| Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis |
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| "Alfred Russel Wallace. A Life" (Peter Raby, Pimlico (Random House), ISBN 0-7126-6577-3, softcover, £12.50) / "In Darwin's shadow. The Life and Science of Alfred Russel Wallace" (Michael Shermer, Oxfo |
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| Acknowledgement to referees 2002 |
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| Several interacting genes influence the malignant hyperthermia phenotype |
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| C.W.R.J. Cremers, R.J.H. Smith (eds): Genetic hearing impairment—it's clinical presentations. Advances in Oto-Rhino-Laryngology, Vol 61 (Series ed: W. Arnold) |
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| Mutation analysis of the coding sequence of the MECP2 gene in infantile autism |
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| European Academy of Andrology (EAA) International Symposium |
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| Cis-acting variation in the expression of a high proportion of genes in human brain |
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| Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18 |
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| Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease |
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| Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian famil |
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| Examination of sequence homology between human chromosome 20 and the mouse genome: intense conservation of many genomic elements |
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| Recent Literature |
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| Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation |
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| Bone dysplasias: an atlas of genetic disorders of skeletal development, 2nd edition |
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| Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype |
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| Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer |
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| Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations |
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| Helen M. Kingston: ABC of Clinical Genetics (3rd edn) |
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| Relation of risk of systemic lupus erythematosus to west African admixture in a Caribbean population |
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west African admixture |
| Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia |
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| Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family |
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| Founder effect of the C9 R95X mutation in Orientals |
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Orientals |
| Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt |
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| Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin |
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| Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients |
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| The future of association studies of common cancers |
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| Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35 |
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| High level of male-biased Scandinavian admixture in Greenlandic Inuit shown by Y-chromosomal analysis |
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✓ |
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Scandinavian admixture; Greenlandic Inuit |
| No evidence of fetal DNA persistence in maternal plasma after pregnancy |
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| Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC |
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| Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1) |
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| Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family |
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| Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity |
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| Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome |
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| Biallelic expression of HRAS and MUCDHL in human and mouse |
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| Linkage and association mapping of the LRP5 locus on chromosome 11q13 in type 1 diabetes |
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| Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply |
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| Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin |
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| Finnish Disease Heritage I: |
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| A study of cryptic terminal chromosome rearrangements in recurrent miscarriage couples detects unsuspected acrocentric pericentromeric abnormalities |
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| GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation |
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| Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol |
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| Genome-wide targeted search for human specific and polymorphic L1 integrations |
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| The interleukin-6 (−174) G/C promoter polymorphism is associated with type-2 diabetes mellitus in Native Americans and Caucasians |
✓ |
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✓ |
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Native Americans |
| G. Evers-Kiebooms, M.W. Zoeteweij, P.S. Harper (eds): Prenatal testing for late onset neurogenetic diseases |
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| Methods in molecular biology, vol 204. Molecular cytogenetics: protocols and applications |
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| The Finnish disease heritage III: the individual diseases |
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| ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore |
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| Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II |
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| David J. Galas, Stephen J. McCormack (eds): Genomic Technologies — Present and Future. Functional Genomics Series, Vol 1 (Series ed: Milton H. Saier Jr) |
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| Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes |
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| Frederick Burkhardt, Duncan M. Porter, Sheila Ann Dean, Jonathan R. Topham, Sarah Wilmot (eds): The Correspondence of Charles Darwin 1864 (Vol. 12) |
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| Structural and molecular basis of skeletal muscle diseases |
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| The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain |
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| Skin pigmentation, biogeographical ancestry and admixture mapping |
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| Genetic demography of Antioquia (Colombia) and the Central Valley of Costa Rica |
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| The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate |
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| PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse |
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| Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter |
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| Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient |
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| Polymorphisms in the MLL breakpoint cluster region (BCR) |
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| Variation in the FABP2 promoter alters transcriptional activity and is associated with body composition and plasma lipid levels |
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| Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese |
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| SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity |
