disorders? |
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| A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs |
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| Issues in implementing prenatal screening for cystic fibrosis: Results of a working conference |
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| Southwestern Athabaskan (Navajo and Apache) genetic diseases |
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| Genealogy construction in a historically isolated population: Application to genetic studies of rheumatoid arthritis in the Pima Indian |
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| Cost and effectiveness of the California triple marker prenatal screening program |
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| The Online London Dysmorphology Database |
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| program information |
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| session listings |
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| Recent progress in identification of the X-linked Spinal Muscular Atrophy (XLSMA) gene confirms a major disease locus between Xpl 1.3-Xpl 1.2 |
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| Preliminary cytogenetic characterization of an AZT-resistant subclone, clone 5, of the human colon tumor cell line, HCT-15 |
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| Prenatal diagnosis of a skeletal deformation resulting from leiomyomata uteri |
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| Long deletions of the Williams syndrome region on chromosome 7 result in more severe mental retardation |
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| An unusual case of Smith-Lemli-Opitz syndrome and first trimester ultrasonographic exclusion in a subsequent pregnancy |
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| Serum Leptin Concentration and Lipid Profiles in Puerto Rican Bardet-Biedl Syndrome |
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| Atypical Down Syndrome phenotype with translocation Trisomy 21 |
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| Distal 5q Trisomy resulting from an X;5 translocation detected by chromosome painting |
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| Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis |
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| New point mutation in the RET oncogene among an African American kindred with MEN II-A in Puerto Rico |
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✓ |
|
African American |
| ACMG’s continuing medical education program: A new initiative |
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| Emerging approaches toward the treatment of neurofibromatoses |
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| What’s in a name? |
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| Positions Available |
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| Utility of multicolor fluorescent in situ hybridization in clinical cytogenetics |
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| Author Index |
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| mission statement, CMEs and CEUs |
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| march of dimes/colonel harland sanders award |
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| program committee |
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| Autism associated with elevated glutamine and glycine levels and clinical response to dextromethorphan |
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| Diagnosis of Gaucher disease by a flow cytometric assay |
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| A unique point mutation in the PMP22 gene is associated with Deafness, Charcot-Marie-Tooth and Anticipation |
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| Gestational age and risk for congenital defects: a population-based study |
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| Variable expressivity of Familial Medullary Thyroid Carcinoma (FMTC) due to a RET V804M (GTGG→ATG) mutation in two families: Reluctance of gene carriers to accept prophylactic thyroidectomy |
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| A dual FISH assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. |
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| A patient with Gorlin-Chaudhry-Moss syndrome and del(9)(q22.1q22.3) |
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| Transmission of a Fragile X full mutation from a premutation male to his two daughters |
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| Genetic analysis of patients with pancreatitis and a history of alcohol abuse |
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| Implications of atypical biochemical data in a case of presumed anencephaly |
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| Mosaicism in Lowe syndrome |
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| Cole-Carpenter Syndrome - A case report |
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| A minimally invasive assay detects BRCA 1 germline mutations |
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| Mixoploidy with a Proteus syndrome phenotype |
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| Caudal regression and holoprosencephaly in a fetus of a diabetic mother |
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| Hirschsprung's disease in a patient with translocation resulting in a partial trisomy of the long arm of chromosome |
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| Cerebrovascular accident leading to cortical blindness in a patient with bird-headed dwarfism |
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| Breast C.A.R.E. Breaks: An Innovative Cancer Genetics Education Model For Health Care Professionals |
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| Carrier screening in Gaucher disease: reproductive decision-making in couples with mixed heritage |
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| Teaching Clinical Genetics to Pediatric Residents in an Outpatient Setting: A Proposed Model |
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| RETROSPECIVE ANALYSIS OF PATIENTS WITH OVERLAPPING FEATURES OF TOWNES-BROCKS SYNDROME AND GOLDENHAR SYNDROME |
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| Fetal Valproate Syndrome (FVS) through the USF Teratogen Information Service (TIS) |
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| 45,X/46,XY Mosaicism: Clinical management and Counseling Issues |
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| Ritscher-Schinzel cardio-cranio-cerebellar (3C) syndrome: Report of three new cases |
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| Parental mosaicism for a point mutation in a type III collagen (COI3AI) allele produces Ehlers-Danlos type IV (EDS4) in heterozygous offspring |
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| Duplication 17p11.2 in two patients: clinical features and molecular cytogenetic findings |
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| The value of using gestational age by ultrasonography in Down syndrome and neural tube defects screening |
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| Prenatal diagnosis of Smith-Lemli-Opitz syndrome via an abnormal maternal serum screen |
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| De novo unbalanced translocation of chromosomes 3 and 10 and associated phenotype in a twin gestation |
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| Hypotonia and Prader Willi syndrome in the neonatal period |
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| Williams syndrome: analysis by R-bands, G-bands and fluorescent in situ hybridyzation techniques |
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| Human 27-kDa heat shock protein (hsp27) gene family: chromosomal band assignments and possible involvement in Williams syndrome deletion |
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| A FISH study of trisomies 7 and 8 in prostate cancer |
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| Identification of 46,XX/46,XY chimerism in an infant with ambiguous genitalia |
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| An unusual case of pseudodicentric Xq and one possible mechanism |
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| Mosaicism for a small supernumerary chromosome 22 associated with dysmorphic features and early onset dementia |
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| Two patients with mosaic trisomy ring 20. Doing the right test for the wrong reasons |
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| Incomplete X-linked congenital stationary night blindness: Characterization of mutations in the CACNAIF gene and an assessment of clinical variability |
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| Mutation analysis of the fragile histidine triad gene transcripts of primary tumors and unaffected tissue using restriction nuclease fingerprinting and sequencing |
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| Molecular analysis of human Jaggedl gene in an Indian family with Alagille syndrome |
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| Hemoglobin S haplotypes among sickle cell patients in the Puerto Rican population |
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| The reason of non-specific background of methodologies for random mutation identification: X-structures formation in purified PCR products solutions |
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| Towards the implementation of population -based genetic hemochromatosis screening in Germany |
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| PCR-based molecular diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite treatment. Potential for quantitative estimation |
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| Author Index |
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| Offering CF carrier screening: Who set the goal, and what is the goal? |
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| Additional evidence of linkage between Crohn’s disease and a putative locus on chromosome 12 |
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| Antenatal treatment for classic 21-hydroxylase forms of congenital adrenal hyperplasia and the issues |
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| Letter to Human Genetics Journals |
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| Malformations reported in chorionic villus sampling exposed children: A review and analytic synthesis of the literature |
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| Cytogenetic analysis using telemedicine consultation: An improved means of providing expert cross-coverage |
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| Positions Available: Jane Engelberg Memorial Fellowship |
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