| Mismatch repair gene analysis in Catalonian families with colorectal cancer |
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| Mutation analysis in the candidate Mobius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10 |
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| SHOX point mutations and deletions in Leri-Weill dyschondrosteosis |
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| Serrated adenoma and APC gene mutation |
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| Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses |
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| Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia |
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| Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future |
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| Human T and risk for neural tube defects |
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| Molecular changes in skin predict predisposition to breast cancer |
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| Genetics for Haematologists: The Molecular Genetic Basis of Haematological Disorders: Wadie F Bahou. ReMEDICA Genetics for . . . Series. Series Editor, Eli Hatchwell. (Pp 142; pound25.) London: ReMEDI |
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| Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome |
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| Cancers of the small and large bowel originate differently |
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| Reproductive counselling for women with myotonic dystrophy |
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| A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation |
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| Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome |
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| Familial adult renal neoplasia |
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| Dysmorphic Syndromes and Constitutional Diseases of the Skeleton : G Canepa, P Maroteaux, V Pietrogrande. Padova: Piccin Nuova Libraria, 2001. |
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| Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients |
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✓ |
|
Italian |
| A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2 |
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| Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? |
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| Antiepileptic drug therapy during pregnancy: the neurologist's perspective |
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| Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene |
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| Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes |
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| An aetiological study of 25 mentally retarded adults with autism |
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| A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? |
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| Genetic characterisation of patients with multiple colonic polyps |
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| Association of polymorphisms and allelic combinations in the tumour necrosis factor-alpha-complement MHC region with coronary artery disease |
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| Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? |
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| ATM mutations in Finnish breast cancer patients |
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Finnish |
| Adrenal Disease in Childhood. Clinical and Molecular Aspects : Editors Ieuan A Hughes, Adrian J L Clark. Basle: Karger. 2001. ISBN 1421/7082. |
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| Limited role for HLA DR15 in MS |
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| Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis |
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| Robinow syndrome |
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| Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome |
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| Paternal contribution to the risk for pre-eclampsia |
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| A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts |
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| Absence of 22q11 deletions in 211 patients with developmental delay analysed using PCR |
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| In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients |
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| Colour Atlas of Genetics: 2nd edition. Eberhard Passarge. (Pp 457.) Stuttgart: Thieme. 2001. ISBN 3-13-100362-6. New York: Thieme. 2001. ISBN 0-86577-958-9. |
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| Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families |
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| Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations |
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| National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology |
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| Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease |
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| Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts |
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| ARC syndrome is not so rare |
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| Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions |
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| Supportive evidence for the DYX3 dyslexia susceptibility gene in Canadian families |
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| Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13 |
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| Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? |
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| Omphalocele in three generations with autosomal dominant transmission |
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| A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma |
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| High frequency of skewed X inactivation in young breast cancer patients |
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| Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15 |
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| Leber hereditary optic neuropathy |
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| Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q |
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| A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36 |
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| Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma |
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| Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers |
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| Genes versus environment in ocular refraction |
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| Gene carriers face other risks |
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| A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype |
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| Mosaicism for FMR1 and FMR2 deletion: a new case |
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| Genome screening of coeliac disease |
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| Guilt by association? |
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| Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR) |
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| A locus for isolated cataract on human Xp |
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| Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations |
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| Catalogue of Unbalanced Chromosome Aberrations in Man: 2nd edition. Albert Schinzel. (Pp 966; SFr 397.) Berlin: Walter de Gruyter, 2001. ISBN 3-11-011607-3. |
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| Unique de novo mutation of BRCA2 in a woman with early onset breast cancer |
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| Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease |
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|
| Refined mapping of the gene for otopalatodigital syndrome type I |
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| Inositol and folate resistant neural tube defects |
|
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|
| Branchio-oculo-facial syndrome and branchio-otic/branchio-oto-renal syndromes are distinct entities |
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|
|
| A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense |
|
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|
|
| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas |
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|
| Genetics for Dermatologists: The Molecular Genetic Basis of Dermatological Disorders: Sherri J Bale. (pound25, $40.) London: ReMEDICA Publishing. 2000. ISBN 0 901346 10 2 |
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|
| Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility |
|
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|
|
| Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q |
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|
| Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas |
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|
| Malignant peripheral nerve sheath tumours in neurofibromatosis 1 |
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| Cystatin C gene and exudative age related macular degeneration are linked |
|
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|
|
| Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations |
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|
|
| Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) |
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|
| A case of Costello syndrome and glycogen storage disease type III |
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| Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region |
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| Covert operations |
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|
| Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects |
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|
|
| Current status of human chromosome 14 |
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|
|
| DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot) |
|
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|
|
| The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly |
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|
|
| Human gene mutations causing infertility |
|
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|
|
| A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels |
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| Correction |
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|
|
| Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome |
|
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|
| Another risk factor for MI? |
|
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|
|
| Hereditary non-polyposis colorectal cancer: current risks of colorectal cancer largely overestimated |
|
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|
|
| Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions |
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| The null oncogene hypothesis and protection from cancer |
|
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|
|
| A school based study of children with learning disability indicates poor levels of genetic investigation |
|
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|
| Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate |
|
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| Preconceptional couple screening for cystic fibrosis carrier status: couples prefer full disclosure of test results |
|
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|
| Testing for osteogenesis imperfecta in cases of suspected non-accidental injury |
|
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|
|
| An investigation of ACE as a risk factor for dementia and cognitive decline in the general population |
|
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|
|
| Relationship between genotype and phenotype for the CFTR gene W846X mutation |
|
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|
|
| Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 |
|
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|
|
| Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere |
|
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|
| When HFE gene mutation doesn't make sense |
|
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|
|
| Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance |
|
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|
|
| Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany |
|
|
|
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|
|
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|
|
| Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1 |
|
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|
|
✓ |
|
Finnish |
| An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1 |
|
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|
| A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction |
|
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|
|
|
| Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency |
|
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|
|
| Assessing epidemiological evidence for the teratogenic effects of anticonvulsant medications |
|
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|
|
| CTLA-4/CD28 gene region is associated with genetic susceptibility to coeliac disease in UK families |
|
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|
| Preimplantation genetic diagnosis in clinical practice |
|
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|
| Partial trisomy 9p12p21.3 with a normal phenotype |
|
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|
|
| The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation |
|
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|
|
| Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects |
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|
|
| Association between markers in chromosomal region 17q23 and young onset hypertension: a TDT study |
|
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|
|
| Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome |
|
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|
|
| Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome |
|
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|
| Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome |
|
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|
| A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA |
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|
|
| Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation |
|
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|
|
| Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints |
|
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|
|
| Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation |
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|
| Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth |
|
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|
| Identification of mutations in the gene encoding sterol regulatory element binding protein (SREBP)-2 in hypercholesterolaemic subjects |
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| TNF2 turns up in non-ischaemic heart failure |
|
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|
|
| Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation |
|
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|
|
| The teratogenicity of anticonvulsant drugs: a progress report |
|
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| Genes predict outcome in multiple sclerosis |
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|
| New mutations in hereditary pancreatitis |
|
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|
|
| HLA-DR4 and risk of spondyloarthropathy |
|
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|
|
| Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes |
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| Close relatives: distant relations |
|
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|
| Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP |
|
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|
|
| Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss |
|
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|
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|
|
| Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11->q11:)/46,XX karyotype |
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|
| Risk assessment and management of high risk familial breast cancer |
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| Transient neonatal diabetes, a disorder of imprinting |
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|
|
| Thrombocytopenia-absent radius syndrome: a clinical genetic study |
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|
| Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy |
|
|
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|
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|
|
| Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype |
|
|
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| Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination |
|
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|
|
| Unlinked genes influence severity of FAP within families |
|
|
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|
|
|
|
|
| Clinical and genetic studies of Birt-Hogg-Dube syndrome |
|
|
|
|
|
|
|
|
|
| SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family |
|
|
✓ |
|
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|
|
| Evolution and expression of FOXL2 |
|
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|
| Longevity in Schimke immuno-osseous dysplasia |
|
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|
| Relationship between clinical and genetic diagnosis of Prader-Willi syndrome |
|
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|
|
| Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature |
|
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|
|
| Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia |
|
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|
|
| Germline mutation of the tumour suppressor PTEN in Proteus syndrome |
|
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|
| Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome |
|
