| Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24 |
|
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| Somatic instability of the DNA sequences encoding the polymorphic polyglutamine tract of the AIB1 gene |
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| A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency |
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| Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction |
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| A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations |
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| Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and g |
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| Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hunermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype |
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| Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene |
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| Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia |
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| A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) |
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| Consequences of JAG1 mutations |
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| Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency |
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| Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects |
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| Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA) |
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| APOE and TGF- 1 genes are associated with obesity phenotypes |
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| Inbreeding and risk of late onset complex disease |
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| Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes |
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| Renoprotective efficacy of renin-angiotensin inhibitors in IgA nephropathy is influenced by ACE A2350G polymorphism |
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| Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility |
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| Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes |
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| Melatonin supplementation for severe and intractable sleep disturbance in young people with genetically determined developmental disabilities: short review and commentary |
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| Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme |
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| A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype |
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| Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX |
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| Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype |
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| Diagnosis of gene dosage alterations at the PMP22 gene using MAPH |
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| Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome |
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| Analysis of the Birt-Hogg-Dube (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer |
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| Mutations of the myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis |
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| Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects |
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| Susceptibility to Crohn's disease may lurk in enzyme mutation |
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| The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma |
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| Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14 |
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| Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects |
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| High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case |
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| Confirmation linkage study in support of the X chromosome harbouring a QTL underlying human height variation |
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| Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations |
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| A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract |
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| A Y chromosomal influence on prostate cancer risk: the multi-ethnic cohort study |
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| IBD5 risk haplotype and CARD15 variants add up to a bigger chance of Crohn's disease |
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| DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23 |
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| NOD2/CARD15 mutations do not affect early course of Crohn's disease |
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| Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism |
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| Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families |
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| Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load |
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| Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation |
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| Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C |
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| Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son |
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| Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation |
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| Identification of eight novel NSD1 mutations in Sotos syndrome |
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| In vivo reversion to normal of inherited mutations in humans |
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| Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity |
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| Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype |
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| Age at onset and female sex typify primary congenital glaucoma with CYP1B1 mutation |
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| Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia |
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| Transplanting CY282 heterozygous livers is risky |
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| Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 |
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| A tRNAAla mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy |
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| Finns with CARD15/N0D2 variants have more familial and invasive coeliac disease |
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| Genotype-phenotype correlations for cataracts in neurofibromatosis 2 |
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| Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene |
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| Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III |
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|
✓ |
|
Ashkenazi Jews |
| Effect of the peroxisome proliferator activated receptor- gene Pro12Ala variant on body mass index: a meta-analysis |
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| Genetic influences in gastro-oesophageal reflux disease: a twin study |
