| Prevalence of mitochondrial gene mutations among hearing impaired patients |
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| Two further cases of Sener syndrome: frontonasal dysplasia and dilated Virchow-Robin spaces |
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| Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH |
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| Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type |
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| Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis |
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| Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q |
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| Can hair be used to screen for breast cancer? |
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| Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium |
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| Genetic registers in clinical practice: a survey of UK clinical geneticists |
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| Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis |
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| An analphoid supernumerary marker chromosome derived from chromosome 3 ascertained in a fetus with multiple malformations |
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| Screening British CADASIL families for mutations in the NOTCH3 gene |
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| Detecting low penetrance genes in cancer: the way ahead |
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| Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients |
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| Cryptic subtelomeric translocations in the 22q13 deletion syndrome |
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| Anticipation in progressive diaphyseal dysplasia |
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| FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY |
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| 2157delG: a frequent mutation in BRCA2 missed by PTT |
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| A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland |
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| Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients |
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| Hall-Riggs syndrome: a possible second affected family? |
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| Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations |
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| Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism |
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| Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome |
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| The heritability of high myopia: a reanalysis of Goldschmidt's data |
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| Novel mutation in the MYOC gene in primary open angle glaucoma patients |
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| Over-representation of PPARgamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general populatio |
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| Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs |
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| Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes |
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| Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia |
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| Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness |
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| A case of dyschondrosteosis from Roman Britain |
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| Neurofibromatosis type 2 |
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| Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene |
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| Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations |
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| Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? |
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| Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation |
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| Duplication of medial 15q confirmed by FISH |
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| Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31 |
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| Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon 4 allele as risk factors in Alzheimer's disease and in Parkinson's disease wit |
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| A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis |
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| Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex |
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| Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications |
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| FRAXA and FRAXE: the results of a five year survey |
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| Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry |
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| Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome |
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| Identification of novel alleles at a polymorphic microsatellite repeat region in the human NRAMP1 gene promoter: analysis of allele frequencies in primary biliary cirrhosis |
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| Efficacy of a touchscreen computer based family cancer history questionnaire and subsequent cancer risk assessment |
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| No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families |
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| Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele |
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| Recurrent germline mutation in MSH2 arises frequently de novo |
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| The ACE gene and Alzheimer's disease susceptibility |
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| Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis |
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| Low frequency of microsatellite instability in BRCA1 mutated breast tumours |
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| Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full m |
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| Identification of three novel frameshift mutations in patients with Friedreich's ataxia |
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| Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal cancer |
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| Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling |
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| Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer |
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| Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia |
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✓ |
|
Africans |
| An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling |
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| Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status |
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| 5p14 deletion associated with microcephaly and seizures |
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| Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B) |
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| Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF |
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| The mitochondrial genome in Wolfram syndrome |
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| Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2 |
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| Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy |
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| Mutations in the MECP2 gene in a cohort of girls with Rett syndrome |
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| Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism |
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| Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles |
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| New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes |
|
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| A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25 |
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| Proximal 10q trisomy: a new case with anal atresia |
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| Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22 |
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| Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy |
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| Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1) |
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| Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families |
|
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| Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1 |
|
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| Evidence based medicine in practice: lessons from a Scottish clinical genetics project |
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| Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts |
|
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| Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germline PTEN mutations |
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| Autosomal translocation associated with premature ovarian failure |
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| Craniosynostosis. Diagnosis, evaluation and management. |
|
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| An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito |
|
|
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|
|
|
|
|
| A search for evidence of somatic mutations in the NF1 gene |
|
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|
| Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family |
|
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|
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|
|
| Two translocations of chromosome 15q associated with dyslexia |
|
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|
| Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon |
|
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|
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|
|
| Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |
|
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|
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| Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation |
|
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|
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| The relationship between neonatal immunoreactive trypsinogen, Delta F508, and IVS8-5T |
|
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|
|
| Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) |
|
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|
|
| Delineation of a new syndrome: clustering of pyloric stenosis, endometriosis, and breast cancer in two families |
|
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|
|
