| Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum |
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| The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 |
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| "SCA16" is really SCA15 |
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| Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness |
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| Isolated cytochrome c oxidase deficiency as a cause of MELAS |
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| A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation |
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| Estimating risks of common complex diseases: familial and population risks |
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| Human Gene Mutation Database: towards a comprehensive central mutation database |
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| SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family |
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✓ |
|
Chinese |
| Correction |
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| Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations |
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| Diversity of the basic defect of homozygous CFTR mutation genotypes in humans |
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| BRCA2: a cause of Li Fraumeni-like syndrome |
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| Is CHEK2 a cause of the Li Fraumeni syndrome? |
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| The genetic aetiology of Silver-Russell syndrome |
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| Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population |
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| Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association |
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| Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population |
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| A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 |
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| A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes |
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| Molecular characterisation of a common SDHB deletion in paraganglioma patients |
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| 7 Nicotinic acetylcholine receptor gene and reduced risk of Alzheimer's disease |
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| Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation |
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| GATA4 sequence variants in patients with congenital heart disease |
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| Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification |
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| Severe neonatal manifestations of Costello syndrome |
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| Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations |
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| Genomic imbalances associated with mullerian aplasia |
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| Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation |
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| A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts |
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| A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness |
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| Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy |
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| Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease |
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| Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis |
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| Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations |
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✓ |
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European populations |
| Hirschsprung disease, associated syndromes and genetics: a review |
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| Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma |
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| A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy |
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| Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation |
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| Correction |
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| The T/G 13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population |
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| Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel |
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| Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome |
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| Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells |
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| ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal |
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| General mutation databases: analysis and review |
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| Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) |
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| Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16 |
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| Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature |
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| Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation |
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| High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome |
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| Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) |
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| Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation |
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| Genotype phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations |
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| Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people |
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| Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients |
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| New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand |
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| Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls |
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| Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes |
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| Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome |
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|
| Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts |
✓ |
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| Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia |
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| Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures |
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| Correction |
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| Response to correspondence on "Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening" |
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| A genome-wide scan for genes involved in primary vesicoureteric reflux |
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|
| Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease |
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| Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease |
|
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|
|
| A novel hearing loss-related mutation occurring in the GJB2 basal promoter |
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| Germline E-cadherin mutations in familial lobular breast cancer |
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| Factors associated with HD CAG repeat instability in Huntington disease |
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| Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion |
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|
| Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing |
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| Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 |
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|
|
| Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays |
|
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|
|
| CORRECTION |
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| Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations |
|
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|
|
| Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract |
|
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|
|
| De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features |
|
|
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|
|
| The C20orf133 gene is disrupted in a patient with Kabuki syndrome |
|
|
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|
|
| SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome |
|
|
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|
|
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome |
|
|
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|
|
| Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangl |
|
|
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|
|
| Mutation detection in the ABCC6 gene and genotype phenotype analysis in a large international case series affected by pseudoxanthoma elasticum |
|
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|
|
| Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis |
|
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|
|
| Genetic screening for pheochromocytoma: should SDHC gene analysis be included? |
|
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|
| Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension |
|
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|
