| Effects of measured susceptibility genes on cancer risk in family studies |
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| Large intron 14 rearrangement in APC results in splice defect and attenuated FAP |
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| Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm |
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| Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility |
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| Genetics of osteoporosis: accelerating pace in gene identification and validation |
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| Erratum to: Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia |
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| R. C. Elston and W. D. Johnson: Basic biostatistics for geneticists and epidemiologists |
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| SNPs for a universal individual identification panel |
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| Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how? |
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| The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study |
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✓ |
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American Indians |
| Monoamine oxidase A gene polymorphisms and enzyme activity associated with risk of gout in Taiwan aborigines |
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✓ |
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Taiwan aborigines |
| The Q223R polymorphism in LEPR is associated with obesity in Pacific Islanders |
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| Genetic analysis of ABCG2 gene C421A polymorphism with gout disease in Chinese Han male population |
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✓ |
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Chinese Han male population |
| Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia |
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| Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genes |
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| A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E |
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| Common CFTR gene variants influence body composition and survival in rural Ghana |
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| The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank Studies |
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| H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and disease |
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| Novel human pathological mutations |
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| A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss |
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| Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes |
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| Genetic variation in PARL influences mitochondrial content |
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| Mathew B. Hamilton: Population genetics |
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| Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations |
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✓ |
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European populations |
| A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33 |
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| A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia |
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| Transposable elements in disease-associated cryptic exons |
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| Response |
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| Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatment |
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| A comment on the paper: Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish Priesthood by M.F. Hammer, D.M. Behar, T.M. Karafet, F.L. Mendez, B. Hallmark, T. Erez, L.A. |
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| An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese population |
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✓ |
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Chinese population |
| Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West Africans |
✓ |
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✓ |
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African-Americans; West Africans |
| Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes |
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| Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency |
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| Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35) |
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| Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population |
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✓ |
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Chinese Han population |
| Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes |
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| The molecular genetics of blood group polymorphism |
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| Intron 7 conserved sequence elements regulate the splicing of the SMN genes |
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| Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing |
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| Srikumar P. Chellappan: Chromatin protocols |
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| Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping |
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| KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response |
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| Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators |
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| Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood |
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| Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results |
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| Ricardo Benavente and Jean-Nicolas Volff: Meiosis |
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| The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes |
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| Shaffer LG, Slovak ML, Campbell LJ (2009): ISCN 2009 an international system for human cytogenetic nomenclature |
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| Nature meets nurture: molecular genetics of gastric cancer |
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| Novel human pathological mutations |
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| Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer |
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| Evidence for a dominant major gene conferring predisposition to hepatitis C virus infection in endemic conditions |
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| Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28 |
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| Clear and independent associations of several HLA-DRB1 alleles with differential antibody responses to hepatitis B vaccination in youth |
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| Ricardo Benavente and Jean-Nicolas Volff: Meiosis |
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| Genetic risk factors for melanoma |
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| Genetic influence on variation in serum uric acid in American Indians: the strong heart family study |
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✓ |
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American Indians |
| Application of serial analysis of gene expression to the study of human genetic disease |
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| The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations |
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| NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans |
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✓ |
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African-Americans |
| Results from a prostate cancer admixture mapping study in African-American men |
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| Fiftieth anniversary of trisomy 21: returning to a discovery |
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| The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample |
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| Genetics and the brain: many pathways to enlightenment |
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| Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping |
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| Terence J. Bazzett: An introduction to behavior genetics |
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| Gerard de Vries and Klasien Horstman (eds): Genetics from laboratory to society. Societal learning as an alternative to regulation |
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| A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1 |
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| Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain |
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| Genetics of alcohol dependence |
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| Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study |
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| Molecular genetic analysis of Down syndrome |
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| Genetics of psychosis; insights from views across the genome |
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| Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms |
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| Megakaryoblastic leukemia factor-1 gene in the susceptibility to coronary artery disease |
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| In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation |
