| Heterogeneous tissue distribution of a mitochondrial DNA polymorphism in heteroplasmic subjects without mitochondrial disorders |
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| Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements |
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| A community based study on intentions regarding predictive testing for hereditary breast cancer |
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| A clinical study of patients with multiple isolated neurofibromas |
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| Methylation matters |
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| A dominant gene for developmental dyslexia on chromosome 3 |
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| Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 |
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| DEFECT 11 syndrome associated with agenesis of the corpus callosum |
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| The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome |
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| Stable non-Robertsonian dicentric chromosomes: four new cases and a review |
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| Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations |
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| The importance of good images in using hair to screen for breast cancer |
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| Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay |
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| How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation |
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| Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS) |
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| A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH |
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| Twenty CAG repeats are sufficient to cause the SCA6 phenotype |
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| Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment |
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| Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus |
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| Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH |
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| A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? |
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| Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia |
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| A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? |
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| Homoplasmic 3316Gright-arrowA in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? |
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| Science or black magic? |
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| A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms |
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| Correction for vol. 37, p. 897 |
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| Mitochondrial DNA inheritance in patients with deleted mtDNA |
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| A novel acropectoral syndrome maps to chromosome 7q36 |
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| A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion |
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| Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification |
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| Rett syndrome and the MECP2 gene |
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| Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 |
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| Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome |
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| Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14 |
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| The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review |
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| Participation in preconceptional carrier couple screening: characteristics, attitudes, and knowledge of both partners |
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| Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region |
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| Two hits revisited again |
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| Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients |
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| Clinical studies on submicroscopic subtelomeric rearrangements: a checklist |
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| Role of TP53 P72R polymorphism in human papillomavirus associated premalignant laryngeal neoplasm |
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| A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family |
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| A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene |
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| B cell immunodeficiency, distal limb abnormalities, and urogenital malformations in a three generation family: a novel autosomal dominant syndrome? |
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| A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment |
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| Predictive genetic testing in children and adults: a study of emotional impact |
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| Presymptomatic testing in myotonic dystrophy: genetic counselling approaches |
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| Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus |
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| Non-invasive evaluation of arterial involvement in patients affected with Fabry disease |
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| A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? |
|
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| Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome |
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| Male breast cancer in Cowden syndrome patients with germline PTEN mutations |
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| Persisting memories of Cyril Clarke in Baltimore |
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| PTEN mutations are uncommon in Proteus syndrome |
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| Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion |
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| Sulphate transporter gene mutations in apparently isolated club foot |
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| Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q) |
|
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|
|
| Novel mutations of <i>TMPRSS3</i> in four DFNB8/B10 families segregating congenital autosomal recessive deafness |
|
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|
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| Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome |
|
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| The whole truth and nothing but the truth, but what is the truth? |
|
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| Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain |
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| MECP2 mutation in non-fatal, non-progressive encephalopathy in a male |
|
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| Temperature sensitive acyl-CoA oxidase import in group A peroxisome biogenesis disorders |
|
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| Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm |
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|
| Coeliac disease in Williams syndrome |
|
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| Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? |
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| A missense mutation in the <i>SEDL</i> gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree |
|
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| Distal arthrogryposis: a new type with distinct facial appearance and absent teeth |
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| Screening families with endometrial and colorectal cancers for germline mutations |
|
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| Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion |
|
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|
|
| A new case of exomphalos, short limbs, and macrogonadism syndrome |
|
|
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|
|
| Interstitial deletion of 3p22.2-p24.2: the first reported case |
|
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|
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| Mutations in<i>cis</i>can confound genotype-phenotype correlations in hypertrophic cardiomyopathy |
|
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|
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| Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations |
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| Sensitivity and predictive value of criteria for p53germline mutation screening |
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| Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci |
|
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| Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study |
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|
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| The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis |
|
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|
|
| A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome |
|
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|
|
| Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome |
|
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|
|
| Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients |
|
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|
|
| Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q2 |
|
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|
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| High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample |
|
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|
|
| Eight years' experience of direct molecular testing for myotonic dystrophy in Wales |
|
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|
|
| A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico |
|
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|
|
| Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies |
|
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|
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|
|
| Identification of a large rearrangement of the<i>BRCA1</i> gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing |
|
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|
|
| High resolution comparative genomic hybridisation in clinical cytogenetics |
|
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|
|
| Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4 |
|
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|
|
| Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer |
|
|
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|
|
| Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder |
|
|
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|
|
|
|
|
|
| Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss |
|
|
|
|
|
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|
|
|
| Cytogenetic and molecular study of a jumping translocation in a baby with Dandy-Walker malformation |
|
|
|
|
|
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|
|
| Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that the LAMA1 gene is involved? |
|
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|
|
| A polymorphism in the gene for microsomal epoxide hydrolase is associated with pre-eclampsia |
|
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|
|
| Molecular characterisation of a proximal chromosome 18q deletion |
|
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|
|
| Peutz-Jeghers families unlinked to<i>STK11/LKB1</i> gene mutations are highly predisposed to primitive biliary adenocarcinoma |
|
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|
|
| Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method |
|
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|
|
| Wild type huntingtin reduces the cellular toxicity of mutant huntingtin in mammalian cell models of Huntington's disease |
|
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|
|
| Variation of iron loading expression in C282Y homozygous haemochromatosis probands and sib pairs |
|
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|
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| Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease |
|
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|
|
| Ectodermal dysplasias: a new clinical-genetic classification |
|
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|
|
| The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications |
|
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|
|
| Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome |
|
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|
|
| Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test |
|
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|
|
| Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family |
|
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|
Austrian |
| Thrombophilic polymorphisms in pre-eclampsia: altered frequency of the functional 98C>T polymorphism of glycoprotein IIIa |
|
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|
|
| Limited contribution of interchromosomal gene conversion to NF1 gene mutation |
|
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|
|
| A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation |
|
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|
|
| Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions |
|
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|
|
| A novel 3600+11.5 kb C>G homozygous splicing mutation in a black African, consanguineous CF family |
|
|
|
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|
|
✓ |
|
black African |
| Functional characterisation of mitochondrial tRNATyr mutation (5877Gright-arrowA) associated with familial chronic progressive external ophthalmoplegia |
|
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|
|
| Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations |
|
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| Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance |
|
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| A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association |
|
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|
|
| Mutations in the glycine receptor α1 subunit (<i>GLRA1</i>) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C |
|
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| Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism |
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| Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy |
|
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|
| Cyril Clarke, Journal of Medical Genetics, and the foundation of clinical genetics |
|
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|
| JMG Online: exploiting the potential of electronic publication and manuscript submission |
|
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|
| Does Bardet-Biedl syndrome have a characteristic face? |
|
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| De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity |
|
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|
|
| Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation |
|
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|
| Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in <i>NBS1</i> |
|
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|
|
| Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child |
|
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|
|
| Association of a novel constitutional translocation t(1q;3q) with familial renal cell carcinoma |
|
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|
|
| The −48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain |
|
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|
| An atlas of preimplantation genetic diagnosis |
|
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|
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| VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality |
|
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| Recessively inherited lower incisor hypodontia |
|
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| Sponastrime dysplasia: presentation in infancy |
|
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| Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation |
|
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|
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|
|
| Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer |
|
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|
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| SHOX point mutations in dyschondrosteosis |
|
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| A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex |
|
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|
|
| Cultural aspects of cancer genetics: setting a research agenda |
|
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|
| A supernumerary marker chromosome with a neocentromere derived from 5p14right-arrowpter |
|
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| Ocular malformations, postaxial polydactyly, and delayed intramembranous ossification: a new autosomal dominant condition |
|
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|
|
| Congenital diaphragmatic hernia and interstitial deletion of chromosome 3 |
|
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|
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|
|
| Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma |
|
|
|
|
|
|
|
|
|
| No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia |
|
|
|
|
✓ |
|
|
|
European patients |
| De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer |
|
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|
|
|
|
|
|
|
| No evidence for mosaicism in Silver-Russell syndrome |
|
|
|
|
|
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|
|
| Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease |
|
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|
|
| Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procol |
|
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| A case of Roberts syndrome described in 1737 |
|
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| An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality |
|
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|
| Mutation and haplotype analysis of the CFTR gene in atypically mild cystic fibrosis patients from Northern Ireland |
|
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|
|
| New problems in testing for Huntington's disease: the issue of intermediate and reduced penetrance alleles |
|
|
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|
|
|
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|
|
| <i>BRCA1</i> and<i>BRCA2</i> mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age |
|
|
|
|
|
|
✓ |
✓ |
Danish; other populations |
| Distinct phenotypes distinguish the molecular classes of Angelman syndrome |
|
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|
|
| Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes |
|
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| Hair roots as the ideal source of mRNA for genetic testing |
|
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| beta1-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome |
|
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| Familial non-medullary thyroid cancer in Iceland |
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| Triplication of several PAR1 genes and part of the Homo sapiens specific Yp11.2/Xq21.3 region of homology in a 46,X,t(X;Y)(p22.33;p11.2) male with schizophrenia |
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| Association between the defective Pro369Ser mutation and in vivo intrahepatic alpha1-antitrypsin accumulation |
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| Oncology nurse training in cancer genetics |
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| Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations |
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| GATA3 abnormalities and the phenotypic spectrum of HDR syndrome |
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✓ |
✓ |
Japanese families |
| SHOX haploinsufficiency and overdosage: impact of gonadal function status |
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| Prenatal testing for Huntington's disease: experience within the UK 1994-1998 |
