| Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups |
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| Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands |
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| Extreme skewing of X chromosome inactivation in mothers of homosexual men |
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| Allelic diversity in the TGFB1 regulatory region: characterization of novel functional single nucleotide polymorphisms |
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| Propensity for paternal inheritance of de novo mutations in Alexander disease |
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| Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening |
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| Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees |
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| Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21 |
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| Functional polymorphisms of FGA, encoding α fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population |
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| First steps in antenatal diagnosis, 1956 |
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| Searching for signals of evolutionary selection in 168 genes related to immune function |
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| Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data |
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| Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy |
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| Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants |
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| Towards compendia of negative genetic association studies: an example for Alzheimer disease |
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| CTLA4 is differently associated with autoimmune diseases in the Dutch population |
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| The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12 |
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| Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes |
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| Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes |
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| Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene |
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| Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping |
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| Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci |
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| SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly |
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| Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women |
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| Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q |
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| Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect |
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| Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental reta |
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| Human gene mutations |
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| Generation or birth cohort effect on cancer risk in Li–Fraumeni syndrome |
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| Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders (2005) |
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| Human F7 sequence is split into three deep clades that are related to FVII plasma levels |
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| Variants of the SFTPA1 and SFTPA2 genes and susceptibility to tuberculosis in Ethiopia |
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| Novel human pathological mutations |
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| Linkage methods in human genetics before the computer |
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| Population stratification confounds genetic association studies among Latinos |
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✓ |
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Latinos |
| A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions |
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| Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation |
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| Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations |
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| Novel human pathological mutations |
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| Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33–q27.3 |
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| Ring chromosome 15: characterization by array CGH |
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| Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions |
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| A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3 |
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| Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men |
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| Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation |
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| Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy |
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| Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association |
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| A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region |
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| Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome |
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| The neurobeachin gene spans the common fragile site FRA13A |
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| Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR |
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| Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation |
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| A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency |
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| A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1 |
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| The EPAS1 gene influences the aerobic–anaerobic contribution in elite endurance athletes |
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| Comparison of three methods to estimate genetic ancestry and control for stratification in genetic association studies among admixed populations |
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✓ |
|
genetic ancestry; admixed populations |
| Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference |
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| An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3′ haplotypes could modify circulating levels of mannose-binding lectin |
✓ |
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| Systemic lupus erythematosus susceptibility loci defined by genome scan meta-analysis |
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| Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene |
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| Acyl-CoA: cholesterol acyltransferase-2 gene polymorphisms and their association with plasma lipids and coronary artery disease risks |
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| Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic me |
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| The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis |
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| Allelic imbalance analysis of oral tongue squamous cell carcinoma by high-density single nucleotide polymorphism arrays using whole-genome amplified DNA |
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| Genetic prion disease: the EUROCJD experience |
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| A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population |
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| Geography is a better determinant of human genetic differentiation than ethnicity |
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| Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4 |
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| A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia |
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| A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p |
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| One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls |
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| Comprehensive genetic evaluation of common E-cadherin sequence variants and prostate cancer risk: strong confirmation of functional promoter SNP |
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| Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members |
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✓ |
|
African American |
| Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples |
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| Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1 |
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| A genetic and cultural odyssey. The life and work of L. Luca Cavalli-Sforza (2005). By Linda Stone, Columbia University Press, 248 pages, 40,50 Euro, ISBN 0-231-13396-0 |
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| Interaction between inflammation-related gene polymorphisms and cigarette smoking on the risk of myocardial infarction in the Physician’s Health Study |
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|
| Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population |
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✓ |