| MPS II in females: molecular basis of two different cases |
|
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| Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia |
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| Of palms, soles, and gums |
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| A supernumerary marker chromosome originating from two different regions of chromosome 18 |
|
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| Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations |
|
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|
|
| Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa (RP25) |
|
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| Why patients do not attend for their appointments at a genetics clinic |
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| Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q |
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|
|
| Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy |
|
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|
| Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl |
|
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|
|
| Why do women attend familial breast cancer clinics? |
|
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| Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer |
|
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|
| Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man |
|
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|
| Growth in North American white children with neurofibromatosis 1 (NF1) |
|
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|
| No evidence of germline PTEN mutations in familial prostate cancer |
|
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|
|
| Incidence and molecular mechanism of aberrant splicing owing to a Gright-arrowC splice acceptor site mutation causing Smith-Lemli-Opitz syndrome |
|
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|
|
| Absence of germline p16INK4a alterations in p53 wild type Li-Fraumeni syndrome families |
|
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|
|
| Interstitial deletion of chromosome 17 (del(17)(q22q23.3)) confirms a link with oesophageal atresia |
|
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| A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families |
|
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| Genetics of club foot in Maori and Pacific people |
|
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| Chromosomal duplication of band 10p14 segregating through four generations |
|
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| The Principles of Clinical Cytogenetics |
|
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| Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene |
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|
| First description of germline mosaicism in familial hypertrophic cardiomyopathy |
|
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| Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot |
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| Guidelines for a genetic risk based approach to advising women with a family history of breast cancer |
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| Genetics and deafness: what do families want? |
|
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| Characterisation and genetic mapping of a new X linked deafness syndrome |
|
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| Hemiplegic cerebral palsy and the factor V Leiden mutation |
|
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| Desmin splice variants causing cardiac and skeletal myopathy |
|
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| The Smith-Lemli-Opitz syndrome |
|
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| Prevalent connexin 26 gene (GJB2) mutations in Japanese |
|
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| ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein |
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| Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay |
|
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| Xp;Yp translocation inherited from the father in an SRY, RBM, and TSPY positive true hermaphrodite with oligozoospermia |
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| Somatic mosaicism associated with a mild Alport syndrome phenotype |
|
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| The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600 |
|
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| The CAG repeat within the androgen receptor gene in male breast cancer patients |
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| Absence of fragile X syndrome in Nova Scotia |
|
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| Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome |
|
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| A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome |
|
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| The first three mosaic cri du chat syndrome patients with two rearranged cell lines |
|
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| Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population |
|
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|
| Prenatal detection of trisomy for the entire long arm of chromosome 7 |
|
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| DiGeorge syndrome with discordant phenotype in monozygotic twins |
|
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| Molecular diagnosis is important to confirm suspected pseudoachondroplasia |
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| The mutation spectrum in Holt-Oram syndrome |
|
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|
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|
| The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) |
|
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|
|
|
| A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients |
|
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|
|
| Progressive neurological deterioration in a child with distal arthrogryposis and whistling face |
|
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| Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation |
|
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|
| Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family |
|
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|
| Achondroplasia with the FGFR3 1138gright-arrowa (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father |
|
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|
|
| The psychological impact of a cancer family history questionnaire completed in general practice |
|
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|
| Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a Norwegian family |
|
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|
|
| Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in The Netherlands |
|
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|
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|
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|
|
| Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome |
|
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|
| Equal expression of type X collagen mRNA from mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid |
|
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|
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|
|
| Constitutional WT1 mutations correlate with clinical features in children with progressive nephropathy |
|
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|
|
| I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels |
|
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| Genetic susceptibility to age related macular degeneration |
|
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| Age and sex based genetic locus heterogeneity in type 1 diabetes |
|
|
|
|
|
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| Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AAright-arrowG shows a severe phenotype |
|
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|
|
| Does the survival motor neuron protein (SMN) interact with Bcl-2? |
|
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| A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q |
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| Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland |
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| NF2 gene deletion in a family with a mild phenotype |
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| A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity |
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| Clinical geneticists' attitudes and practice towards testing for breast cancer susceptibility genes |
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| Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene |
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| The genetics of childhood cataract |
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| Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism |
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| Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease |
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| A clinical study of 57 children with fetal anticonvulsant syndromes |
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| Autosomal dominant sacral agenesis: Currarino syndrome |
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| Detailed mapping of a congenital heart disease gene in chromosome 3p25 |
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| A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I |
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| Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes |
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| A survey of the current clinical facilities for the management of familial cancer in Europe |
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| Mutation analysis in glutaric aciduria type I |
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| A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) |
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| The molecular genetics of Marfan syndrome and related microfibrillopathies |
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| Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis |
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| Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination |
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| Recurrence risks in undiagnosed mental retardation |
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| Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 |
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| Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients |
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| A locus for primary ciliary dyskinesia maps to chromosome 19q |
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| Silver-Russell syndrome and ring chromosome 7 |
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| Analysis of the human tumour necrosis factor-alpha (TNFalpha ) gene promoter polymorphisms in children with bone cancer |
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| A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss |
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| Genotype-phenotype correlations in tuberous sclerosis |
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| Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome |
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| Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up |
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| Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene |
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| Partial tetrasomy 21 in a male infant |
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| CHARGE association in a child with de novo chromosomal aberration 46,X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping |
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| Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1 |
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| Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2 |
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| Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation |
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| Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only |
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| A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype |
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| Many Delta F508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation |
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| Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation |
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| Attitudes of von Hippel-Lindau disease patients towards presymptomatic genetic diagnosis in children and prenatal diagnosis |
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| Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43 |
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| Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome |
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| Identification of PTEN mutations in metastatic melanoma specimens |
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| Two common forms of the human MLH1 gene may be associated with functional differences |
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| Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE |
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| Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer |
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| A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer |
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| Friedreich ataxia: an overview |
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| Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome |
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| Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review |
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| Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb |
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| Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis |
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| The ACE I allele is associated with increased risk for ruptured intracranial aneurysms |
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| Novel mutations in the homogentisate- 1,2-dioxygenase gene identified in Slovak patients with alkaptonuria |
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| BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease |
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| Mapping of the human genes (SLC23A2 and SLC23A1) coding for vitamin C transporters 1 and 2 (SVCT1 and SVCT2) to 5q23 and 20p12, respectively |
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| Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby |
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| Eye and Face in Syndromes - The Clinical Examination of Eyes and their Surroundings. |
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| RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease |
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| Deletion (2)(p14p15) in a child with severe neurodevelopmental delay |
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| Germline and somatic mosaicism in achondroplasia |
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| Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history |
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| Chromatin modification and disease |
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| Distal trisomy 2p and arachnodactyly |
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| No evidence for imprinting in distal 18q |
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| Unilateral lobar pulmonary agenesis in sibs |
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| Mosaicism in Alport syndrome and genetic counselling |
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| An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 |
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| Channelopathies: ion channel defects linked to heritable clinical disorders |
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| Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII |
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| Mutation screening in Rett syndrome patients |
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| Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation |
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| Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome |
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| Achondroplasia and nail-patella syndrome: the compound phenotype |
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| Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation |
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| Variants of STAT6 (signal transducer and activator of transcription 6) in atopic asthma |
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| Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA |
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| Idiopathic multicentric osteolysis presents early and is not linked to chromosome 18q21.1 |
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| Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C |
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| Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland |
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| Correlation between mutations and age in cystic fibrosis in a French Canadian population |
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| Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r) |
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| Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS) |
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| A family with hereditary port wine stain |
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| Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels |
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| A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma |
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| JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype |
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| Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy |
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| A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22) |
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| Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH) |
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| Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes |
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| Characterisation of the human GFRalpha -3 locus and investigation of the gene in Hirschsprung disease |
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| Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects |
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| Two novel germline mutations of the retinoblastoma gene (RB1) that show incomplete penetrance, one splice site and one missense |
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| Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6 |
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| Dysmorphic sibs trisomic for the region 6q22.1right-arrow6q23.3 |
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| Novel germline mutations in the PTEN tumour suppressor gene found in women with multiple cancers |
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| Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2) |
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| Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36 |
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| Bardet-Biedl and Cohen syndromes: differential diagnostic criteria |
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| The continuing failure to recognise Alstrom syndrome and further evidence of genetic homogeneity |
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| The gene for branchio-oculo-facial syndrome does not colocalise to the EYA1-4 genes |
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| Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity |
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| A case of inv dup(8p) with early onset breast cancer |
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| Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome |
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| FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations |
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| Will the real Cowden syndrome please stand up: revised diagnostic criteria |
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| Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene |
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| Familial Wilms tumour resulting from WT1 mutation: intronic polymorphism causing artefactual constitutional homozygosity |
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| The role of hypermethylation of the hMLH1 promoter region in HNPCC versus MSI+ sporadic colorectal cancers |
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| Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder |
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| Detection of fetal cells in transcervical samples using X22 marker |
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| Pure trisomy 20p resulting from isochromosome formation and whole arm translocation |
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| Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? |
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| Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation |
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| Shared decision making and non-directiveness in genetic counselling |
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| A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment |
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| Deletion and duplication of the adenomatous polyposis coli gene resulting from an interchromosomal insertion involving 5(q22q23.3) in the father |
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| Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears |
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| Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype |
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