| The 27Glu polymorphism of the β<sub>2</sub>‐adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects |
|
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|
|
|
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|
|
| MURCS association with duplicated thumb |
|
|
|
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|
|
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|
|
| Interpreting three new and unique <i>BRCA1</i> mutations in an Ashkenazi Jewish patient |
|
|
|
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|
|
✓ |
|
Ashkenazi Jewish |
| Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients |
|
|
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|
|
|
|
|
|
| A patient homozygous for the <i>SCA6</i> gene with retinitis pigmentosa |
|
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|
|
| Hotspots |
|
|
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|
|
|
| Errata |
|
|
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|
|
| Hotspots |
|
|
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|
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|
|
| Hotspots |
|
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|
|
| Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features |
|
|
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|
|
| High prevalence of I179S mutation in patients with late‐onset metachromatic leukodystrophy |
|
|
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|
|
| Man and mouse: A comparison between two genomes |
|
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|
|
|
| Schizophrenia genetics |
|
|
|
|
|
|
|
|
|
| Inducible nitric oxide synthase gene and diabetic retinopathy in Asian Indian patients |
|
|
|
|
|
|
✓ |
✓ |
Asian Indian population; Northern Irish population |
| Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) |
|
|
|
|
|
|
|
|
|
| Non‐syndromic autosomal‐dominant deafness |
|
|
|
|
|
|
|
|
|
| A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco |
|
|
|
|
|
|
|
|
|
| Keeping an eye on splicing; A FOX speaks; An aneuploidy surprise |
|
|
|
|
|
|
|
|
|
| A familial cryptic subtelomeric deletion 12p with variable phenotypic effect |
|
|
|
|
|
|
|
|
|
| Mutation in the <i>FGFR2</i> gene in a Taiwanese patient with Beare–Stevenson cutis gyrata syndrome |
|
|
|
|
|
|
|
|
|
| Setting sights on inherited retinal disease |
|
|
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|
|
|
| Type III hyperlipoproteinema with apolipoprotein E2/2 genotype in Japan |
|
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|
|
| Esophageal and duodenal atresia in a girl with a 12q24.3‐qter deletion |
|
|
|
|
|
|
|
|
|
| Living with Marfan syndrome III. Quality of life and reproductive planning |
|
|
|
|
|
|
|
|
|
| Haplotype analysis of a <i>BRCA1</i>: 185delAG mutation in a Chilean family supports its Ashkenazi origins |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jewish; Jewish; non‑Jewish Chilean; Chilean |
| Apolipoprotein molecular variation in Moroccan Berbers: pentanucleotide (TTTTA)n repeat in the LPA gene and APOE‐C1‐C2 gene cluster |
|
|
|
|
|
✓ |
✓ |
✓ |
Europeans; Sub‐Saharans; Berbers; Mediterraneans; European pattern; Sub‐Saharan influence |
| A 4‐Mb critical region for intrauterine growth retardation at 15q26 |
|
|
|
|
|
|
|
|
|
| Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences |
|
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|
|
|
|
| X‐linked recessive Menkes disease: identification of partial gene deletions in affected males |
|
|
|
|
|
|
|
|
|
| <i>FOXC2</i> truncating mutation in distichiasis, lymphedema, and cleft palate |
|
|
|
|
|
|
|
|
|
| Fertility and pregnancy outcome in Danish women with Turner syndrome |
|
|
|
|
|
|
|
|
|
| Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain) |
|
|
|
|
|
|
✓ |
✓ |
"ethnic groups"; "populations" (populations of the Balearic Islands); "descendants of Majorcan Jews |
| Molecular cytogenetic analysis of a Xp21.3‐pter deletion in a family with normal and short stature |
|
|
|
|
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|
|
| Gene/environment causes of cleft lip and/or palate |
|
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|
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| Inherited disorders of cholesterol biosynthesis |
|
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|
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| Endothelial nitric oxide synthase gene polymorphisms in Fabry's disease |
|
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|
|
| Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome) |
|
|
|
|
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|
|
| Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia |
|
|
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|
|
| The TaqIB and −629C>A polymorphisms at the cholesteryl ester transfer protein locus: associations with lipid levels in a multiethnic population. The 1998 Singapore National Health Survey |
|
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|
|