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|
European population |
| IL-10 promoter single nucleotide polymorphisms are significantly associated with resistance to leprosy |
|
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|
| Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a ∼0.5-Mb submicroscopic deletion in a patient with mild mental reta |
|
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|
|
|
|
|
|
| A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification |
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| Mortality and cancer incidence in women with extra X chromosomes: a cohort study in Britain |
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| Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions |
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| Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns |
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✓ |
|
Finns |
| Michael Schmid, Indrajit Nanda (eds): Chromosomes Today, Vol 14, Kluwer, 2004, ISBN 1-4020-0091-X, hardcover, £76 |
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| Major histocompatibility complex and alveolar epithelial apoptosis in idiopathic pulmonary fibrosis |
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| DNA Methylation and Replication: Implications for the “Deletion Hotspot” Region of FMR1 |
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| Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis |
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| Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement? |
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| The Indian Genome Variation database (IGVdb): a project overview |
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| Familial aggregation in lone atrial fibrillation |
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| Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD) |
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| Meprin β metalloprotease gene polymorphisms associated with diabetic nephropathy in the Pima Indians |
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| The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay |
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| TDT-association analysis of EKN1 and dyslexia in a Colorado twin cohort |
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| Insights into the mutational history and prevalence of SCA1 in the Indian population through anchored polymorphisms |
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| Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype–phenotype correlation in Indian patients |
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| Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene |
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| Dominantly inherited cutaneous small-vessel lymphocytic vasculitis maps to chromosome 6q26–q27 |
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| Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis |
|
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| Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis |
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| William Bateson, human genetics and medicine |
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| Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly |
|
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| A gene locus for progressive familial heart block type II (PFHBII) maps to chromosome 1q32.2-q32.3 |
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| Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder |
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| Haplotypes within genes of β-chemokines in 17q11 are associated with multiple sclerosis: a second phase study |
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| Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation |
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| Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR) |
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| High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas |
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| Maternal lineages and Alzheimer disease risk in the Old Order Amish |
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| Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients |
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| Reciprocal translocations: a trap for cytogenetists? |
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| Use of autosomal loci for clustering individuals and populations of East Asian origin |
|
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| Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency |
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| CTLA4 is differentially associated with autoimmune diseases in the Dutch population |
|
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| Intercellular adhesion molecule-1 and childhood asthma |
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| A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein |
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| Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson’s disease |
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| Complex HTR2C linkage disequilibrium and promoter associations with body mass index and serum leptin |
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| DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS |
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| Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase |
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| Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy |
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| Human Molecular Genetics, 3rd edition, by Tom Strachan, Andrew Read. Garland Science, ISBN 0-8153-4184-9, paperback |
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| Silvia Garagna (ed) Mouse genetics after the mouse genome. Karger, ISBN 3-805-57783-4, hardcover |
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| Yury Verlinsky and Anver Kuliev (eds) Atlas of preimplantation genetic diagnosis, 2nd edition. Taylor & Francis, ISBN 1-842-14245-3, hardcover |
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| A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease |
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| David N. Cooper (ed) The molecular genetics of lung cancer (2005). Springer, ISBN 3-540-22985-X, hardcover, €106.99 |
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| A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy |
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| Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis |
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| Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia |
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| Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations |
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| Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides |
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| Acknowledgement to Referees 2004 |
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| Human Gene Mutations |
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| The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein |
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| SNP microarray analysis for genome-wide detection of crossover regions |
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| Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children |
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| The genetic legacy of western Bantu migrations |
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| Sex differential in methylation patterns of selected genes in Singapore Chinese |
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✓ |
|
Singapore Chinese |
| Microsatellite variation and evolution of human lactase persistence |
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| FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure |
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| Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes |
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| Unusual segregation products in sperm from a pericentric inversion 17 heterozygote |
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| Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region |
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| Atlas of human chromosome heteromorphisms, by Wyandt HE, Tonk VS (eds), 2004, Kluwer, Dordrecht, ISBN 1-4020-1303-5, £97.00, $154.00, hardcover |
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| Genetic Predisposition to Cancer, 2nd edition, by R.A. Eeles, D.F. Easton, B.A.J. Ponder, C. Eng (editors) Arnold, London, 2004, ISBN 0-340-76254-3, hardcover, £ 95.00 |
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| Linkage analysis of a completely ascertained sample of familial schizophrenics and bipolars from Palau, Micronesia |
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| The heretic in Darwin’s Court: the life of Alfred Russel Wallace, by Ross Slotten. 2004. Columbia University Press, ISBN 0231130104, $39.50 |
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| Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations |
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| Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins |
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| Fetal DNA detection in maternal plasma throughout gestation |
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| Evidence for a novel glaucoma locus at chromosome 3p21-22 |
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| Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene |
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| A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region |
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| Association tests of interleukin-6 (IL-6) and type II tumor necrosis factor receptor (TNFR2) genes with bone mineral density in Caucasians using a re-sampling approach |
✓ |
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| Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus |
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| Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization |
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| The ratio of maternal to paternal UPD associated with recessive diseases |
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| Identifying nineteenth century genealogical links from genotypes |
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| Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families |
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| Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec |
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| Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome |
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| Gersen SL, Keagle MB (eds): The principles of clinical cytogenetics, 2nd edn. Humana Press, 2005 (ISBN 1-58829-300-9), hardcover, $145.00 |
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| SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects |
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| Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3 |
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| Eric Lander, David Page, Aravinda Chakravarti (eds): Annual review of genomics and human genetics, volume 5. Annual Reviews, Palo Alto, 2004 (ISBN 0-8243-3705-0), hardcover |
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| A century later Farabee has his mutation |
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| A case of autism and uniparental disomy of chromosome 1 |
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| Evolution versus constitution: differences in chromosomal inversion |
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| The development of human genetics in Germany; a personal view |
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| A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity |
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| The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data |
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| ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype |
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| Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study |
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| A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients |
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| Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) |
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| Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population |
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| A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3 |
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| Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss |
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✓ |
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Chinese |
| Human Gene Mutations |
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| Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample |
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| Dorian J. Pritchard, Bruce R. Korf (Eds): Medical Genetics at a Glance. Blackwell (2003) ISBN 0632063736, paperback, 120 pages, 48 illustrations, £15.95 |
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| De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay |
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| Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease |
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| Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes |
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| AHSG gene variant is associated with leanness among Swedish men |
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| Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma |
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| Genetic evidence in support of a shared Eurasian-North African dairying origin |
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✓ |
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Eurasian, North African |
| Ancestral origins of the prion protein gene D178N mutation in the Basque Country |
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| A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion |
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| Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer |
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| Expression of mutant JAGGED1 alleles in patients with Alagille syndrome |
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| Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations |
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| On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004) |
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| Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2 |
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| Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome |
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| A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype |
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| Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study |
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| FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5�Mb included in the minimal region deleted in 1p36 deletion syndrome |
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| Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction |
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| Human genetics: historical and personal perspectives |
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| Julia Bell and the Treasury of Human Inheritance |
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| A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome |
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| Array CGH detection of a cryptic deletion in a complex chromosome rearrangement |
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| Homeodomain revisited: a lesson from disease-causing mutations |
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| Genes and human elite athletic performance |
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| BRCA1 variants in a family study of African-American and Latina women |
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✓ |
|
African-American and Latina |
| TLR2 Arg677Trp polymorphism in leprosy: revisited |
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| The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans |
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| Single-nucleotide polymorphisms of the KCNS3 gene are significantly associated with airway hyperresponsiveness |
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| Molecular analysis of congenital scoliosis: a candidate gene approach |
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| Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency |
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| The keeshond defect in cardiac conotruncal development is oligogenic1 |
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| DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1 |
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| Association of susceptibility to the development of lung adenocarcinoma with the heme oxygenase-1 gene promoter polymorphism |
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| CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis |
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| A common insertion/deletion polymorphism of the thymidylate synthase (TYMS) gene is a determinant of red blood cell folate and homocysteine concentrations |
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| Non-recombining chromosome Y haplogroups and centromeric HindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK |
✓ |
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| Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene |
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| Molecular distinction between true centric fission and pericentric duplication-fission |
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| Human Gene Mutations |
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| Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population |
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| Signature of recent historical events in the European Y-chromosomal STR haplotype distribution |
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✓ |
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European |
| Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments |
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| Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans |
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| Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the muta |
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| A genomewide scan of male sexual orientation |
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| Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, �160.50 |
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| Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology |
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| Methylenetetrahydrofolate reductase (MTHFR) and susceptibility for (pre)neoplastic cervical disease |
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