| Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population |
✓ |
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| High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications |
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| A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss |
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| A case of true hermaphroditism reveals an unusual mechanism of twinning |
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| Times of triumph, times of doubt and the battle for public trust |
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| The glu298asp polymorphism in the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case–control studies |
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| Genetic counselling: a psychological approach: Christine Evans (2006) |
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| Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics |
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| Obituary: Prof. Dr. med. Dr. h. c. Friedrich Vogel (1925–2006) |
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| Genetic polymorphisms in the oxidative stress pathway and susceptibility to non-Hodgkin lymphoma |
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| My last visit with Friedrich Vogel: a personal remembrance |
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| Friedrich Vogel 1925–2006 |
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| Resequencing and association analysis of the SP110 gene in adult pulmonary tuberculosis |
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| A century later Farabee has his mutation |
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| The chemokine (C-C-motif) receptor 3 (CCR3) gene is linked and associated with age at menarche in Caucasian females |
✓ |
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| Quantitative linkage genome scan for atopy in a large collection of Caucasian families |
✓ |
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| A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence? |
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| Fine-mapping the putative chromosome 17q21–22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis |
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| Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci |
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| TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects |
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| Functional inference of the methylenetetrahydrofolate reductase 677 C > T and 1298A > C polymorphisms from a large-scale epidemiological study |
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| Analysis of segmental duplications reveals a distinct pattern of continuation-of-synteny between human and mouse genomes |
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| Novel human pathological mutations |
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| A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction |
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| New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy |
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| Extremely skewed X-chromosome inactivation is increased in pre-eclampsia |
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| A genome-wide linkage scan for quantitative trait loci underlying obesity related phenotypes in 434 Caucasian families |
✓ |
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| Y-chromosomal insights into the genetic impact of the caste system in India |
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| Contributions of the DAT1 and DRD2 genes to serious and violent delinquency among adolescents and young adults |
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| A novel locus for maternally inherited human gingival fibromatosis at chromosome 11p15 |
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| Residual linkage: why do linkage peaks not disappear after an association study? |
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| Paul Polani and the development of medical genetics |
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| Structural divergence between the human and chimpanzee genomes |
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| The possible role of 10398A and 16189C mtDNA variants in providing susceptibility toT2DM in two North Indian populations: a replicative study |
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✓ |
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North Indian populations |
| Admixture in Mexico City: implications for admixture mapping of Type 2 diabetes genetic risk factors |
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| Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3 |
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| Association of warfarin dose with genes involved in its action and metabolism |
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| Cytogenetically balanced translocations are associated with focal copy number alterations |
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| Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males |
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| Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome |
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| Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse |
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| The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence |
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| Evidence for statistical epistasis between catechol-O-methyltransferase (COMT) and polymorphisms in RGS4, G72 (DAOA), GRM3, and DISC1: influence on risk of schizophrenia |
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| Subsets of SNPs define rare genotype classes that predict ischemic heart disease |
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| Elevated male European and female African contributions to the genomes of African American individuals |
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✓ |
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male European |
| Identification of a regulatory SNP in the retinol binding protein 4 gene associated with type 2 diabetes in Mongolia |
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| Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans |
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✓ |
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European Americans |
| Identifying genes underlying skin pigmentation differences among human populations |
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| The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction |
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| Predictors of uptake of obesity genetic testing among affected adults |
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| Ian D. Young: Medical genetics |
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| A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3 |
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| High-resolution mapping of DNA methylation in human genome using oligonucleotide tiling array |
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| Significant linkage to airway responsiveness on chromosome 12q24 in families of children with asthma in Costa Rica |
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| Family-based association study of matrix metalloproteinase-3 and -9 haplotypes with susceptibility to ischemic white matter injury |
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| The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model |
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| Association of Hck genetic polymorphisms with gene expression and COPD |
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| Lack of association between rs7566605 and obesity in a Chinese population |
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| Fibrillin I gene polymorphism is associated with tall stature of normal individuals |
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| Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients |
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| Genetics of preeclampsia: paradigm shifts |
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| A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient |
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| Diego F. Wyszynski: Neural tube defects. From origin to treatment |
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| Association study on chromosome 20q11.21-13.13 locus and its contribution to type 2 diabetes susceptibility in Japanese |
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✓ |
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Japanese |
| Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations |
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| Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-κB) gene in a large Caucasian sample |
✓ |
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| Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts |
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| A shared Y-chromosomal heritage between Muslims and Hindus in India |
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| Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts |
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| Potential effect on cellular response to cadmium of a single-nucleotide A → G polymorphism in the promoter of the human gene for metallothionein IIA |
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| Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics |
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| Bias, precision and heritability of self-reported and clinically measured height in Australian twins |
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| A classical likelihood based approach for admixture mapping using EM algorithm |
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| Genetic characterization and fine mapping of susceptibility loci for sarcoidosis in African Americans on chromosome 5 |
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| A molecular mechanism for the differential regulation of TGF-β1 expression due to the common SNP −509C-T (c. −1347C > T) |
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| Clinical and molecular genetic features of ARC syndrome |
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| The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males |
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| Identification and characterization of a novel human dysferlin transcript: dysferlin_v1 |
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| Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation |
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| Gene-based analysis suggests association of the nicotinic acetylcholine receptor β1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence |
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| Heterogeneity-based genome search meta-analysis for preeclampsia |
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| Yury Verlinsky, Anver Kuliev: Practical preimplantation genetic diagnosis |
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| Genome-wide linkage scans for loci affecting total cholesterol, HDL-C, and triglycerides: the Family Blood Pressure Program |
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| Confirmation of linkage to chromosome 1q for spine bone mineral density in southern Chinese |
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| Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease |
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| Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations |
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| Dhavendra Kumar (Ed): Genetic disorders of the Indian subcontinent (2004) |
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| Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts |
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| Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome |
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| A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus |
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| Detecting disease gene in DNA haplotype sequences by nonparametric dissimilarity test |