| <i>De novo</i> supernumerary ring chromosome 7: first report of a non‐mosaic patient and review of the literature |
|
|
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|
|
|
|
| A 4q21‐q22 deletion in a girl with severe growth retardation |
|
|
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|
|
|
|
|
|
| IL‐4 receptor alpha chain genetic polymorphism and total IgE levels in the English population: two‐locus haplotypes are more informative than individual SNPs |
|
|
|
|
|
|
✓ |
✓ |
English population (Oxford district) |
| Two more genes involved in recental retardation in an ever x‐panding repertoire of proteins and pathways |
|
|
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|
|
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|
|
| Family issues in a psychoeducation group for women with a <i>BRCA</i> mutation |
|
|
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|
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|
|
| Developing a quality scoring system for epidemiological surveys of genetic disorders |
|
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|
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| Autosomal spots that mark the ‘X’ |
|
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|
|
| Hair as a diagnostic tool in dysmorphology |
|
|
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|
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|
|
| Genetic heterogeneity in Malattia Leventinese |
|
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|
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|
|
| Sib‐pairs in multifactorial disorders: the sib‐similarity problem |
|
|
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|
|
| A novel point mutation of the androgen receptor (F804L) in an Egyptian newborn with complete androgen insensitivity associated with congenital glaucoma and hypertrophic pyloric stenosis |
|
|
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|
|
|
|
|
| Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC |
|
|
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|
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|
|
|
|
| A case of <i>de novo</i> distal duplication of chromosome 15 |
|
|
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|
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|
|
| A prospective evaluation of the angiotensin‐converting enzyme <i>D/I</i> polymorphism and left ventricular remodeling in the ‘Healing and Early Afterload Reducing Therapy’ Study |
|
|
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|
|
|
|
|
|
| Telomere‐specific fluorescence <i>in situ</i> hybridization analysis of couples with five or more recurrent miscarriages |
|
|
|
|
|
|
|
|
|
| Effects of apolipoprotein A‐IV genotype on glucose and plasma lipoprotein levels |
|
|
|
|
|
|
|
|
|
| Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss |
|
|
|
|
|
|
✓ |
✓ |
Ashkenazi Jews; Japanese individuals; Philippine ancestry; Chinese and Cambodian background; Chinese |
| Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large‐scale mitochondrial DNA deletion |
|
|
|
|
|
|
|
|
|
| Interdependent effect of angiotensin‐converting enzyme and platelet‐activating factor acetylhydrolase gene polymorphisms on the progression of immunoglobulin A nephropathy |
|
|
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|
|
|
|
|
| Anticipation in hereditary breast cancer |
|
|
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|
|
|
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|
|
| Normal levels of soluble transferrin receptor in Friedreich ataxia |
|
|
|
|
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|
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|
|
| Familial hypocalciuric hypercalcaemia in a large family with neurofibromatosis 1 |
|
|
|
|
|
|
|
|
|
| Association of angiotensin‐converting‐enzyme gene polymorphism with the depressor response to mild exercise therapy in patients with mild to moderate essential hypertension |
|
|
|
|
|
|
|
|
|
| Pathogenesis of hereditary tumors: beyond the “two‐hit” hypothesis |
|
|
|
|
|
|
|
|
|
| Tetraploidy in a 26‐month‐old girl (cytogenetic and molecular studies) |
|
|
|
|
|
|
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|
|
| Genetic control of caudal development |
|
|
|
|
|
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|
|
|
| History of genetics through philately: Sir William Osler (1849–1919) and the Osler–Weber–Rendu syndrome |
|
|
|
|
|
|
|
|
|
| An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease |
|
|
|
|
|
|
✓ |
✓ |
Finnish population; French-Canadian patients; patient's ethnic origin |
| Towards an understanding of the molecular pathogenesis of autosomal‐recessive polycystic kidney disease (ARPKD): identification of a novel protein, fibrocystin |
|
|
|
|
|
|
|
|
|
| Influence of the angiotensin‐converting enzyme gene insertion/deletion polymorphism on lipoprotein/lipid response to gemfibrozil |
|
|
|
|
|
|
|
|
|
| A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of <i>CYP27</i> |
|
|
|
|
|
|
|
|
|
