| Cytogenetically invisible microdeletions involving <i>PITX2 </i>in Rieger syndrome |
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| A novel <i>DFNA5 </i>mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late‐onset non‐syndromic hearing loss in a Chinese family |
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✓ |
✓ |
Chinese; Chinese origin |
| <i>TBX22 </i>mutations are a frequent cause of non‐syndromic cleft palate in the Thai population |
|
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|
✓ |
✓ |
Thai population; ethnic‐matched control chromosomes |
| Colorectal cancer survivors undergoing genetic testing for hereditary non‐polyposis colorectal cancer: motivational factors and psychosocial functioning |
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| Identities, frequencies and origins of <i>TMC1</i> mutations causing DFNB7/B11 deafness in Pakistan |
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|
✓ |
✓ |
✓ |
northern European origins; African‐American |
| Characterization of <i>de novo </i>microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization |
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| A novel duplication in the <i>FMR1 </i>gene: implications for molecular analysis in fragile X syndrome and repeat instability |
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| The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population |
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|
✓ |
|
Dutch population |
| Contiguous gene deletions involving <i>EFNB1</i>, <i>OPHN1</i>, <i>PJA1</i> and <i>EDA</i> in patients with craniofrontonasal syndrome |
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| Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity‐associated <i>MARK/Par1</i> gene family as potential PJS candidates |
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| Do carriers of POLG mutation W748S have disease manifestations? |
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| Susceptibility genes in breast cancer: more is less? |
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| Survival estimates for patients with Machado–Joseph disease (SCA3) |
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| Prenatal diagnosis of Miller‐Dieker syndrome by ultrasound and molecular cytogenetic analysis |
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| Amino acid changes in the amino terminus of the Na,K‐adenosine triphosphatase alpha‐2 subunit associated to familial and sporadic hemiplegic migraine |
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| β‐Globin gene cluster polymorphisms are strongly associated with severity of HbE/β<sup>0</sup>‐thalassemia |
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|
| Association of the estrogen receptor α gene polymorphisms with osteoporosis in the Mexican population |
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✓ |
✓ |
Mexican population; subpopulations |
| <i>GFAP </i>mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease |
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| <i>DMPK</i>‐associated myotonic dystrophy and CTG repeats in Alabama African Americans |
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✓ |
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✓ |
|
|
whites of European descent |
| Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia |
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| The role of common genetic risk variants in Parkinson disease |
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| Pallister–Killian syndrome: tetrasomy of 12pter→12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome |
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| Non‐neuronopathic Gaucher disease due to saposin C deficiency |
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| Germline mutation prevalence in the base excision repair gene, <i>MYH</i>, in patients with endometrial cancer |
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| Transcriptional explorations of <i>CAPN3</i> identify novel splicing mutations, a large‐sized genomic deletion and evidence for messenger RNA decay |
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| Genetics of Noonan syndrome – a new gene, and the search is still on |
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| Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe |
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| Germline<i> hMSH2 </i>promoter mutation in a Chinese HNPCC kindred: evidence for dual role of LOH |
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| The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP |
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| Sex‐linked deafness |
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| Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene |
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| Disruption of the <i>IL1RAPL1</i> gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism |
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| Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA<sup>Ser(UCN)</sup> in sensorineural hearing loss |
|
✓ |
|
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|
✓ |
✓ |
Spanish |
| A novel arginine‐to‐cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype |
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| Pediatric restrictive cardiomyopathy associated with a mutation in β‐myosin heavy chain |
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| Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype |
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| Genetic polymorphisms of matrix metalloproteinases in lung, breast and colorectal cancer |
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| Predictors of psychological distress among individuals with a strong family history of malignant melanoma |
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| Novel mutations of the ferroportin gene (<i>SLC40A1</i>): analysis of 56 consecutive patients with unexplained iron overload |
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| A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene |
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| <i>De novo</i> occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma |
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|
✓ |
|
Italian family |
