| Significant association of DRD1 with nicotine dependence |
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| A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22–q11.2 |
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| Fine mapping of familial prostate cancer families narrows the interval for a susceptibility locus on chromosome 22q12.3 to 1.36 Mb |
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| Comments on the entropy-based transmission/disequilibrium test |
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| Promoter methylation study of the H37/RBM5 tumor suppressor gene from the 3p21.3 human lung cancer tumor suppressor locus |
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| Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology? |
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| A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression |
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| Methods for meta-analysis in genetic association studies: a review of their potential and pitfalls |
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| Relationship between two sequence variations in the gene for peroxisome proliferator-activated receptor-gamma and plasma homocysteine concentration. Health in men study |
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| Replication of an association between 17q21 SNPs and asthma in a French-Canadian familial collection |
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| Parental transmission of HLA-DRB1*15 in multiple sclerosis |
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| Functional characterization of the human TPH2 5′ regulatory region: untranslated region and polymorphisms modulate gene expression in vitro |
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| Induction of full-length survival motor neuron by polyphenol botanical compounds |
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| Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy |
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| A genome-wide approach to identifying novel-imprinted genes |
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| Eberhard Passarge: Color atlas of genetics |
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| Evidence for linkage of a new region (11p14) to eczema and allergic diseases |
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| A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p |
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| Positive association between OLIG2 and schizophrenia in the Chinese Han population |
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| Localization of a novel gene for congenital nonsyndromic simple microphthalmia to chromosome 2q11-14 |
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| CFTR mutations and reproductive outcomes in a population isolate |
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| Discovering DNA: Friedrich Miescher and the early years of nucleic acid research |
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| One-carbon metabolism gene polymorphisms and risk of non-Hodgkin lymphoma in Australia |
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| Novel human pathological mutations |
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| IL-6 gene variation is associated with IL-6 and C-reactive protein levels but not cardiovascular outcomes in the Cardiovascular Health Study |
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| Methods to impute missing genotypes for population data |
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| RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy |
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| Gender specific differences in levels of DNA methylation at selected loci from human total blood: a tendency toward higher methylation levels in males |
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| Imprinting detection by extending a regression-based QTL analysis method |
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| Novel human pathological mutations |
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| Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study |
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| The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient |
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| A most distant intergeneric hybrid offspring (Larcon) of lesser apes, Nomascus leucogenys and Hylobates lar |
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| Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis |
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| High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome |
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| Interaction between the UCP2–866G/A, mtDNA 10398G/A and PGC1α p.Thr394Thr and p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population |
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| Barbara Migeon: Females are mosaics: X inactivation and sex differences in disease |
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| Editorial |
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| The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3 |
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| Genotype–phenotype correlations for SLC26A4-related deafness |
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| Tracing genetic history of modern humans using X-chromosome lineages |
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| Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 |
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| Polymorphisms in the 3′ UTR in the neurocalcin δ gene affect mRNA stability, and confer susceptibility to diabetic nephropathy |
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| Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum |
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| Synergistic contribution of CD14 and HLA loci in the susceptibility to Buerger disease |
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| Comments on the paper by D. Li and L. He: Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia |
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| In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome |
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| Y chromosomes of prehistoric people along the Yangtze River |
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| Germ-line DNA copy number variation frequencies in a large North American population |
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| Evidence for a large double-cruciform DNA structure on the X chromosome of human and chimpanzee |
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| Variation in the selenoprotein S gene locus is associated with coronary heart disease and ischemic stroke in two independent Finnish cohorts |
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| Progress in defining the molecular biology of age related macular degeneration |
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| Genetic variation in prehistoric Sardinia |