| <i>ABCA1</i> regulatory variants influence coronary artery disease independent of effects on plasma lipid levels |
|
|
|
|
|
|
|
|
|
| A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians |
|
|
|
|
|
|
✓ |
✓ |
Asian Indians |
| Identification of a dup(5)(p15.3) by multicolor banding |
|
|
|
|
|
|
|
|
|
| HotSpots |
|
|
|
|
|
|
|
|
|
| Spinal muscular atrophy in black South Africans: concordance with the universal SMN1 genotype |
|
|
|
|
|
|
|
|
|
| Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease |
|
|
|
|
|
✓ |
|
|
European and American populations; Western population |
| A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval |
|
|
|
|
|
|
|
|
|
| Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients |
|
|
|
|
|
|
|
|
|
| ‘Severe’ Prader–Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation |
|
|
|
|
|
|
|
|
|
| Genetic Services |
|
|
|
|
|
|
|
|
|
| Autosomal dominant isolated velopharyngeal insufficiency |
|
|
|
|
|
|
|
|
|
| Reproductive decisions of parents of children with metabolic disorders |
|
|
|
|
|
|
|
|
|
| HotSpots |
|
|
|
|
|
|
|
|
|
| Evaluation of the needs of spouses of female carriers of mutations in <i>BRCA1</i> and <i>BRCA2</i> |
|
|
|
|
|
|
|
|
|
| Polymorphisms at the <i>SRBI</i> locus are associated with lipoprotein levels in subjects with heterozygous familial hypercholesterolemia |
|
|
|
|
|
|
|
|
|
| Exclusion of candidate gene loci for adult onset primary open‐angle glaucoma in a genetically isolated population |
|
|
|
|
|
|
|
|
|
| Homozygosity in Huntington's disease: new ethical dilemma caused by molecular diagnosis |
|
|
|
|
|
|
|
|
|
| Apolipoprotein E gene polymorphism in cerebrovascular disease: a case–controlstudy |
|
|
|
|
|
|
✓ |
✓ |
Asian Indians |
| 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family |
|
|
|
|
|
|
✓ |
✓ |
Slav populations; Turkish population |
| Supernumerary marker chromosomes derived from chromosome 15: analysis of 32 new cases |
|
|
|
|
|
|
|
|
|
| Homologous telomere association of 19q in a female with premature ovarian failure |
|
|
|
|
|
|
|
|
|
| Genetic landmarks through philately: Luís Morquio 1867–1935 |
|
|
|
|
|
|
|
|
|
| Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH |
|
|
|
|
|
|
|
|
|
| Genetic technologies, health care policy and the patent bargain |
|
|
|
|
|
|
|
|
|
| A previously undescribed nonsense mutation of the <i>HFE</i> gene |
|
|
|
|
|
|
|
|
|
| Effects of apolipoprotein A‐I genetic variations on plasma apolipoprotein, serum lipoprotein and glucose levels |
|
✓ |
|
|
|
|
|
|
|
| The relationship between plasma t‐PA and PAI‐1 levels is dependent on epistatic effects of the<i>ACE I/D</i>and<i>PAI‐1 4G/5G</i>polymorphisms |
|
✓ |
|
|
|
|
✓ |
✓ |
African Americans |
| Increased sensitivity to 4‐chloro‐m‐cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation |
|
|
|
|
|
|
|
|
|
| Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients |
|
|
|
|
|
|
|
|
|
| A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS |
|
|
|
|
|
|
|
|
|
| Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene |
|
|
|
|
|
|
|
|
|
| The novel R75Q mutation in the <i>GJB2</i> gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family |
|
|
|
|
|
|
|
|
|
| A new case of dup(3q) syndrome due to a pure duplication of 3qter |
|
|
|
|
|
|
|
|
|
| Involvement of a palindromic chromosome 22‐specific low‐copy repeat in a constitutional t(X; 22)(q27;q11) |
|
|
|
|
|
|
|
|
|
| X‐linked mental retardation: vanishing boundaries between non‐specific (MRX) and syndromic (MRXS) forms |
|
|
|
|
|
|
|
|
|
| Standardization of PCR amplification for fragile X trinucleotide repeat measurements* |
|
|
|
|
|
|
|
|
|
| Association of a polymorphism of the ecNOS gene with myocardial infarction in a subgroup of Turkish MI patients |
|
|
|
|
|
|
|
|
|
| Communicating a new gene vital for speech and language |
|
|
|
|
|
|
|
|
|
| Complete screening of the <i>CFTR</i> gene in Argentine cystic fibrosis patients |
|
|
|
|
|
|
✓ |
✓ |
heterogeneous ethnic origin of the Argentine population |
| Familial adenomatous polyposis in two Black South African families |
|
|
|
|
|
|
✓ |
✓ |
Black; indigenous Black; African population; Xhosa; Zulu |
| Cardiomyopathy in congenital complete lipodystrophy |
|
|
|
|
|
|
|
|
|
| Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system |
|
|
|
|
|
|
|
|
|
| X‐linked recessive Menkes disease: carrier detection in the case of a partial gene deletion |
|
|
|
|
|
|
|
|
|
| The association of cholesteryl ester transfer protein polymorphism with high‐density lipoprotein cholesterol and coronary artery disease in Koreans |
|
|
|
|
|
|
✓ |
✓ |
Koreans; other ethnic groups |
| Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method |
|
|
|
|
|
|
|
|
|
| HotSpots |
|
|
|
|
|
|
|
|
|
| Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel <i>APOB</i> splice site mutation |
|
|
|
|
|
|
|
|
|
| A CGH study of 27 patients with CHARGE association |
|
|
|
|
|
|
|
|
|
| <i>RMRP</i> gene sequence analysis confirms a cartilage‐hair hypoplasia variant with only skeletal manifestations and reveals a high density of single‐nucleotide polymorphisms |