| Genetic heterogeneity of autosomal dominant hypercholesterolemia |
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|
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| Analysis of the <i>HFE</i> gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia |
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| Polymorphisms spanning the <i>0N</i> exon and promoter of the estrogen receptor‐beta (ERβ) gene <i>ESR2</i> are associated with venous ulceration |
|
✓ |
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| High frequency of T130I mutation of <i>HNF4A</i> gene in Mexican patients with early‐onset type 2 diabetes |
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| Restoring reproductive confidence in families with X‐linked mental retardation by finding the causal mutation |
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| <i>Myocardin</i> gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population |
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|
✓ |
✓ |
Cretan ("native Cretan individuals", "Cretan population") |
| Skeletal dysplasias and the growth plate |
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| Perinatal lethal Gaucher’s disease without prenatal complications |
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| Cultural enhancement of a clinical service to meet the needs of indigenous people; genetic service development in response to issues for New Zealand Maori |
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|
✓ |
✓ |
Eurocentric model; Maori people |
| Array‐based genotype–phenotype correlation in a case of supernumerary ring chromosome 12 |
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|
|
| Two novel functional mutations in the Na<sup>+</sup>,K<sup>+</sup>‐ATPase α2‐subunit <i>ATP1A2</i> gene in patients with familial hemiplegic migraine and associated neurological phenotypes |
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| A life without pain? Hedonists take note |
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| When adaptive processes go awry: gain‐of‐function in<i> SCN9A</i> |
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| Dyskeratosis congenita: a genetic disorder of many faces |
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| Use of multiplex ligation‐dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome |
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| Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome |
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| Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan’s disease |
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| Synpolydactyly: clinical and molecular advances |
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| Two new patients bearing mutations in the <i>fukutin</i> gene confirm the relevance of this gene in Walker–Warburg syndrome |
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| Restless legs syndrome: an update on genetics and future perspectives |
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| Familial 22q11.2 duplication: a three‐generation family with a 3‐Mb duplication and a familial 1.5‐Mb duplication |
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|
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| Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis |
|
|
|
|
|
|
✓ |
✓ |
ethnic extraction; ethnically adjusted general population; Jewish extraction |
| Stickler and branchio‐oto‐renal syndromes in a patient with mutations in<i> EYA1 </i>and<i> COL2A1 </i>genes |
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|
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|
|
|
|
|
| Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ‘intermediate risk’ |
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|
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|
|
✓ |
✓ |
Mediterranean ancestry; Greeks; natives of Crete; Cretan(s); Western/Eastern populations of the Medi |
| Increased dental caries in people with neurofibromatosis 1 |
|
|
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|
|
| Pure subtelomeric microduplications as a cause of mental retardation |
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|
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| A disease causing deletion of 29 base pairs in intron 15 in the <i>MKS1 </i>gene is highly associated with the campomelic variant of the Meckel–Gruber syndrome |
|
|
|
|
|
✓ |
✓ |
✓ |
individuals of European origin; Finnish, German |
| <i>Parkin </i>polymorphisms: risk for Parkinson’s disease in Indian population |
|
|
|
|
|
|
✓ |
|
Indian population |
| Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development |
|
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|
| Cytogenetic and molecular characterization of the derivative Y chromosome: a case study of an azoospermic patient |
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| The genetics of mitral valve prolapse |
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| Insights into the genetics of severe congenital neutropenia |
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|
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| The homozygous deletion of the 3′ enhancer of the <i>SHOX </i>gene causes Langer mesomelic dysplasia |
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| Crouzon with acanthosis nigricans. Further delineation of the syndrome |
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|
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| The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility |
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|
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| Non‐random maternal X‐chromosome inactivation associated with PHACES |
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|
|
| Screening for <i>BRCA1</i> and <i>BRCA2</i> mutations in Eastern Finnish breast/ovarian cancer families |
|
|
|
|
|
|
✓ |
✓ |
Finnish; Eastern Finland; Finnish founder mutations; Finnish breast/ovarian cancer families; relativ |
| Germinal mosaicism in Simpson‐Golabi‐Behmel syndrome |
|
|
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|
|
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|
|
|
| Identification of proximal 1p36 deletions using array‐CGH: a possible new syndrome |
|
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|