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| Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype |
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| Arrangement of chromosome 11 and 22 territories, EWSR1 and FLI1 genes, and other genetic elements of these chromosomes in human lymphocytes and Ewing sarcoma cells |
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| Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P |
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| Finnish Disease Heritage II: population prehistory and genetic roots of Finns |
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| An Alu-mediated rearrangement as cause of exon skipping in Hunter disease |
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| Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH) |
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| Linkage analysis of prostate cancer susceptibility: confirmation of linkage at 8p22–23 |
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| A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21 |
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| Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics |
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| Evidence for asthma susceptibility genes on chromosome 11 in an African-American population |
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| Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy |
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| Assessment of the CTNNA3 gene encoding human αT-catenin regarding its involvement in dilated cardiomyopathy |
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| A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma |
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| Randomly distributed crossovers may generate block-like patterns of linkage disequilibrium: an act of genetic drift |
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| Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder |
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| A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis |
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| Common 5′ β-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism |
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| Mutational analysis in longest known survivor of mucopolysaccharidosis type VII |
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| Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type |
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| Nucleotide and haplotypic diversity of the NOS2A promoter region and its relationship to cerebral malaria |
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| Fragile X syndrome: diagnosis, treatment and research |
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| Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families |
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✓ |
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Japanese |
| Notch4, a non-HLA gene in the MHC is strongly associated with the most severe form of alopecia areata |
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| Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia |
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| Genetic analysis of a complex trait in the Utah Genetic Reference Project: a major locus for PTC taste ability on chromosome 7q and a secondary locus on chromosome 16p |
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| Thank you Robert Nussbaum, Welcome Thomas Hudson! |
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| Fetal DNA in maternal serum: does it persist after pregnancy? |
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| Connexin 26 35delG does not represent a mutational hotspot |
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| Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome |
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| Two mismatch repair gene mutations found in a colon cancer patient – which one is pathogenic? |
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| Comparison of strategies for selecting single nucleotide polymorphisms for case/control association studies |
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| Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon |
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| Mutational analysis of the human FATE gene in 144 infertile men |
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| Increased variation in mtDNA in patients with familial sensorineural hearing impairment |
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| Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13 |
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| Lung cancer risk in germline p53 mutation carriers: association between an inherited cancer predisposition, cigarette smoking, and cancer risk |
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| Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein |
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| Altitude is a phenotypic modifier in hereditary paraganglioma type�1: evidence for an oxygen-sensing defect |
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| The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene |
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✓ |
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Japanese |
| Interaction effect of PTEN and CDKN1B chromosomal regions on prostate cancer linkage |
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| Molecular variation at the apolipoprotein�B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis |
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| Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population |
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| Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy |
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| Inherited BRCA2 mutations in African Americans with breast and/or ovarian cancer: a study of familial and early onset cases |
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| A common IL-13 Arg130Gln single nucleotide polymorphism among Chinese atopy patients with allergic rhinitis |
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| Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China |
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| Sex differences in heritability of sensitization to Blomia tropicalis in asthma using regression of offspring on midparent (ROMP) methods |
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| H. Skirton, C. Patch: Genetics for Healthcare Professionals: A lifestyle approach |
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| The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome�2 |
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| Mutations |
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| Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic origin of its first male settlers |
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| Analysis of zinc transporter, hZnT4 ( Slc30A4 ), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk |
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| Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease |
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| Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France |
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| P.J. Morrison, S.V. Hodgson, N.E. Haites (eds): Familial breast cancer: genetics, screening and management |
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| Nicholas T. Potter (editor) Methods in molecular biology, volume�217. Neurogenetics: methods and protocols |
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| Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin |
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| Mutations |
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| Chromosomal phylogeny and evolution of gibbons (Hylobatidae) |
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| Cytometric analysis of cell phenotype and function |
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| Mutations |
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| Surfactant protein�A and B genetic variants predispose to idiopathic pulmonary fibrosis |
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| Y-chromosome lineages in Cabo Verde Islands witness the diverse geographic origin of its first male settlers |