|
|
|
|
|
|
✓ |
✓ |
Finnish |
| A patient with treatment‐resistant schizophrenia and cytochrome P4502D6 gene duplication |
|
|
|
|
|
|
|
|
|
| Re‐engineering dystrophin for gene therapy of Duchenne muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Genetic landmarks through philately: Woodrow Wilson ‘Woody’ Guthrie and Huntington disease |
|
|
|
|
|
|
|
|
|
| LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia |
|
|
|
|
|
|
|
|
|
| Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example |
|
|
|
|
|
|
|
|
|
| Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21‐hydroxylase deficiency) in the |
|
|
|
|
|
|
✓ |
✓ |
Spanish population |
| Genotyping of Israeli infertile men with idiopathic oligozoospermia |
|
|
|
|
|
|
|
|
|
| Genetic polymorphisms of the apolipoprotein A‐IV in a Greek population and their relation to plasma lipid and lipoprotein levels |
|
|
|
|
|
|
✓ |
✓ |
Greek population |
| Losing your inhibitions: a mutation in the α1 subunit of the GABA<sub>A</sub> receptor causes autosomal dominant juvenille myoclonic epilepsy |
|
|
|
|
|
|
|
|
|
| The A1555G mtDNA mutation in Danish hearing‐impaired patients: frequency and clinical signs |
|
|
|
|
|
|
✓ |
✓ |
Spanish; Asian; Danish |
| Diabetic flies? Using <i>Drosophila melanogaster</i> to understand the causes of monogenic and genetically complex diseases |
|
|
|
|
|
|
|
|
|
| An unstable dicentric Robertsonian translocation in a markedly discordant twin |
|
|
|
|
|
|
|
|
|
| SCA8 in the Spanish population including one homozygous patient |
|
|
|
|
|
|
✓ |
✓ |
Spanish population |
| Genetic origins in a South American clefting population |
|
✓ |
|
|
|
|
✓ |
✓ |
Amerindian; Native American; African; Spanish and Portuguese |
| Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late‐replicating dupX chromosome |
|
|
|
|
|
|
|
|
|
| The complexities of ocular genetics |
|
|
|
|
|
|
|
|
|
| Genetics of population isolates |
|
|
|
|
|
|
|
|
|
| Novel neuropeptide Y1 and Y5 receptor gene variants: associations with serum triglyceride and high‐density lipoprotein cholesterol levels |
|
|
|
|
|
|
|
|
|
| ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans |
|
|
|
|
|
|
|
|
|
| A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi–Bickel syndrome |
|
|
|
|
|
|
|
|
|
| Pharmacogenomics: the future of drug therapy |
|
|
|
|
|
|
|
|
|
| Germline mutations in the <i>PTEN</i> gene in Israeli patients with Bannayan–Riley–Ruvalcaba syndrome and women with familial breast cancer |
|
|
|
|
|
|
|
|
|
| Enteroviruses prefer the dystrophin‐deficient heart |
|
|
|
|
|
|
|
|
|
| Frequency of the thermolabile variant C677T in the MTHFR gene and lack of association with neural tube defects in the State of Yucatan, Mexico |
|
|
|
|
|
|
|
|
|
| Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males |
|
|
|
|
|
|
|
|
|
| Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease |
|
|
|
|
|
|
|
|
|
| Mutations in the X‐linked spondyloepiphyseal dysplasia tarda (SEDL) coding sequence are not a common cause of early primary osteoarthritis in men |
|
|
|
|
|
|
|
|
|
| Epigenetic contributors to the discordance of monozygotic twins |
|
|
|
|
|
|
|
|
|
| α1‐Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G→A transition in position +1 of intron IC affecting normal mRNA splicing |
|
|
|
|
|
|
|
|
|
| Lack of association between methylenetetrahydrofolate reductase (MTHFR) C677T and ischaemic heart disease (IHD): family‐based association study in a Spanish population |
|
|
|
|
|
|
✓ |
✓ |
Spanish population |
| Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia |
|
|
|
|
|
|
|
|
|
| Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians |
|
|
|
|
|
|
|
|
|
| Down with mutant <i>GATA1</i> |
|
|
|
|
|
|
|
|
|
| The effect of six polymorphisms in the Apolipoprotein B gene on parameters of lipid metabolism in a Danish population |
|
|
|
|
|
|
|
|
|
| An exonic mutation of the GH‐1 gene causing familial isolated growth hormone deficiency type II |
|
|
|
|
|
|
|
|
|
| <i>DGAT1</i> promoter polymorphism associated with alterations in body mass index, high density lipoprotein levels and blood pressure in Turkish women |
|
|
|
|
|
|
✓ |
✓ |
Turkish |
| Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz–Jeghers syndrome patients |
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| PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype |
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| Hotspots |
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| The E326K mutation and Gaucher disease: mutation or polymorphism? |
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| Participation rates of Ashkenazi Jews in a colon cancer community‐based screening/prevention study |
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✓ |
✓ |
Ashkenazi Jews |
| Cognitive function in Coffin–Lowry syndrome |
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✓ |
✓ |
African‐American |
| Development and diseases of the pancreas |