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| Human Gene Mutations |
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| Multilocus OCA2 genotypes specify human iris colors |
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| Variation in estimated recombination rates across human populations |
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| Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene |
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| A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3 |
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| Refinement of the genetic cause of ATR-16 |
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| Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis |
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| Molecular characterization of a polymorphic 3-Mb deletion at chromosome Yp11.2 containing the AMELY locus in Singapore and Malaysia populations |
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| Protein C promoter polymorphisms associate with sepsis in children with systemic meningococcemia |
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| NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner |
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| A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation |
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| Imprinting detection by extending a regression-based QTL analysis method |
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| The COL1A1 gene and high myopia susceptibility in Japanese |
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| Evaluation of the SNP tagging approach in an independent population sample—array-based SNP discovery in Sami |
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✓ |
|
Sami |
| The effects of polymorphisms in genes from the renin–angiotensin, bradykinin, and fibrinolytic systems on plasma t-PA and PAI-1 levels are dependent on environmental context |
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| Tagging SNPs in the kallikrein genes 3 and 2 on 19q13 and their associations with prostate cancer in men of European origin |
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|
✓ |
|
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|
men of European origin |
| Common genetic variation in eight genes of the GH/IGF1 axis does not contribute to adult height variation |
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| Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease |
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| A twin study of auditory processing indicates that dichotic listening ability is a strongly heritable trait |
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| High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor |
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| The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer |
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| Judith Hall, Judith Allanson, Karen Gripp, Anne Slavotinek (eds): Handbook of Physical Measurement, 2007 |
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| An extension of the weighted dissimilarity test to association study in families |
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| Deletions in chromosome 4 differentially associated with the development of cervical cancer: evidence of slit2 as a candidate tumor suppressor gene |
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| Attila Lorincz: Nucleic acid testing for human disease, 2006 |
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| A locus on chromosome 10 influences C-reactive protein levels in two independent populations |
|
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|
| A TNF region haplotype offers protection from typhoid fever in Vietnamese patients |
|
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| Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 (DAX1) |
|
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| Genetic variation in catechol-O-methyltransferase (COMT) and obesity in the prostate, lung, colorectal, and ovarian (PLCO) cancer screening trial |
|
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|
|
| Sex-specific effects of ACE I/D and AGT-M235T on pulse pressure: the HyperGEN Study |
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|
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| Parent–child pair design for detecting gene–environment interactions in complex diseases |
|
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| Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome |
|
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|
|
| Genome-wide linkage scan of prostate cancer Gleason score and confirmation of chromosome 19q |
|
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|
|
| Bivariate linkage confirms genetic contribution to fetal origins of childhood growth and cardiovascular disease risk in Hispanic children |
|
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|
✓ |
|
Hispanic |
| Genetic association of IRF5 with SLE in Mexicans: higher frequency of the risk haplotype and its homozygozity than Europeans |
|
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|
✓ |
|
|
|
Europeans |
| Evidence for a pleiotropic QTL on chromosome 5q13 influencing both time to asthma onset and asthma score in French EGEA families |
|
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|
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| Extreme individual marker FST values do not imply population-specific selection in humans: the NRG1 example |
|
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|
|
| Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies |
|
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|
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| Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study |
|
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|
|
| Novel human pathological mutations |
|
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|
|
| Genetic liability to schizophrenia in Oceanic Palau: a search in the affected and maternal generation |
|
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|
| A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12–q14 |
|
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|
|
| Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome |
|
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|
|
| Linkage and association analysis of candidate genes for TB and TNFα cytokine expression: evidence for association with IFNGR1, IL-10, and TNF receptor 1 genes |
|
|
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|
|
| Announcement |
|
|
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|
|
| The P239S palladin variant does not account for a significant fraction of hereditary or early onset pancreas cancer |
|
|
|
|
|
|
|
|
|
| A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family |
|
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|
|
| A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland |
|
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|
|