|
| The IRF5 polymorphism in type 1 diabetes |
|
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|
|
| Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation |
|
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|
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|
|
| Phenocopies in families seen by cancer geneticists |
|
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|
|
| Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 |
|
|
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|
|
| CORRECTION |
|
|
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|
|
| Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls |
|
|
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|
|
| Should healthcare providers have a duty to warn family members of individuals with an HNPCC-causing mutation? A survey of patients from the Ontario Familial Colon Cancer Registry |
|
|
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|
|
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|
|
| Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings |
|
|
|
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|
|
✓ |
|
German |
| Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children |
|
|
|
|
|
|
|
|
|
| Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome |
|
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|
|
| The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management |
|
|
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|
|
| Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers |
|
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|
|
| Cargos and genes: insights into vesicular transport from inherited human disease |
|
|
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|
|
| Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A |
|
|
|
|
|
|
|
|
|
| The novel IFNGR1 mutation 774del4 produces a truncated form of interferon- receptor 1 and has a dominant-negative effect on interferon- signal transduction |
|
|
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|
|
|
|
|
| Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment |
|
|
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|
|
| A functional CD86 polymorphism associated with asthma and related allergic disorders |
|
|
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|
|
| Coordinated transcriptional regulation patterns associated with infertility phenotypes in men |
|
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|
|
| Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax |
|
|
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|
|
|
|
|
| Insulin-degrading enzyme is genetically associated with Alzheimer's disease in the Finnish population |
|
|
|
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|
|
✓ |
|
Finnish population |
| Pregnancy does not influence colonic polyp multiplicity but may modulate upper gastrointestinal disease in patients with FAP |
|
|
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|
|
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|
|
| Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome |
|
|
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|
|
| Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics |
|
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|
|
| Unexplained autism is frequently associated with low-level mosaic aneuploidy |
|
|
|
|
|
|
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|
|
| Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein |
|
|
|
|
|
|
|
|
|
| Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions |
|
|
|
|
|
|
|
|
|
| FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage |
|
|
|
|
|
|
|
|
|
| Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X |
|
|
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|
|
| No screening yet after a negative test for the family mutation |
|
|
|
|
|
|
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|
|
| L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model |
|
|
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|
|
|
|
|
|
| Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation |
|
|
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|
|
|
|
|
|
| Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies |
|
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|
|
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|
|
| Attenuated aerobic exercise capacity in CD36 deficiency |
|
|
|
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|
|
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|
|
| Correction |
|
|
|
|
|
|
|
|
|
| Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility |
|
|
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|
|
| Correction |
|
|
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|
|
| Autism, language delay and mental retardation in a patient with 7q11 duplication |
|
|
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|
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|
|
| The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type |
|
|
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|
|
| Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease |
|
|
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|
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|
|
| Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3 |
|
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|
|
| A survey of locus-specific database curation |
|
|
|
|
|
|
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|
|
| Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely |
|
|
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|
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|
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|
|
| Phenocopies in breast cancer 1 (BRCA1) families: implications for genetic counselling |
|
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|
|
| Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening |
|
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|
|
| Association of arginase 1 gene polymorphisms with the risk of myocardial infarction and common carotid intima media thickness |
|
|
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|
|
| The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene |
|
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|
|
| MECP2 mutations in males |
|
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|
|
| Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA |
|
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|
|
| Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays |
|
|
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|
|
| Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1 |
|
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|
|
| Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer) |
|
|
|
|
|
|
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|
|
| Correction: Functional analysis of BRCA1 M1628V variant |
|
|
|
|
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|
|
| Genetics of dyslexia: the evolving landscape |
|
|
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|
|
| Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe |
|
|
|
|
|
|
|
|
|
| Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations |
|
|
|
|
|
|
✓ |
|
Ashkenazi |
| Gain-of-function gene mutations and venous thromboembolism: distinct roles in different clinical settings |
|
|
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|
|
| Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome |
|
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|
|
| Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy |
|
|
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|
|
| Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts |
|
|
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|
|
| Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region |
|
|
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|
|
| Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation |
|
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|
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|
|
|
|
| Integrin 3 Leu33Pro polymorphism increases BRCA1-associated ovarian cancer risk |
|
|
|
|
|
|
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|
|
| A hexanucleotide repeat upstream of eotaxin gene promoter is associated with asthma, serum total IgE and plasma eotaxin levels |
|
|
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|
|
|
|
|
|
| Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 |
|
|
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|
|
| Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2) |
|
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|
|
|
|
| The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus |
|
|
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|
|
| Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300 |
|
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|
|
| Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy |
|
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|
|
|
|
|
| Phenotypic and population differences in the association between CILP and lumbar disc disease |
|
|
|
|
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|
|
| Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency |
|
|
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|
|
| Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation |
|
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|
|
| X-linked retinoschisis: an update |
|
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| Congenital disorder of glycosylation type Ia presenting with hydrops fetalis |
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| Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia |
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| Sensorineural deafness and male infertility: a contiguous gene deletion syndrome |
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| A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network |
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| Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 |
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