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| A comparison of combinatorial partitioning and linear regression for the detection of epistatic effects of the<i>ACE I/D</i>and<i>PAI‐1 4G/5G</i>polymorphisms on plasma PAI‐1 levels |
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✓ |
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✓ |
✓ |
African Americans |
| Sibship stability of genotype and phenotype in myotonic dystrophy |
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| Comparison of two different protocols of neonatal screening for cystic fibrosis |
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| Hereditary motor neuron disease caused by mutations in the ALS2 gene: ‘The long and the short of it’ |
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| Analysis of the two common alpha‐1‐antitrypsin deficiency alleles PiMS and PiMZ as modifiers of <i>Pseudomonas aeruginosa</i> susceptibility in cystic fibrosis |
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| Modeling classic female Rett Syndrome in male mice |
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| HIP1 as a marker of aggressive prostate cancer |
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| The changing survival profile of people with Down's syndrome: implications for genetic counselling |
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| Association between G<sup>−308</sup>A polymorphism of the tumor necrosis factor‐α gene and 24‐hour ambulatory blood pressure values in type 1 diabetic adolescents |
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✓ |
✓ |
Hungarian reference population |
| Prevalence and ethnic differences of autosomal‐dominant cerebellar ataxia in Singapore |
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✓ |
✓ |
ethnic Malay; ethnic Indian; ethnic Chinese; Malay race; ancestry of Singaporeans; ethnic difference |
| Non‐syndromic X‐linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene |
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| Two novel mutations in the sterol 27‐hydroxylase gene causing cerebrotendinous xanthomatosis |
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| At last – atlastin provides new insight into spastic paraplegia |
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| Presence of the d8/17 B‐cell marker in children with rheumatic fever in Israel |
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| Facial clefting in an Arab town in Israel |
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| How many phenotypes in the DTDST family chondrodysplasias? |
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| Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion |
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| Diploid/triploid mosaicism in dysmorphic patients |
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| A predominant increase in the APC gene isoform with exon 9a in a case of attenuated familial adenomatous polyposis |
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| Errata |
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| CALL FOR ABSTRACTS |
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| Erratum |
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| An SEDL gene mutation in a Japanese kindred of X‐linked spondyloepiphyseal dysplasia tarda |
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✓ |
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Japanese |
| New mutations in the <i>CBFA1</i> gene in two Mexican patients with cleidocranial dysplasia |
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✓ |
✓ |
Mexican |
| Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome |
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| Early development of megarectum in myotonic dystrophy |
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| Inherited hypertrichoses |
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| <i>De novo MECP2</i> frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia |
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| Angiotensinogen genotype, plasma protein and mRNA concentration in isolated systolic hypertension |
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| Familial pericentric inversion of chromosome 4: inv(4)(p16.1q12) |
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| Developmental Genome Anatomy Project (DGAP) |
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| Erratum |
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| Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic‐like syndrome? |
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| Apolipoprotein AI promoter variant in blood pressure determination |
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| Attention‐deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees |
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| Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome |
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✓ |
✓ |
Arabic‐Muslim |
| <i>MECP2</i> mutations in Swedish Rett syndrome clusters |
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