| Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation |
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| Cystic Fibrosis: Cystic fibrosis and lactase persistence: a possible correlation |
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| Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris |
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| Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3 |
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| Methods for the selection of tagging SNPs: a comparison of tagging efficiency and performance |
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| No contribution of angiotensin-converting enzyme (ACE) gene variants to severe obesity: a model for comprehensive case/control and quantitative cladistic analysis of ACE in human diseases |
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| A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe |
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| Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases? |
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| Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel |
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| Enhanced linkage of a locus on chromosome 2 to premature coronary artery disease in the absence of hypercholesterolemia |
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| Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study |
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| Reply to Jaskowski et al |
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| Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia |
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| Stability of BAT26 in Lynch syndrome colorectal tumours |
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| Using HapMap data: a cautionary note |
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| Erratum: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia |
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| Erratum: A test of homogeneity of Hardy–Weinberg disequilibrium across strata |
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| Erratum: The emergence of an ethical duty to disclose genetic research results: international perspectives |
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| Replication of reported linkages for dyslexia and spelling and suggestive evidence for novel regions on chromosomes 4 and 17 |
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| Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization |
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| Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? |
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| The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White |
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| Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients |
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| Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 |
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| Pairwise linkage disequilibrium under disease models |
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| Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease |
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| Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus |
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| A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions |
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| Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis |
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| Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan |
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✓ |
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Greek |
| Implication of abnormal epigenetic patterns for human diseases |
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| Diagnostics: Genomic copy number analysis in mental retardation: finding the needles in the haystack |
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| Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks |
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| A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation |
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| Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach |
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| Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation |
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| Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry |
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| The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes |
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| Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias |
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✓ |
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Chinese |
| Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension |
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| Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients |
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| A balanced perspective of psychiatric genetics: Psychiatric Genetics and Genomics |
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| A breath of fresh air: Respiratory Genetics |
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| A recent genetic link between Sami and the Volga-Ural region of Russia |
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| Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromati |
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| Sotos syndrome |
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| Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels |
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| X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11 |
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| Neurofibromatosis 1 |
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| A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2 |
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| The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysis |
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| Changing rates of genetic subtypes of Prader–Willi syndrome in the UK |
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| Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers |
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| Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3 |
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| Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome |
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| Erratum: The population history of the Croatian linguistic minority of Molise (southern Italy): a maternal view |
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| Erratum: Meta-analysis of TNF-α promoter −308 A/G polymorphism and SLE susceptibility |
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|
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| Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia |
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| Strong linkage on 2q33.3 to familial early-onset generalized osteoarthritis and a consideration of two positional candidate genes |
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| The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900) |
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| Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes |
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| Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene |
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| A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? |
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| Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy |
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| An utter refutation of the ‘Fundamental Theorem of the HapMap’ by Terwilliger and Hiekkalinna |
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| The challenges of Proteus syndrome: diagnosis and management |
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| Rubinstein–Taybi syndrome |
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| Tuberous sclerosis |
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| The emergence of an ethical duty to disclose genetic research results: international perspectives |
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| A test of homogeneity of Hardy-Weinberg disequilibrium across strata |
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| DISCERN-Genetics: quality criteria for information on genetic testing |
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| An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension |
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| Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease |
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| Rett syndrome: new clinical and molecular insights |
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| A practical guide for your daily activity: Atlas of Metabolic Diseases – Second Edition |
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| Erratum: Optimal genotype determination in highly multiplexed SNP data |
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| Practical genetics series introduction: Information overload, a double-edged sword |
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| Gene mapping: Balance among quality, quantity and cost of data in the era of whole-genome mapping for complex disease |
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| A functional candidate screen for coeliac disease genes |
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| Parkinson's Disease: The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics |
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| Alcoholism: Study boosts evidence on linkage regions associated with alcoholism |
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| Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers |
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|
| Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism |
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| Epigenetics or ephemeral genetics? |
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| Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene |
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| Reply to Senn |
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| The value of gene-based selection of tag SNPs in genome-wide association studies |
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| Handy Book on Cancer Genetics Risk Assessment |
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| Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study |
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| DNA repair gene XRCC3 polymorphisms and cancer risk: a meta-analysis of 48 case–control studies |
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| Association study of the G-protein signaling 4 (RGS4) and proline dehydrogenase (PRODH) genes with schizophrenia: a meta-analysis |
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| Syndrome identification based on 2D analysis software |
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| Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation |
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| TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions |
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| ADAM33 haplotypes are associated with asthma in a large Australian population |
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| The downstream modulator of interferon-γ, STAT1 is not genetically associated to the Dutch coeliac disease population |
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| A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment |
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✓ |
|
Norwegian |
| AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia |
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| Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease |
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| The role of mutagenesis in defining genes in behaviour |
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| Molecular genetics of the fruit-fly circadian clock |
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| The genetic basis of emotional behaviour in mice |
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| Molecular genetic studies of schizophrenia |
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| The genetics of developmental dyslexia |
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| Genetics of intelligence |
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| Focus on behavioural genetics |
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| Genetics of autism spectrum disorder |
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| A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements |