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| Markers informative for ancestry demonstrate consistent megabase-length linkage disequilibrium in the African American population |
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| Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis |
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| Allelic variation at alcohol metabolism genes ( ADH1B , ADH1C , ALDH2 ) and alcohol dependence in an American Indian population |
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| A novel method for automatic genotyping of microsatellite markers based on parametric pattern recognition |
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| Making genes, making waves. A social activist in science |
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| Evaluation of the microsomal glutathione S-transferase 3 ( MGST3 ) locus on 1q23 as a Type 2 diabetes susceptibility gene in Pima Indians |
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✓ |
|
Pima Indians |
| Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12) |
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| Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia�A |
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| Novel mutations in the IRF6 gene for Van der Woude syndrome |
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| De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease |
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| Marion Leboyer, Frank Bellivier (eds): Psychiatric genetics: methods and reviews |
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| Mutations |
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| Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype |
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| Functional analysis of intra-allelic variation at NACP-Rep1 in the ?-synuclein gene |
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| Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population |
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| NF1 exon�7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis�1 patient |
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| Hypervariability of the membrane-associated mucin and cancer marker MUC1 |
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| DNA sequence variation of the human ABO-secretor locus ( FUT2 ) in New Guinean populations: possible early human migration from Africa |
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| Stratification by CARD15 variant genotype in a genome-wide search for inflammatory bowel disease susceptibility loci |
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| Mutations |
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| The origins and genetic structure of three co-resident Chinese Muslim populations: the Salar, Bo'an and Dongxiang |
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| W.I. Cohen, L. Nadel, M.E. Madnick (eds): Down Syndrome: Visions for the 21st Century |
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| Distribution of CGG repeat sizes within the fragile X mental retardation 1 ( FMR1 ) homologue in a non-human primate population |
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| Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children |
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| Evaluation of bidirectional transfer of plasma DNA through placenta |
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| Association of a promoter variant in the inducible cyclooxygenase-2 gene (PTGS2) with type�2 diabetes mellitus in Pima Indians |
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✓ |
|
Pima Indians |
| Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment |
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| On the applicability of a haplotype map to un-assayed populations |
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| Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 |
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| Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias |
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| Localized aggressive periodontitis is linked to human chromosome 1q25 |
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| Members of the CDY family have different expression patterns: CDY1 transcripts have the best correlation with complete spermatogenesis |
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| Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening |
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| Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients |
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| In vivo somatic microsatellite mutations identified in non-malignant human tissue |
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| Susanne Hummel (editor) Ancient DNA typing: methods, strategies and applications |
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| Peter McGuffin, Michael J. Owen, Irving I. Gottesman (editors) Psychiatric genetics and genomics |
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| Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification |
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| Entropy-based SNP selection for genetic association studies |
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| Mitochondrial portraits of the Madeira and A�ores archipelagos witness different genetic pools of its settlers |
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| Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis |
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| Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians |
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| Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans |
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| Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 |
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| Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers |
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| No evidence for DUP25 in patients with panic disorder using a quantitative real-time PCR approach |
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| Stephan Beck, Alexander Olek (eds): The Epigenome: Molecular Hide and Seek |
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| Molecular analysis of congenital central hypoventilation syndrome |
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| Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes |
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| Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter |
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| Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs |
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| Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects |
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| A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29 |
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| Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1 |
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| Ian N.M. Day (ed) Molecular genetic epidemiology: a laboratory perspective |
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| Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions |
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| Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis |
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| Surfactant protein B polymorphism and respiratory distress syndrome in premature twins |
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| Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates |
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| Mitochondrial DNA polymorphisms associated with longevity in a Finnish population |
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| Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata |
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| Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia |
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| Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility |
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| Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism |
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| Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications |
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| Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11 |
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