| Genetic admixture, adipocytokines, and adiposity in Black Americans: the Health, Aging, and Body Composition study |
|
|
|
|
|
|
|
|
|
| PGC-1α Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study |
|
|
|
|
|
|
|
|
|
| Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3 |
|
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|
|
| Joe T. R. Clarke: A clinical guide to inherited metabolic diseases |
|
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| Association of ALOX5AP with ischemic stroke: a population-based case-control study |
|
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|
|
| An investigation of genome-wide associations of hypertension with microsatellite markers in the family blood pressure program (FBPP) |
|
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|
|
| A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36 |
|
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|
|
| Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study |
|
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|
✓ |
|
African-American |
| Detlev Ganten, Klaus Ruckpaul: Encyclopedic reference of genomics and proteomics in molecular medicine |
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|
| Testing for association based on excess allele sharing in a sample of related cases and controls |
|
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|
|
| Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region |
|
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|
|
| Genetic polymorphisms in transforming growth factor beta-1 (TGFB1) and childhood asthma and atopy |
|
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|
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| A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis |
|
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| Candidate SNPs for a universal individual identification panel |
|
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| Common variation in KLKB1 and essential hypertension risk: tagging-SNP haplotype analysis in a case-control study |
|
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|
|
| Anthony H. Futerman, Ari Zimran: Gaucher Disease |
|
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| Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population |
|
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|
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| AZFc somatic microdeletions and copy number polymorphism of the DAZ genes in human males exposed to natural background radiation |
|
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|
| J. R. Lupski and P.T. Stankiewicz: Genomic disorders: the genomic basis of disease |
|
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| An entropy-based genome-wide transmission/disequilibrium test |
|
|
|
|
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|
|
| Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome |
|
|
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|
|
| Genetic markers for glutamic acid decarboxylase do not predict insulin-dependent diabetes mellitus in pairs of affected siblings |
|
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|
|
| Kenneth Lyons Jones (ed): Smith’s recognizable patterns of human malformation |
|
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|
|
| Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations |
|
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|
|
| Novel human pathological mutations |
|
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|
|
| SP110 polymorphisms are not associated with pulmonary tuberculosis in a South African population |
|
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|
|
| Cholesteryl ester transfer protein gene haplotypes, plasma high-density lipoprotein levels and the risk of coronary heart disease |
|
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|
|
| Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms |
|
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|
| The advantages of dense marker sets for linkage analysis with very large families |
|
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|
|
| Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia |
|
|
|
|
|
|
|
|
|
| Quantitative effects of common genetic variations in the 3′UTR of the human LDL-receptor gene and their associations with plasma lipid levels in the Atherosclerosis Risk in Communities study |
|
|
|
|
|
|
|
|
|
| A novel locus for autosomal recessive spastic ataxia on chromosome 17p |
|
|
|
|
|
|
|
|
|
| Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14 |
|
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|
|
| Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis |
|
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|
|
| The physical phenotype of girls and women with Turner syndrome is not X-imprinted |
|
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|
|
| M. K. Raizada, J. F. R. Paton, S. Kasparov, M. J. Katovich (eds): Cardiovascular genomics |
|
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|
|
| “First years of human chromosomes” The Beginnings of Human Cytogenetics, Peter S. Harper, 2006 |
|
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|
|
| Autosomal recessive juvenile onset cataract associated with mutation in BFSP1 |
|
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|
|
| Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation |
|
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|
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|
|
| CYP19A1 polymorphisms are associated with bone mineral density in Chinese men |
|
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|
|
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|
|
| Genetic variation in tumor necrosis factor and lymphotoxin-alpha (TNF–LTA) and breast cancer risk |
|
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|
|
| Edwin K. Silverman, Steven D. Shapiro, David A. Lomas, Scott T. Weiss: Respiratory Genetics |
|
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|
|
| A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34 |
|
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|
|
| Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels |
|
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|
|
| Genetic variation in the base excision repair pathway and bladder cancer risk |
|
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|
|
| PD-1 gene haplotype is associated with the development of type 1 diabetes mellitus in Japanese children |
|
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|
|
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|
|
| Segregation analysis of 1,546 prostate cancer families in Finland shows recessive inheritance |
|
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|
| Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations |
|
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|
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| Heritability and shared environment estimates for myopia and associated ocular biometric traits: the Genes in Myopia (GEM) family study |
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