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| Defining the genetic contribution of type 2 diabetes mellitus |
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| Inherited Disorders and their Genes in Different European Populations |
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✓ |
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European Populations |
| Comparative Genomics. |
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| A distinct splice form of APC is highly expressed in neurones but not commonly mutated in neuroepithelial tumours |
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| Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females |
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| Psychological studies in Huntington's disease: making up the balance |
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| Haptoglobin genotype as a risk factor for postmenopausal osteoporosis |
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| Suggestive linkage of situs inversus and other left-right axis anomalies to chromosome 6p |
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| Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location |
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| Wolfram syndrome: a clinical and molecular genetic analysis |
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| High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects |
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| Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree |
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| Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly |
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| A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour |
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| Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association |
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| Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism |
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| E-cadherinis not frequently mutated in hereditary gastric cancer |
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| Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies |
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| Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions |
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| A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene |
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| Maternal gene effect in neurofibromatosis 2: fact or artefact? |
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| Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects |
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| MET mutation and familial gastric cancer |
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| The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome |
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| Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET |
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| Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis |
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| Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene |
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| A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases |
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| The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate |
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| Surveillance or surgery? A description of the factors that influence high risk premenopausal women's decisions about prophylactic oophorectomy |
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| Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications |
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| Molecular genetic heterogeneity in autosomal dominant drusen |
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| Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males |
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| Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA<sup>Gln</sup> |
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| Genotype-phenotype correlation in hereditary multiple exostoses |
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| A transmitted deletion of 2q13 to 2q14.1 causes no phenotypic abnormalities |
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| Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect |
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| Comprehension of cancer risk one and 12 months after predictive genetic testing for hereditary non-polyposis colorectal cancer |
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| A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family |
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| Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) |
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| Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2 |
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| Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families |
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| Diaphragmatic hernia, hydrocephalus, and cardiac malformations in four pregnancies of a non-consanguineous couple |
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| Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese |
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| Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype |
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| A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene |
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| Maternally inherited duplication of the possible imprinted 14q31 region |
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| Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 |
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| Mutations in SURF1 are not specifically associated with Leigh syndrome |
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| Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland |
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| Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein |
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| A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population |
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✓ |
|
Amish Mennonite population |
| Correction for vol. 37, p. 241 |
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| Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning |
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| Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM |
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| Fibrinogen genotypes (alpha and beta) are associated with plasma fibrinogen levels in Chinese |
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✓ |
|
Chinese |
| A comparison of methods for gene dosage analysis in HMSN type 1 |
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| Potential mapping of corneal dermoids to Xq24-qter |
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| Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2 |
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| The androgen receptor and DXS15-134 markers show a high rate of discordance for germline X chromosome inactivation |
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| GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype |
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| Molecular and clinical study of two myotonic dystrophy homozygotes |
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| Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1->qter duplication |
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| Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome |
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| Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22 |
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| Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym |
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| A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA |
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| Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation |
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| Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene |
|
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✓ |
|
Lebanese population |
| Maternal uniparental isodisomy 11q13right-arrowqter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13right-arrowqter |
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| Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional proalpha2(I) chain and an EDS/OI clinical phenotype |
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| Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy |
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| Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism |
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| Annual Review of Genomics and Human Genetics |
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| De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes |
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| Identification of a transcriptionally compromised allele ofc-MYC in a North American family |
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| Decoding Darkness - The Search for the Genetic Causes of Alzheimer's Disease. |
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| Cyril Astley Clarke |
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| Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus |
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| Detection of a large TBX5 deletion in a family with Holt-Oram syndrome |
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| A novel mutation and novel features in Nijmegen breakage syndrome |
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| Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? |
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| Genetic analysis of the connexin-26 M34T variant |
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| Hirschsprung disease, associated syndromes, and genetics: a review |
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| Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material |
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| Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis |
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| An atlas of preimplantation genetic diagnosis |
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