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| Receptor mediated effect of serotonergic transmission in patients with bipolar affective disorder |
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| A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology |
|
|
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|
|
✓ |
|
Ashkenazi Israelis |
| Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31 |
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|
|
| Evaluation of genotype-phenotype correlations in neurofibromatosis type 1 |
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| CHEK2 1100delC and colorectal cancer |
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| PTEN hamartoma tumour syndrome: variability of an entity |
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| Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy |
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| An alternative to FISH: detecting deletion and duplication carriers within 24 hours |
|
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|
| The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema |
|
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|
|
| A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B |
|
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|
|
| Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region |
|
|
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|
|
|
|
| BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer |
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|
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|
|
| The genetics of inherited macular dystrophies |
|
|
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|
|
| Demographic and phenotypic features of 70 families segregating Barrett's oesophagus and oesophageal adenocarcinoma |
|
|
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|
|
| HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours |
|
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|
|
|
| Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays |
|
|
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|
|
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|
|
| Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 |
|
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|
|
|
| Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries |
|
|
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|
|
| Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2) |
|
|
|
|
|
|
|
|
|
| Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3 |
|
|
|
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|
|
|
|
|
| Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations |
|
|
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|
|
|
|
|
|
| Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema |
|
|
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|
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|
|
|
|
| Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes |
|
|
|
|
|
|
|
|
|
| A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population |
|
|
|
|
|
|
|
|
|
| Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease |
|
|
|
|
|
|
|
|
|
| Non-random transmission of mutant alleles to female offspring of BRCA1 carriers in Poland |
|
|
|
|
|
|
|
|
|
| Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class |
|
|
|
|
|
|
|
|
|
| Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families |
|
|
|
|
|
|
|
|
|
| Promoter polymorphisms of the CD14 gene in Italian patients with coeliac disease |
|
|
|
|
|
|
|
|
|
| Further support for digenic inheritance in Bardet-Biedl syndrome |
|
|
|
|
|
|
|
|
|
| New approaches to investigating heterogeneity in complex traits |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations |
|
|
|
|
|
|
|
|
|
| Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD |
|
|
|
|
|
|
|
|
|
| New germline p53 mutation turns up multiple colon tumours |
|
|
|
|
|
|
|
|
|
| Rare eye condition maps within NNO1 locus for nanophthalmia |
|
|
|
|
|
|
|
|
|
| Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms |
|
|
|
|
|
|
|
|
|
| Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations |
|
|
|
|
|
|
|
|
|
| Doctors get closer to deciding the true birth prevalence of Prader-Willi syndrome |
|
|
|
|
|
|
|
|
|
| SPINK1 mutations predispose to chronic pancreatitis |
|
|
|
|
|
|
|
|
|
| Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer |
|
|
|
|
|
|
|
|
|
| A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families |
|
|
|
|
|
|
|
|
|
| Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome |
|
|
|
|
|
|
|
|
|
| Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome |
|
|
|
|
|
|
|
|
|
| Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene |
|
|
|
|
|
|
|
|
|
| RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections |
|
|
|
|
|
|
|
|
|
| Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy |
|
|
|
|
|
|
|
|
|
| Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide |
|
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|
|
|
|
|
| Small babies receive the cardiovascular protective apolipoprotein 2 allele less frequently than expected |
|
|
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|
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|
|
|
|
| Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3 |
|
|
|
|
|
|
|
|
|
| Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss |
|
|
|
|
|
|
|
|
|
| Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients |
|
|
|
|
|
|
|
|
|
| Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy |
|
|
|
|
|
|
|
|
|
| Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion |
|
|
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|
|
|
|
|
|
| Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing |
|
|
|
|
|
|
|
|
|
| Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred |
|
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|
|
|
|
|
|
| Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers |
|
|
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|
|
|
|
|
|
| Ser19->Trp polymorphism within the apolipoprotein AV gene in hypertriglyceridaemic people |
|
|
|
|
|
|
|
|
|
| Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies |
|
|
|
|
|
|
|
|
|
| De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones |
|
|
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|
|
|
|
|
|
| Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event |
|
|
|
|
|
|
|
|
|
| Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism? |
|
|
|
|
|
|
|
|
|
| Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. |
|
|
|
|
|
|
|
|
|
| Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia |
|
|
|
|
|
|
|
|
|
| A novel germline mutation in the MET extracellular domain in a Korean patient with the diffuse type of familial gastric cancer |
|
|
|
|
|
|
|
|
|
| BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland |
|
|
|
|
|
|
|
|
|
| Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome |
|
|
|
|
|
|
|
|
|
| Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previousl |
|
|
|
|
|
|
|
|
|
| Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9 |
|
|
|
|
|
|
|
|
|
| Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain |
|
|
|
|
|
|
|
|
|
| Visceral manifestations in hereditary haemorrhagic telangiectasia type 2 |
|
|
|
|
|
|
|
|
|
| K469E allele of ICAM 1 is a candidate for susceptibility to IBD |
|
|
|
|
|
|
|
|
|
| ... but CARD4/NO1 gene is not |
|
|
|
|
|
|
|
|
|
| Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics |
|
|
|
|
|
|
|
|
|
| Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours |
|
|
|
|
|
|
|
|
|
| A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 |
|
|
|
|
|
|
|
|
|
| Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestation |
|
|
|
|
|
|
|
|
|
| Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion |
|
|
|
|
|
|
|
|
|
| High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis |
|
|
|
|
|
|
|
|
|
| FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics |
|
|
|
|
|
|
|
|
|
| A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 |
|
|
|
|
|
|
|
|
|
| Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum |
|
|
|
|
|
|
|
|
|
| Myhre syndrome: new reports, review, and differential diagnosis |
|
|
|
|
|
|
|
|
|
| Huntington's disease: 3rd edition. Editors Gillian Bates, Peter S Harper, and Lesley Jones. Oxford: Oxford University Press. 2002. ISBN 0 19 851060 8 (Hbk) |
|
|
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|
|
|
|
|
|
| Prevalence of family histories of breast cancer in the general population and the incidence of related seeking of health care |
|
|
|
|
|
|
|
|
|
| A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype |
|
|
|
|
|
|
|
|
|
| Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy |
|
|
|
|
|
|
|
|
|
| Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA |
|
|
|
|
|
|
|
|
|
| Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations |
|
|
|
|
|
|
|
|
|
| Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers |
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| Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa |
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| Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele |
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| A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13 |
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| CORRECTION |
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| A unique form of hypodontia seen in Vietnamese patients: cinical and molecular analysis |
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| Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes |
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| Telomeres: a diagnosis at the end of the chromosomes |
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| Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate |
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| Feedback of pooled results to patients is best in population genetic studies |
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| Gene expression signatures identify novel regulatory pathways during murine lung development: implications for lung tumorigenesis |
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| A new genetic locus for X linked progressive cone-rod dystrophy |
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| Association of 3'-UTR polymorphisms of the oxidised LDL receptor 1 (OLR1) gene with Alzheimer's disease |
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| Spectrum of NSD1 mutations in Sotos and Weaver syndromes |
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| Haplotype analysis of distantly related populations implicates corneodesmosin in psoriasis susceptibility |
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| Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring |
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| Is the locus for Costello syndrome on 11p? |
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| Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes |
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| Modulation of methylation in the FMR1 promoter region after long term treatment with L-carnitine and acetyl-L-carnitine |
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| Microcephaly-cardiomyopathy syndrome: expansion of the phenotype |
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| Genetic information but not termination: pregnant women's attitudes and willingness to pay for carrier screening for deafness genes |
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| Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia |
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| Association of genetic variants in the HDL receptor, SR-B1, with abnormal lipids in women with coronary artery disease |
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| Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci |
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| Is growth hormone treatment beneficial or harmful in Costello syndrome? |
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| Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndrome |
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| Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients |
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| Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation |
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| Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes |
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| Disruption of the neuronal PAS3 gene in a family affected with schizophrenia |
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| Distinctive audiometric profile associated with DFNB21 alleles of TECTA |
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| Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis |
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| Evidence for linkage and association of the markers near the LPL gene with hypertension in Chinese families |
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✓ |
|
Chinese |
| Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography |
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| A common IL-1 complex haplotype is associated with an increased risk of atopy |
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| A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia |
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| Mutation and LOH analysis of ACO2 in colorectal cancer: no evidence of biallelic genetic inactivation |
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| NF1 mutations and clinical spectrum in patients with spinal neurofibromas |
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| Neuroferritinopathy in a French family with late onset dominant dystonia |
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| Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis |
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| The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism |
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| Gender specific association of aldosterone synthase gene polymorphism with renal survival in patients with IgA nephropathy |
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| Cancer surveillance is often inadequate in people at high risk for colorectal cancer |
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| Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy |
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| Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip |
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| Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India |
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| Mutations of the Birt-Hogg-Dube (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability |
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| Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? |
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| Experience of discharge from colonoscopy of mutation negative HNPCC family members |
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| Women's preferences and consultants' communication of risk in consultations about familial breast cancer: impact on patient outcomes |
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| Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients |
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| Novel sarcoglycan gene mutations in a large cohort of Italian patients |