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| A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR |
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| Association analysis of SOD2 variants with methamphetamine psychosis in Japanese and Taiwanese populations |
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✓ |
|
Japanese and Taiwanese populations |
| A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression |
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✓ |
|
Chinese |
| Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity |
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| An angiotensin converting enzyme haplotype predicts survival in patients with end stage renal disease |
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| Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations |
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| Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing |
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| Cytogenetics of human germ cells |
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| A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12 |
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| Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes |
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| A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array |
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| A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia |
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| Cyclin D1 splice variant and risk for non-Hodgkin lymphoma |
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| Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome |
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| Announcement |
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| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome |
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| Variants in the HEPSIN gene are associated with prostate cancer in men of European origin |
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✓ |
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men of European origin |
| The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients |
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| Meta-analysis shows association between the tryptophan hydroxylase (TPH) gene and schizophrenia |
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| Identification of genetic loci for basal cell nevus syndrome and inflammatory bowel disease in a single large pedigree |
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| Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families |
✓ |
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| ICAM gene cluster SNPs and prostate cancer risk in African Americans |
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| Differential expression of the cardiac ryanodine receptor in normal and arrhythmogenic right ventricular cardiomyopathy canine hearts |
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| Novel human pathological mutations |
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| The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells |
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| ITGB3 shows genetic and expression interaction with SLC6A4 |
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| No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese |
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✓ |
|
Japanese |
| DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2 |
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| A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance |
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| Efficient selection of tagging single-nucleotide polymorphisms in multiple populations |
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| Loss of function polymorphisms in NAT1 protect against spina bifida |
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| Racial admixture and its impact on BMI and blood pressure in African and Mexican Americans |
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| A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview |
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| Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut |
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| X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology |
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| Methods to classify familial relationships in the presence of laboratory errors, without parental data |
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| Stefan Müller (Ed.): Primate cytogenetics |
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| Strong association between polymorphisms in ANKH locus and skeletal size traits |
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| Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing |
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| Treatment of human disease by adeno-associated viral gene transfer |
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| A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1 |
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| Genome-wide meta-analysis for rheumatoid arthritis |
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| A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine |
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| Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population |
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✓ |
|
Chinese population |
| β2-Adrenergic receptor polymorphisms: pharmacogenetic response to bronchodilator among African American asthmatics |
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✓ |
|
African American |
| Genome scans and gene expression microarrays converge to identify gene regulatory loci relevant in schizophrenia |
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| Common chromatin structures at breakpoint cluster regions may lead to chromosomal translocations found in chronic and acute leukemias |
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| Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke |
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| Genome-wide linkage analysis of population variation in high-density lipoprotein cholesterol |
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| Allelic spectrum of the natural variation in CRP |
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| Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice |
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| Ascertainment adjustment in genetic studies of ordinal traits |
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| A reappraisal of complete mtDNA variation in East Asian families with hearing impairment |
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| Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy |
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| Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12 |
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| Missense mutations in the BMP15 gene are associated with ovarian failure |
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| A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women |
✓ |
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| Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number |
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| Allele-specific relative telomere lengths are inherited |
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| Evolutionary evidence suggests that CpG island-associated Alus are frequently unmethylated in human germline |
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| Seventh international meeting on single nucleotide polymorphism and complex genome analysis: ‘ever bigger scans and an increasingly variable genome’ |
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| Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection |
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| Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36 |
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✓ |
|
Ashkenazi Jewish families |
| Novel human pathological mutations |
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| Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man |
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| Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses |
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| Interferon gamma polymorphisms and their interaction with smoking are associated with lung function |
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| Association between the MLH1 gene and longevity |
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| Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening |
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| Karl Pearson. The scientific life in a statistical age (2004) By Theodore M. Porter, Princeton University Press, ISBN 0-691-11445-5, 352 pages, $37.95 |
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| The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis |
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| Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians |
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| The discovery of the human chromosome number in Lund, 1955–1956 |
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| Genetic influence on human lifespan and longevity |
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| Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men |
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| Genetic linkage of human height is confirmed to 9q22 and Xq24 |
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| Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome |
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| Identification of functional single nucleotide polymorphism haplotypes in the cytidine deaminase promoter |
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| Further clarification of the contribution of the tryptophan hydroxylase (TPH) gene to suicidal behavior using systematic allelic and genotypic meta-analyses |
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| Allele-specific relative telomere lengths are inherited |
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| John C. Avise: The hope, hype and reality of genetic engineering (2004) |
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| Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain |
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| Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus |
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| Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease? |
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| MUTYH and the mismatch repair system: partners in crime? |
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| Y-chromosomes and the extent of patrilineal ancestry in Irish surnames |
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| On the utility of data from the International HapMap Project for Australian association studies |
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| A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis |
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| A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome |
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| Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus |
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| Human-specific nonsense mutations identified by genome sequence comparisons |
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| Micro-array analyses decipher exceptional complex familial chromosomal rearrangement |
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| Archives and human genetics: saving the past for the future |
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| Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation |
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| Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization |
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| Novel human pathological mutations |
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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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