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| Formalin‐fixed paraffin‐embedded clinical tissues show spurious copy number changes in array‐CGH profiles |
|
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|
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| Auditory pathology in cri‐du‐chat (5p‐) syndrome: phenotypic evidence for auditory neuropathy |
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|
|
| New insights into autism from a comprehensive genetic map |
|
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|
|
| SORL1 adds another piece to the complex puzzle of Alzheimer disease genetics |
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|
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| Unraveling intrinsic genetic factors in type 2 diabetes |
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|
|
| Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency |
|
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|
|
| Detection of copy number changes at the <i>NF1 </i>locus with improved high‐resolution array CGH |
|
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|
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|
|
| A distinct spectrum of<i> SLC26A4 </i>mutations in patients with enlarged vestibular aqueduct in China |
|
|
|
|
|
|
✓ |
✓ |
Chinese; different ethnic background and populations |
| Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson’s disease |
|
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|
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| Development and testing of a decision aid for breast cancer prevention for women with a BRCA1 or BRCA2 mutation |
|
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|
|
| Molecular analysis and long‐term clinical evaluation of three siblings with Alström syndrome |
|
|
|
|
|
|
✓ |
✓ |
consanguineous Turkish family |
| Movement and mood disorder in two brothers with Gaucher disease |
|
|
|
|
|
|
|
|
|
| Genetics of autosomal recessive non‐syndromic mental retardation: recent advances |
|
|
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|
|
| Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large <i>CFTR</i> rearrangements |
|
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|
|
| Gene dosage influences the age at onset of SCA2 in a family from southern Italy |
|
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|
|
| Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome |
|
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|
|
| Frequency of constitutional <i>MSH6 </i>mutations in a consecutive series of families with clinical suspicion of HNPCC |
|
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|
|
| Mosaic paternally derived inv dup(15) may partially rescue the Prader–Willi syndrome phenotype with uniparental disomy |
|
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|
|
|
|
| Prevalence of <i>CYP1B1 </i>mutations in Australian patients with primary congenital glaucoma |
|
✓ |
|
|
|
|
✓ |
✓ |
ethnic populations |
| Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert’s syndrome in Taiwanese adults |
|
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|
|
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|
|
| The importance of the fetal origins of adult disease for geneticists |
|
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|
|
| Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (<i>FGFR</i>)‐2 gene |
|
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|
|
| Sweet successes in diabetes genetics |
|
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|
|
| Frequency of hemochromatosis gene (<i>HFE</i>) mutations in Corsica (France) |
|
|
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|
|
|
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|
|
| Audioprofiling identifies <i>TECTA</i> and<i> GJB2</i>‐related deafness segregating in a single extended pedigree |
|
|
|
|
|
|
|
|
|
| Novel mutations in the pejvakin gene are associated with autosomal recessive non‐syndromic hearing loss in Iranian families |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles |
|
✓ |
|
|
|
✓ |
✓ |
✓ |
among Europeans and their descendants; Mediterranean component |
| <i>CYR61 </i>polymorphisms are associated with plasma HDL‐cholesterol levels in obese individuals |
|
|
|
|
|
|
|
|
|
| Familial CHARGE syndrome because of <i>CHD7</i> mutation: clinical intra‐ and interfamilial variability |
|
✓ |
|
|
|
|
|
|
|
| Fidelity of whole‐genome amplification of blood spot DNA for HLA typing and SNP analyses |
|
|
|
|
|
|
|
|
|
| Distribution and frequencies of <i>CDH23 </i>mutations in Japanese patients with non‐syndromic hearing loss |
|
✓ |
|
|
|
|
✓ |
✓ |
Japanese; Eastern Asian populations |
| The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease |
|
|
|
|
|
|
|
|
|
| Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the <i>FMR1</i> gene |
|
|
|
|
|
|
|
|
|
| Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of <i>NIPBL</i> mutation |
|
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|
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|
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|
|
| Response to Cohen |
|
|
|
|
|
|
|
|
|
| Mutations in the <i>CHX10</i> gene in non‐syndromic microphthalmia/anophthalmia patients from Qatar |
|
|
|
|
|
|
|
|
|
| Validation study of the <scp>lambda</scp> model for predicting the <i>BRCA1</i> or <i>BRCA2</i> mutation carrier status of North American Ashkenazi Jewish women |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish (AJ) |
| High‐resolution oligonucleotide array‐CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene <i>BRCA1</i> |
|
|
|
|
|
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|
|
| A comparison of counselee and counselor satisfaction in reproductive genetic counseling |
|
|
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|
|
| Frequency of Von Hippel‐Lindau germline mutations in classic and non‐classic Von Hippel‐Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation‐dependent probe ampli |
|
|
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|
|
|
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|
|
| Identification of a novel pseudodeficiency allele in the <i>GLB1</i> gene in a carrier of GM1 gangliosidosis |
|
|
|
|
|
|
✓ |
✓ |
Basque; non-Basque; Basque Country in the north of Spain |
| Screening of mutations in the <i>PHF8</i> gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate |
|
|
|
|