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| Linkage of atopic dermatitis to chromosomes 4q22, 3p24 and 3q21 |
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| Heike Allgayer, Helga Rehder and Simone Fulda: Hereditary tumours: from genes to clinical consequences |
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| Candidate gene studies of ADHD: a meta-analytic review |
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| Genetics of human aggressive behaviour |
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| Novel human pathological mutations |
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| Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood |
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| Linguistic and maternal genetic diversity are not correlated in Native Mexicans |
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| Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population |
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✓ |
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Dutch genetically isolated population |
| Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency |
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| Molecular genetics of migraine |
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| Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms |
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| Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity |
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| Analytical methods for inferring functional effects of single base pair substitutions in human cancers |
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| Common polymorphic variation in the genetically diverse African insulin gene and its association with size at birth |
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✓ |
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African |
| Non-synonymous GIGYF2 variants in Parkinson’s disease from two Asian populations |
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| Regional genomic instability predisposes to complex dystrophin gene rearrangements |
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| Ancient DNA provides new insights into the history of south Siberian Kurgan people |
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| Michael Fry, Karen Usdin (eds): Human nucleotide expansion disorders |
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| Detection of disease-associated deletions in case–control studies using SNP genotypes with application to rheumatoid arthritis |
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| Strategies and issues in the detection of pathway enrichment in genome-wide association studies |
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| Looking for race in all the wrong places: analyzing the lack of productivity in the ongoing debate about race and genetics |
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| X chromosome inactivation in clinical practice |
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| Genome-wide association studies in ADHD |
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| Population programs for the detection of couples at risk for severe monogenic genetic diseases |
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| Bayesian latent trait modeling of migraine symptom data |
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| Association of three-gene interaction among MTHFR, ALOX5AP and NOTCH3 with thrombotic stroke: a multicenter case–control study |
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| Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness |
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| The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans |
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✓ |
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African-Americans |
| MICA polymorphisms and decreased expression of the MICA receptor NKG2D contribute to idiopathic pulmonary fibrosis susceptibility |
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| Barrett’s oesophagus: an ideal model to study cancer genetics |
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| Balanced translocations in mental retardation |
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| Biomarkers in nutritional epidemiology: applications, needs and new horizons |
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| P53 polymorphism and lung cancer susceptibility: a pooled analysis of 32 case–control studies |
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| ATG16L1 T300A polymorphism and Crohn’s disease susceptibility: evidence from 13,022 cases and 17,532 controls |
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| Analysis of FTO gene variants with measures of obesity and glucose homeostasis in the IRAS Family Study |
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| M. Zenker: Monographs in human genetics Vol. 17, Noonan syndrome and related disorders—a matter of deregulated Ras signalling |
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| Population admixture modulates risk for alcohol dependence |
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| Mutational spectra of human cancer |
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| Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3) |
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| Linkage and heritability analysis of migraine symptom groupings: a comparison of three different clustering methods on twin data |
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| Genetic foundations of human intelligence |
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| Molecular genetics of atherosclerosis |
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| African ancestry is associated with risk of asthma and high total serum IgE in a population from the Caribbean Coast of Colombia |
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| Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements |
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| Novel human pathological mutations |
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| Novel human pathological mutations |
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| A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3 |
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| Bladder cancer SNP panel predicts susceptibility and survival |
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| Genomics and policymaking: from static models to complex systems? |
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| The correspondence of Charles Darwin 1868 |
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| Analyses of associations with asthma in four asthma population samples from Canada and Australia |
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| The molecular basis of human keratin disorders |
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| The genomic basis of cerebral palsy: a HuGE systematic literature review |
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| FAS −1,377 G/A polymorphism is associated with cancer susceptibility: evidence from 10,564 cases and 12,075 controls |
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| Andrew Read and Dian Donnai: New clinical genetics |
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| Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3 |
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| PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets |
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| Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms |
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| SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications |
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| Gene polymorphisms, apoptotic capacity and cancer risk |
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| Lindell Bromham: Reading the story in DNA |
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| Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas |
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| Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement |
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| Use of weighted reference panels based on empirical estimates of ancestry for capturing untyped variation |
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| Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans |
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| Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris (eds): Inborn errors of development |
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| Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans |
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| Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype |
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| Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression |
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| Association of Y chromosome haplogroup I with HIV progression, and HAART outcome |
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| New genetic evidence for involvement of the dopamine system in migraine with aura |
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| STREGA: a ‘How-To’ guide for reporting genetic associations |
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| Professor Peter S. Harper: A short history of medical genetics |
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| Dhavendra Kumar (ed): Genomics and clinical medicine |
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| Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele |
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| Analysis of the MTHFD1 promoter and risk of neural tube defects |
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| Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis |
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| Non-random X chromosome inactivation in Aicardi syndrome |
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