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| A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region |
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| Variance components model with disequilibria |
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| Y-chromosome diversity in Sweden – A long-time perspective |
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| Genetic testing in Italy, year 2004 |
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| Skin Cancer: Basal cell carcinoma: genetic homogeneity in a tumour type displaying phenotypic diversity |
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| Genetics of affective (mood) disorders |
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| Genetics and pathophysiology of mental retardation |
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| Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features |
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| The influence of the alpha-adducin G460W polymorphism and angiotensinogen M235T polymorphism on antihypertensive medication and blood pressure |
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| OLR1 gene and coronary artery disease/acute myocardial infarction: replication in an independently collected sample |
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| Reply to Novelli |
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| Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene |
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| A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus |
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| Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility |
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| A simple method to localise pleiotropic susceptibility loci using univariate linkage analyses of correlated traits |
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| Rapid genotyping of common deficient thiopurine S-methyltransferase alleles using the DNA-microchip technique |
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| Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis |
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| Association Studies: A genome-wide association approach to mapping the genetic determinants of the transcriptome in human populations |
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| Pigmentary Diversity: Identifying the genes causing human diversity |
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| Covariate-based linkage analysis: application of a propensity score as the single covariate consistently improves power to detect linkage |
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| Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1–15q26.2 |
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| New mutations in the NHS gene in Nance–Horan Syndrome families from the Netherlands |
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| The effective size of the Icelandic population and the prospects for LD mapping: inference from unphased microsatellite markers |
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| A summary statistic approach to sequence variation in noncoding regions of six schizophrenia-associated gene loci |
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| Chromosome 5 and Parkinson disease |
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| Reply to Hochstenbach et al |
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| Segregation ratio in cranio-cerebello-cardiac syndrome |
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|
|
| No evidence for association of a European-specific chromosome 17 inversion with multiple sclerosis |
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|
✓ |
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|
European-specific |
| 2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism |
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| Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases |
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| KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features |
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| Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses |
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| Localization of candidate regions for a novel gene for Kartagener syndrome |
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| Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma |
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| Reply to Professor Haig |
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| Congenital bilateral absence of the vas deferens and recombination at CFTR |
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| Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay |
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| Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q |
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| Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia |
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| The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues |
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| The need for interaction between assisted reproduction technology and genetics |
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| Assisted reproduction and genetics |
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| Clinical genetics: Medical genetics |
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| Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations |
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| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11 |
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| Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome |
|
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| Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics |
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| Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15 |
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| Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity |
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| SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations |
✓ |
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| Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19 |
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| Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome |
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| Evolutionary Genetics: Is brain evolution still continuing in modern humans? |
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| Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype |
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| Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population |
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| New variants in the mitochondrial genomes of schizophrenic patients |
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| Huntington's Disease: A transcriptional report card from the peripheral blood: Can it measure disease progression in Huntington's disease? |
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| Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders |
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| Use of phenotypic covariates in association analysis by sequential addition of cases |
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| Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine |
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| A novel mutation in JARID1C gene associated with mental retardation |
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| Human Genome: Which proteins contribute to human-chimpanzee differences? |
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| Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development |
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| MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34 |
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| A text-mining analysis of the human phenome |
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| Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations |
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| The impact of data quality on the identification of complex disease genes: experience from the Family Blood Pressure Program |
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| Schizophrenia genetics: uncovering positional candidate genes |
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| 3000 years of solitude: extreme differentiation in the island isolates of Dalmatia, Croatia |
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| Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the |
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| Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study |
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| Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases |
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| Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect |
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| Molecular analysis of a human PAX6 homeobox mutant |
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| Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis |
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| An utter refutation of the ‘Fundamental Theorem of the HapMap’ |
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| It's ‘back to school’ for genetic screening |
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| Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications |
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| Influence of serotonin receptor 2A His452Tyr polymorphism on brain temporal structures: a volumetric MR study |
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| Y-chromosomal STR haplotype analysis reveals surname-associated strata in the East-German population |
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| Identification of probable genotyping errors by consideration of haplotypes |
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| Highly discrepant proportions of female and male Scandinavian and British Isles ancestry within the isolated population of the Faroe Islands |
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Scandinavian and British Isles ancestry |
| The adiponectin gene is associated with adiponectin levels but not with characteristics of the insulin resistance syndrome in healthy Caucasians |
✓ |
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| Meta-analysis of TNF-α promoter −308 A/G polymorphism and SLE susceptibility |
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| Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi |
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| Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome |
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| Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor |
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| Ovarian Cancer: Identification of remodeling and spacing factor 1 (rsf-1, HBXAP) at chromosome 11q13 as a putative oncogene in ovarian cancer |
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| Reply to Dr Martin |
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| Epigenetics: Sins of the fathers, and their fathers |
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| Reply to Tenesa et al ‘Association of DLG5 and inflammatory bowel disease across populations’ |
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| A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p |
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| The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents |
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| Validity of tagging SNPs across populations for association studies |
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| Abolishing Trp53-dependent apoptosis does not benefit spinal muscular atrophy model mice |
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| Association of DLG5 and inflammatory bowel disease across populations |
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| Linkage and potential association of obesity-related phenotypes with two genes on chromosome 12q24 in a female dizygous twin cohort |
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| Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling? |
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| Personalized Medicine Europe: Health, Genes and Society: Tel-Aviv University, Tel-Aviv, Israel, June 19–21, 2005 |
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| Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos |
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| Reply to Daly and Rioux response |
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| Prion disease genetics |
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