|
|
✓ |
✓ |
Finnish |
| Mutation analysis of the genes involved in the Ras‐mitogen‐activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome |
|
|
|
|
|
|
|
|
|
| Executive functioning in children and adolescents with phenylketonuria |
|
|
|
|
|
|
|
|
|
| Congenital myasthenic syndrome caused by two non‐N88K rapsyn mutations |
|
|
|
|
|
|
|
|
|
| Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype–phenotype correlation |
|
|
|
|
|
|
|
|
|
| Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4‐year clinical follow‐up |
|
|
|
|
|
|
|
|
|
| 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome |
|
|
|
|
|
|
|
|
|
| A novel mutation in the <i>PHF8 </i>gene is associated with X‐linked mental retardation with cleft lip/cleft palate |
|
|
|
|
|
|
|
|
|
| Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF |
|
✓ |
|
|
|
|
|
|
|
| Development of cortical GABAergic circuits and its implications for neurodevelopmental disorders |
|
|
|
|
|
|
|
|
|
| Cognition genes on autosomes: the paradox |
|
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|
|
| Genetic testing for heart disease susceptibility: potential impact on motivation to quit smoking |
|
|
|
|
|
|
|
|
|
| Imiglucerase (Cerezyme<sup>®</sup>) improves quality of life in patients with skeletal manifestations of Gaucher disease |
|
|
|
|
|
|
|
|
|
| Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? |
|
|
|
|
|
|
|
|
|
| Assessment of the prevalence of the 985A>G MCAD mutation in the French‐Canadian population using allele‐specific PCR |
|
|
|
|
|
✓ |
✓ |
✓ |
northwestern European populations; French-Canadians |
| The position of the mutation within the <i>LMNA </i>gene determines the type and extent of tissue involvement in laminopathies |
|
|
|
|
|
|
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|
|
| Response to Landires et al. |
|
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|
|
| Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11–q21.32 |
|
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|
|
| Transmission of familial Mediterranean fever mutations following bone marrow transplantation |
|
|
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|
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|
|
| Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia |
|
|
|
|
|
|
|
|
|
| Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 cases |
|
|
|
|
|
|
|
|
|
| Constitutive deficiency in DNA mismatch repair |
|
|
|
|
|
|
|
|
|
| Abnormal brain structure in adults with Van der Woude syndrome |
|
|
|
|
|
|
|
|
|
| Glucose metabolism and insulin secretion in a patient with <i>ABCC8 </i>mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3 |
|
|
|
|
|
|
|
|
|
| A genome‐wide linkage scan for iron phenotype quantitative trait loci: the HEIRS Family Study |
|
✓ |
|
|
|
|
✓ |
✓ |
race/ethnicity |
| Spectrum of mutations and variants/haplotypes of CFTR and genotype–phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis |
|
|
|
|
|
|
✓ |
✓ |
Chinese; ethnically matched; other ethnic groups; population-specific; populations; Taiwan |
| Schizophrenia in a patient with subtelomeric duplication of chromosome 22q |
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| The presence of germ line mosaicism in cleidocranial dysplasia |
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| Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations |
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|
| <i>LRRK2</i> G6055A mutation in Italian patients with familial or sporadic Parkinson’s disease |
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|
| The p.R1109X mutation in <i>SH3TC2</i> gene is predominant in Spanish Gypsies with Charcot–Marie–Tooth disease type 4 |
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|
|
|
|
✓ |
✓ |
✓ |
European Gypsy population; Gypsy; Spanish Gypsies |
| A novel homozygous frameshift deletion c.471del of <i>HFE</i> associated with hemochromatosis |
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|
✓ |
|
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|
| Genetic counselling and consent for tumour testing in HNPCC |
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|
| Psychopathology and personality aspects of adults with Möbius sequence |
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| Current status of thalassemia in minority populations in Guangxi, China |
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| Toward understanding the genetic basis of neural tube defects |
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|
|
| Identification of novel <i>BRCA</i> large genomic rearrangements in Singapore Asian breast and ovarian patients with cancer |
|
✓ |
|
|
|
✓ |
✓ |
✓ |
Western European descent; Asian populations |
| Tuberous sclerosis complex and myocardial fat‐containing lesions: a report of four cases |
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|
|
| Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma? |
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|
|
| Association of <i>TCF7L2</i> polymorphisms with type 2 diabetes in Mexico City |
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|
|
|
|
✓ |
✓ |
✓ |
Spanish from Valencia; European and West African populations; Native Americans; Nigerians (Bini from the Edo region); East Asian and Native American populations; |
| The Ala53Thr mutation in the α‐synuclein gene in a Korean family with Parkinson disease |
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| Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2 |
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| Late‐onset GSDII with novel <i>GAA</i> gene mutation |
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| The common genetic variant upstream of <i>INSIG2</i> gene is not associated with obesity in Indian population |
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| A new familial mutation (R133G) in the <i>SRY</i> gene |
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| Germline mutations in <i>APC</i> and <i>MUTYH</i> are responsible for the majority of families with attenuated familial adenomatous polyposis |
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|
|
| Single‐nucleotide polymorphisms in the <i>COL1A1</i> regulatory regions are associated with otosclerosis |
|
✓ |
|
✓ |
|
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|
|
| Mitochondrial deafness |
|
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|