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| ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy |
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| Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients |
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| Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9 |
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| Application of haplotype pair analysis for the identification of hemizygous loci |
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| Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome |
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| Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional hybrid tenascin-X (TNXB) gene |
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| Multicolour FISH fine mapping unravels an insertion as a complex chromosomal rearrangement involving six breakpoints and a 5.89 Mb large deletion |
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| Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome |
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| Mowat-Wilson syndrome |
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|
|
| A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32 |
|
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|
| Does apolipoprotein E polymorphism influence susceptibility to malaria? |
|
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| Partial trisomy 10q with mild phenotype caused by an unbalanced X;10 translocation |
|
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| Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy |
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|
|
| Similar hereditary motor neuropathies are not allelic disorders |
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|
|
| Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? |
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|
|
| CORRECTION |
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|
| Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies |
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|
| Chromosome 2 (2p16) abnormalities in Carney complex tumours |
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| A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase |
|
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|
|
| Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling |
|
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|
|
| SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations |
|
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|
|
| The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism |
|
|
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|
|
|
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|
|
| Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay |
|
|
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|
|
| A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome |
|
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|
|
| Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10 -1082 promoter SNP and its interaction with TNF-alpha -308 promoter SNP |
|
|
|
|
|
|
|
|
|
| Studies on the pathogenesis of Costello syndrome |
|
|
|
|
|
|
|
|
|
| Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions |
|
|
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|
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|
|
|
|
| A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students |
|
|
|
|
|
|
|
|
|
| Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 |
|
|
|
|
|
|
|
|
|
| Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1? |
|
|
|
|
|
|
|
|
|
| Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype |
|
|
|
|
|
|
|
|
|
| The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy |
|
|
|
|
|
|
|
|
|
| Absence of constitutional H2AX gene mutations in 101 hereditary breast cancer families |
|
|
|
|
|
|
|
|
|
| The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome |
|
|
|
|
|
|
|
|
|
| Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts |
|
|
|
|
|
|
|
|
|
| CORRECTION |
|
|
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|
|
|
| Rapid, inexpensive scanning for all possible BRCA1 and BRCA2 gene sequence variants in a single assay: implications for genetic testing |
|
|
|
|
|
|
|
|
|
| Single nucleotide polymorphism (SNP) analysis of mouse pulmonary adenoma susceptibility loci 1-4 for identification of candidate genes |
|
|
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|
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|
|
|
|
| Clinical presentation in female patients with Fabry disease |
|
|
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|
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|
|
| Genomic characterisation of C7orf10 in Silver-Russell syndrome patients |
|
|
|
|
|
|
|
|
|
| A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter |
|
|
|
|
|
|
|
|
|
| Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome |
|
|
|
|
|
|
|
|
|
| Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 |
|
|
|
|
|
|
|
|
|
| Genetic variation analysis of MLP, TFAP2A, and CSK in patients with neural tube defects |
|
|
|
|
|
|
|
|
|
| Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome |
|
|
|
|
|
|
|
|
|
| Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness |
|
|
|
|
|
|
|
|
|
| Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma |
|
|
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|
|
|
|
|
|
| Nail patella syndrome: a review of the phenotype aided by developmental biology |
|
|
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|
|
|
|
|
|
| A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia |
|
|
|
|
|
|
|
|
|
| Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation |
|
|
|
|
|
|
|
|
|
| Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism |
|
|
|
|
|
|
|
|
|
| Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism |
|
|
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|
|
|
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|
|
| The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency |
|
|
|
|
|
|
|
|
|
| Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene |
|
|
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|
|
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|
|
|
| Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases |
|
|
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|
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|
|
| Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips |
|
|
|
|
|
|
|
|
|
| Cancer risk in 348 French MSH2 or MLH1 gene carriers |
|
|
|
|
|
|
|
|
|
| Haptoglobin and its association with the HELLP syndrome |
|
|
|
|
|
|
|
|
|
| Significant frequency deviation of the class I polymorphism HLA-A10 in schizophrenic patients |
|
|
|
|
|
|
|
|
|
| Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay |
|
|
|
|
|
|
|
|
|
| Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy |
|
|
|
|
|
|
|
|
|
| From Aldrovandi's "Homuncio" (1592) to Buffon's girl (1749) and the "Wart Man" of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis? |
|
|
|
|
|
|
|
|
|
| Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease |
|
|
|
|
|
|
|
|
|
| No fumarate hydratase (FH) mutations in hereditary prostate cancer |
|
|
|
|
|
|
|
|
|
| Y chromosome haplotypes and testicular cancer in the English population |
|
|
|
|
|
|
|
|
|
| RNASEL mutations in hereditary prostate cancer |
|
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|
|
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|
|
| The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men |
|
|
|
|
|
|
✓ |
|
Ashkenazi Jewish |
| The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene |
|
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|
|
| Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy? |
|
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|
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|
|
|
| Little value from including cousins in individual risk assessment of hereditary breast cancer: a simulation study |
|
|
|
|
|
|
|
|
|
| Comprehensive microsatellite marker analysis contradicts previous report of segmental maternal heterodisomy of chromosome 14 |
|
|
|
|
|
|
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|
|
| Analphoid de novo marker chromosome inv dup(3)(q28qter) with neocentromere in a dysmorphic and developmentally retarded girl |
|
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|
|
|
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|
|
| Partial hexasomy 15pter->15q13 including SNRPN and D15S10: first molecular cytogenetically proven case report |
|
|
|
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|
|
|
| Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome |
|
|
|
|
|
|
|
|
|
| Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples |
|
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|
|
|
|
|
|
| High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil |
|
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|
|
| A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy |
|
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|
|
| Association of the CD14 gene -159C polymorphism with progression of IgA nephropathy |
|
|
|
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|
|
| Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas |
|
|
|
|
|
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|
|
| A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis |
|
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|
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|
|
|
| Independent NF1 mutations in two large families with spinal neurofibromatosis |
|
|
|
|
|
|
|
|
|
| A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome |
|
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|
|
| Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family |
|
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|
|
|
| Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome |
|
|
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|
|
|
| The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome |
|
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|
|
|
| Relationship between microsatellite polymorphism in the haem oxygenase-1 gene promoter and longevity of the normal Japanese population |
|
|
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|
|
|
| Molecular Cytogenetics Protocols and Applications: Methods in Molecular Biology Volume 204. Editor Yao-Shan Fan. (Pp 424; $135.00.) Totowa, NJ: Humana Press. 2002. ISBN 1-58829-006-9. |
|
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|
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| Corrections |
|
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|
|
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|
|
|
| Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias |
|
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|
|
|
|
|
| Transient transfection permits analysis of mismatch repair genes |
|
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|
|
| Angelman syndrome: a review of the clinical and genetic aspects |
|
|
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|
|
| Effect of TNF and LTA polymorphisms on biological markers of response to oxidative stimuli in coal miners: a model of gene-environment interaction |
|
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|
|
| Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients |
|
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|
|
|
| SHOX mutations detected by FISH and direct sequencing in patients with short stature |
|
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|
|
| Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations |
|
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|
|
| Developmental delay and the methyl binding genes |
|
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|
| Mutational analysis of N-ras, p53, CDKN2A (p16INK4a), p14ARF, CDK4, and MC1R genes in human dysplastic melanocytic naevi |
|
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| A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype |
|
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| Appraisal of genetic and epigenetic congruity of a monozygotic twin pair discordant for schizophrenia |
|
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| Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease |
|
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|
|
| COPD research is urged to get interactive |
|
|
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|
|
| Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus |
|
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|
|
| beta1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome |
|
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|
| Early onset asymmetrical intrauterine growth retardation with fetal hypokinesia and variable expression of acral and genitourinary malformations: a new lethal MCA syndrome |
|
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|
|
| No correlation between phenotype and genotype in boys with a truncating MECP2 mutation |
|
|
|
|
|
|
|
|
|
| Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation |
|
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|
|
| The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene |
|
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| Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation |
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| CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients |
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✓ |
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✓ |
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European patients; Indonesian patients |
| Fanconi anaemia |
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| A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients |
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| The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men |
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| Differential targets of CpG island hypermethylation in primary and metastatic head and neck squamous cell carcinoma (HNSCC) |
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| In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome |
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| Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus |
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| Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene |
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| Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene |
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| P63 mutations are not a major cause of non-syndromic split hand/foot malformation |
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| Beckwith-Wiedemann syndrome and assisted reproduction technology (ART) |
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| Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W |
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| Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome |
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| Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? |
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| Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants |
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| No association between the EN2 gene and autistic disorder |
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