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|
| Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype |
|
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|
| Behavioural phenotype of Bardet-Biedl syndrome |
|
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|
| Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree |
|
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| PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex |
|
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| Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation |
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| A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on pheno |
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| Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies |
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| Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNASer(UCN) gene |
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| Correlation between a specific Wilms tumour suppressor gene (WT1) mutation and the histological findings in Wilms tumour (WT) |
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| Comparison of genetic services with and without genetic registers: knowledge, adjustment, and attitudes about genetic counselling among probands referred to three genetic clinics |
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| Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patients |
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| Screening for microsatellite instability target genes in colorectal cancers |
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| High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH) |
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| De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models |
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| Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD |
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| Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene |
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| Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families |
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| Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles |
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| Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study |
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| Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation |
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| Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjogren syndrome |
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| Promoter polymorphisms in the CD14 receptor gene and their potential association with the severity of chronic periodontitis |
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| Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib |
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| Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13 |
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| Behavioural complaints in participants who underwent predictive testing for Huntington's disease |
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| Your Genetic Destiny: Know Your Genes, Secure your Health, Save Your Life: Aubrey Milunsky. Oxford: Perseus Publishing. 2001. ISDN 0738203777. |
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| Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically? |
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| Continuous medical education approaches for clinical genetics: a postal survey of general practitioners |
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| No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD) |
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| Monozygotic twins with chromosome 22q11 deletion and discordant phenotypes: updates with an epigenetic hypothesis |
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| Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients |
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| CYS127S (FH-Kairouan) and D245N (FH-Tozeur) mutations in the LDL receptor gene in Tunisian families with familial hypercholesterolaemia |
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✓ |
|
Tunisian families |
| Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss |
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| Mosaicism for duplication 12q (12q13->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant |
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| Coffin-Lowry syndrome: clinical and molecular features |
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| Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 |
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| Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation |
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| Variant of endothelial nitric oxide synthase gene determines severity of atherosclerosis |
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| Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy |
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| "Molecular rulers" for calibrating phenotypic effects of telomere imbalance |
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| Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience |
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| Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer |
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| Constitutional alterations of the ATM gene in early onset sporadic breast cancer |
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| A novel aberrant splice site mutation in the APC gene |
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| Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood |
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| Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis |
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| Streptococcal infection distinguishes different types of psoriasis |
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| 8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation? |
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| Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence? |
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| Education improves general practitioner (GP) management of familial breast/ovarian cancer: findings from a cluster randomised controlled trial |
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| The Century of Mendelism: Editors Robert A Peel, John Timson. London: The Galton Institute. 2000. ISBN 0 950 40666 X. |
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| Myotonic Dystrophy: 3rd ed. Major Problems in Neurology Series. Peter S Harper. (pound55.00.) London: Harcourt. 2001. ISBN 0 7020 21520 |
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| Oxford Medical Databases: London Dysmorphology Database Version 3.0. London Neurogenetics Database Version 3.0. Dysmorphology Photo Library on CD-ROM Version 3.0: R M Winter, M Baraitser. (CD, pound15 |
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| Fragile X Syndrome - Diagnosis, Treatment and Research: Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. pound65.50 HB, pound31.00 PB. Baltimore: The Johns Hopkins University Press. 200 |
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| Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause |
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| Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly |
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| A rare case of a de novo dup(19q) associated with a mild phenotype |
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| A novel atypical 22q11.2 distal deletion in father and son |
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| Cytogenetic analysis of spermatozoa from males aged between 47 and 71 years |
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| SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation |
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| Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States |
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| Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa |
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| Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene |
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| APC gene mutation does not predict duodenal cancer |
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| Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease |
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| Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice |
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| A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer |
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| Counseling About Cancer: Strategies for Genetic Counseling: 2nd edition. Katherine A Schneider. (Pp 333; $39.95.) New York: Wiley-Liss. 2002. ISDN 0-471-37036-3. |
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| FOXL2 mutation screening in a large panel of POF patients and XX males |
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|
| A necropsy case of Denys-Drash syndrome with a WT1 mutation in exon 7 |
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| Cardiovascular manifestations in 75 patients with Williams syndrome |
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| MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution |
|
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| The phenotype of survivors of campomelic dysplasia |
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| UGT1A7 and colorectal cancer susceptibility |
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| Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families |
|
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|
| A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes |
|
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|
| Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1 |
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|
| Spastin gene mutation in Japanese with hereditary spastic paraplegia |
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✓ |
|
Japanese |
| Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome |
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|
| Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype |
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| Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts |
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| Coeliac disease in twins |
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| A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter |
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| PTPN11 mutations in LEOPARD syndrome |
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| Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome |
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|
| Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement |
|
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| Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome |
|
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| Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience |
|
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| Dysosteosclerosis: a report of three new cases and evolution of the radiological findings |
|
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| Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child |
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| Hereditary paraganglioma targets diverse paraganglia |
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| Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes |
|
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|
| Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene |
|
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|
| Identification of candidate lung cancer susceptibility genes in mouse using oligonucleotide arrays |
|
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|
| Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2) |
|
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| Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule |
|
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|
| Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis |
|
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|
| Expression of wild type and mutant TSC2, but not TSC1, causes an increase in the G1 fraction of the cell cycle in HEK293 cells |
|
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| Mutation in KCNQ1 that has both recessive and dominant characteristics |
|
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|
| Heterozygous truncating mutation in the human homeobox gene GSH2 has no discernable phenotypic effect |
|
|
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|
| Genetic counselling for familial breast and ovarian cancer in Ontario |
|
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| The use of audiotapes in consultations with women from high risk breast cancer families: a randomised trial |
|
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|
| Parental attitude towards genetic testing for familial hypercholesterolaemia in children |
|
|
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|
| Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome |
|
|
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|
|
|
|
|
| Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect |
|
|
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|
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|
|
|
| The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels |
|
|
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|
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|
|
| Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population |
|
|
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|
|
| Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance |
|
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|
|
| Coping style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer |
|
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| Correction |
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| Transmission of an unbalanced (Y;1) translocation in Brittany, France |
|
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|
| Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies |
|
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|
| Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers |
|
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|
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|
|
| Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease |
|
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|
|
| Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain |
|
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|
| Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX) |
|
|
|
|
|
|
|
|
|
| Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort study |
|
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|
|
| A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58 |
|
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|
|
| Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada |
|
|
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|
|
| Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3 |
|
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|
|
| Association of an interleukin 1B gene polymorphism (-511) with Parkinson's disease in Finnish patients |
|
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|
|
| What do women really want to know? Motives for attending familial breast cancer clinics |
|
|
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|
| The effect of a single BRCA2 mutation on cancer in Iceland |
|
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|
|
| Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers |
|
|
|
|
|
|
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|
|
| Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia |
|
|
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|
|
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|
|
| The p63 gene in EEC and other syndromes |
|
|
|
|
|
|
|
|
|
| A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation |
|
|
|
|
|
|
|
|
|
| Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency? |
|
|
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|
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|
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|
|
| A new case of Yq microdeletion transmitted from a normal father to two infertile sons |
|
|
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|
|
|
|
|
|
| Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion |
|
|
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|
|
|
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|
|
| Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the prot |
|
|
|
|
|
|
|
|
|
| Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene |
|
|
|
|
|
|
|
|
|
| Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene |
|
|
|
|
|
|
|
|
|
| Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome |
|
|
|
|
|
|
|
|
|
| Mutation screening of the PKD1 transcript by RT-PCR |
|
|
|
|
|
|
|
|
|
| Emery and Rimoin's Principles and Practice of Medical Genetics: 4th edition. Editors D L Rimoin, J M Connor, R E Pyeritz, B R Korf. (Pp 4936; pound350.00.) Edinburgh: Churchill-Livingstone. 2002. ISBN |
|
|
|
|
|
|
|
|
|
| Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 |
|
|
|
|
|
|
|
|
|
| From errant enzymes to colon cancers |
|
|
|
|
|
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|
|
| Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 |
|
|
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|
|
|
|
|
|
| MICA-A5.1 weighs in with HLA-DR3/DQ2 in coeliac disease |
|
|
|
|
|
|
|
|
|
| Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies |
|
|
|
|
|
|
|
|
|
| Genetics for Cardiologists: The Molecular Genetic Basis of Cardiovascular Disorders: Ali J Marian. London: ReMedica Publishing. 2001. ISBN 1 901346 09 9. |
|
|
|
|
|
|
|
|
|
| Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss |
|
|
|
|
|
|
|
|
|
| Catalog of Teratogenic Agents: 10th edition. Thomas H Shepard. Baltimore: The Johns Hopkins University Press. 2001. ISBN 0-8018-6722-3. |
|
|
|
|
|
|
|
|
|
| Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter |
|
|
|
|
|
|
|
|
|
| Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families |
|
|
|
|
|
|
|
|
|
| Concerns of women presenting to a comprehensive cancer centre for genetic cancer risk assessment |
|
|
|
|
|
|
|
|
|
| Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia |
|
|
|
|
|
|
|
|
|
| Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families |
|
|
|
|
|
|
|
|
|
| Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration |
|
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