|
| Contribution of the <i>CFTR</i> gene, the pancreatic secretory trypsin inhibitor gene (<i>SPINK1</i>) and the cationic trypsinogen gene (<i>PRSS1</i>) to the etiology of recurrent pancreatitis |
|
|
|
|
|
|
✓ |
✓ |
Greek patients; healthy Greek subjects |
| Clinical findings and molecular characterization of six subtelomeric imbalances |
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|
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| The Huntington’s Disease quality of life battery for carers: reliability and validity |
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|
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| An overview of isolated and syndromic oesophageal atresia |
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| <i>RMRP</i> mutations in hematological disorders |
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| Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene <i>SLC7A9</i> |
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| Newborn screening for mucopolysaccharidoses: opinions of patients and their families |
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| <i>MEFV</i> alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever |
|
|
|
|
|
|
✓ |
✓ |
Greeks; Mediterranean Basin populations; eastern rather than western populations of the Mediterranea |
| Loss‐of‐function mutations in the Na<sub>v</sub>1.7 gene underlie congenital indifference to pain in multiple human populations |
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| Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek‐Cypriots, with emphasis on dehydration as presenting symptom |
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| Expanding the phenotypic spectrum of Caffey disease |
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| Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation |
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| Corrigendum |
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|
|
| Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot‐Marie‐Tooth neuropathy type 2 |
|
|
|
|
|
|
✓ |
✓ |
Korean |
| The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease |
|
|
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|
|
| <i>SIL1 </i>and <i>SARA2 </i>mutations in Marinesco‐Sjögren and chylomicron retention diseases |
|
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|
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| Identification of 14 novel <i>GLB1 </i>mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America |
|
|
|
|
|
|
✓ |
✓ |
Gypsy |
| Associations between USF1 gene variants and cardiovascular risk factors in the Quebec Family Study |
|
|
|
|
|
|
✓ |
✓ |
French Canadians |
| Corrigendum |
|
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|
|
| Corrigendum |
|
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| <i>HRAS </i>and the Costello syndrome |
|
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| A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X‐linked gene<i> WAS</i> |
|
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|
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| Gene discovery in craniofacial development and disease – cashing in your chips |
|
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|
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| Novel<i> LMNA </i>mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660) |
|
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|
|
| A comparison of community, clinician, and patient preferences for naming a cancer‐related mutation |
|
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|
|
| Three children with Milroy disease and<i> de novo </i>mutations in<i> VEGFR3</i> |
|
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|
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|
|
| Young people’s experiences of growing up in a family affected by Huntington’s disease |
|
|
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|
|
|
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|
|
| A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype–phenotype correlation for amino acid‐572 of TMC1 |
|
✓ |
|
|
|
|
|
|
|
| A new locus for autosomal recessive non‐syndromic mental retardation maps to 1p21.1–p13.3 |
|
|
|
|
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|
|
| Interstitial deletions of chromosome 6q: genotype–phenotype correlation utilizing array CGH |
|
|
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|
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|
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|
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| <i>MLH1 </i>germline epimutations in selected patients with early‐onset non‐polyposis colorectal cancer |
|
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|
|
| Disruption of Friend of GATA 2 gene (<i>FOG‐2</i>) by a <i>de novo </i>t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis |
|
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|
|
|
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|
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| A family with lymphoedema‐distichiasis where identical twins have a discordant phenotype |
|
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|
|
| Interactions and associations of paraoxonase gene cluster polymorphisms with myocardial infarction in a Pakistani population |
|
|
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|
|
|
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|
|
| Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis |
|
|
|
|
|
|
|
|
|
| 1.5 Mb<i> de novo </i>22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features |
|
|
|
|
|
|
|
|
|
| A survey of preventive measures among<i> BRCA1 </i>mutation carriers from Poland |
|
|
|
|
|
|
✓ |
✓ |
Polish women |
| Germline novel<i> MSH2 </i>deletions and a founder<i> MSH2 </i>deletion associated with anticipation effects in HNPCC |
|
|
|
|
|
|
✓ |
✓ |
Italian; northeastern Italy |
| Effectiveness of the <scp>crcapro</scp> program in identifying patients suspected for HNPCC |
|
|
|
|
|
|
|
|
|
| Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early‐onset breast cancer in Cyprus |
|
|
|
|
|
|
|
|
|
| Novel germline and somatic mutations of the<i> MSH2 </i>gene in hereditary non‐polyposis colorectal cancer |
|
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|