| Air pollution and mutations in the germline: are humans at risk? |
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| Alan G. Cock, Donald R. Forsdyke: Treasure your exceptions. The science and life of William Bateson |
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| Huntington F. Willard and Geoffrey S. Ginsburg (eds): Genomic and personalized medicine |
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| Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4) |
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| Population admixture associated with disease prevalence in the Boston Puerto Rican health study |
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| Alterations of ROBO1/DUTT1 and ROBO2 loci in early dysplastic lesions of head and neck: clinical and prognostic implications |
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| Stewart Scherer: A short guide to the human genome |
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| A comprehensive evaluation of SNP genotype imputation |
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| Identification of genomic regions contributing to etoposide-induced cytotoxicity |
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| Moyra Smith: Translational research in genetics and genomics |
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| Polymorphisms near SOCS3 are associated with obesity and glucose homeostasis traits in Hispanic Americans from the Insulin Resistance Atherosclerosis Family Study |
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✓ |
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Hispanic Americans |
| David N. Cooper and Hildegard Kehrer-Sawatzki (Eds.): Handbook of human molecular evolution |
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| Lactose digestion and the evolutionary genetics of lactase persistence |
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| Associations of PLA2G7 gene polymorphisms with plasma lipoprotein-associated phospholipase A2 activity and coronary heart disease in a Chinese Han population: the Beijing atherosclerosis study |
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| Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission |
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| Identification of common genetic variants that account for transcript isoform variation between human populations |
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| Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31 |
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| Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects |
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| Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene |
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| Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner |
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| The woman who walked into the sea: Huntington’s and the making of a genetic disease |
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| The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents |
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| Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci |
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| A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria |
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| A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2–q12.3 |
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| The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery |
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| Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation |
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| Increased constraints on MC4R during primate and human evolution |
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| Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas |
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| Genomewide association study for susceptibility genes contributing to familial Parkinson disease |
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| A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype |
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| A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred |
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✓ |
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Manitoba Mennonite kindred |
| Genetic variants in the renin-angiotensin system genes are associated with cardiovascular-renal-related risk factors in Mexican Americans |
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✓ |
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Mexican Americans |
| A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia |
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| Advances in osteoclast biology resulting from the study of osteopetrotic mutations |
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| Ataxia and pancytopenia caused by a mutation in TINF2 |
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| Linkage mapping of CVD risk traits in the isolated Norfolk Island population |
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| Haplotypes of IL-10 promoter variants are associated with susceptibility to severe malarial anemia and functional changes in IL-10 production |
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| Association of the GNAS locus with severe malaria |
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| Identification of copy number variants associated with BPES-like phenotypes |
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| Male–female differences in the genetic regulation of t-PA and PAI-1 levels in a Ghanaian population |
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| MLXIPL variant in individuals with low and high triglyceridemia in white population in Central Europe |
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✓ |
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white population in Central Europe |
| The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts |
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| Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy |
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| MMP-1 polymorphisms and the risk of idiopathic pulmonary fibrosis |
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| Missing data imputation and haplotype phase inference for genome-wide association studies |
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| The human pseudoxanthoma elasticum gene ABCC6 is transcriptionally regulated by PLAG family transcription factors |
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| A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33 |
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| Re-creation of the genetic composition of a founder population |
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| Association of SIRT1 gene variation with visceral obesity |
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| Elof Axel Carlson: Neither gods nor beasts. How science is changing who we think we are |
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| The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis |
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| Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population |
✓ |
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| Genetic regulation of amniotic fluid TNF-alpha and soluble TNF receptor concentrations affected by race and preterm birth |
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| Partial AZFc deletions and duplications: clinical correlates in the Italian population |
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| LRRK2 R1628P increases risk of Parkinson’s disease: replication evidence |
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| Merlin G. Butler, Philip D. K. Lee, Barbara Y. Whitman: Management of Prader-Willi syndrome |
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| Osteoporosis: an evolutionary perspective |
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| Novel human pathological mutations |
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| Human hereditary hearing impairment: mouse models can help to solve the puzzle |
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| Identifying modifier genes of monogenic disease: strategies and difficulties |
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| Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation |
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| Association of amyloid precursor protein-binding protein, family B, member 1 with nicotine dependence in African and European American smokers |
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✓ |
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✓ |
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European American; African |
| Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci |
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| Germline BRCA1 mutations predispose to pancreatic adenocarcinoma |
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| Association of PARL rs3732581 genetic variant with insulin levels, metabolic syndrome and coronary artery disease |
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| Jan A. Witkowski and John R. Inglis (eds): Davenport’s dream. Twenty-first century reflections on heredity and eugenics |
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| Genome-wide distribution of ancestry in Mexican Americans |
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| A germline mutation of the KIF1Bβ gene on 1p36 in a family with neural and nonneural tumors |
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| Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population |
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| Gender influences monoallelic expression of ATP10A in human brain |
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| Association of Interleukin-1 gene polymorphisms with central obesity and metabolic syndrome in a coronary heart disease population |
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| Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? |
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| Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome |
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| Network-based model weighting to detect multiple loci influencing complex diseases |
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| Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease |
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| Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency |
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| A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia |
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| Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers |
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| Polymorphisms of the tumor necrosis factor-alpha receptor 2 gene are associated with obesity phenotypes among 405 Caucasian nuclear families |
✓ |
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| Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics |
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| A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1 |
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| Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease |
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| Evolutionary dynamics of the human ABO gene |
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| Reduced folate carrier 80A→G polymorphism, plasma folate, and risk of placental abruption |
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| Replication of association between ELAVL4 and Parkinson disease: the GenePD study |
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| Hereditary breast cancer: new genetic developments, new therapeutic avenues |
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| Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson’s disease |
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| A genome-wide exploration suggests an oligogenic model of inheritance for the TAFI activity and its antigen levels |
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| Chromosomal map of human brain malformations |
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| Evaluation of a SNP map of 6q24–27 confirms diabetic nephropathy loci and identifies novel associations in type 2 diabetes patients with nephropathy from an African-American population |
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| Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy |
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| Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases |
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| The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level |
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| Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics |
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| Novel microdeletion syndromes detected by chromosome microarrays |
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| KATP channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study |
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| Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents |
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| Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population |
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| Protein C rs2069912 C allele is associated with increased mortality from severe sepsis in North Americans of East Asian ancestry |
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✓ |
|
North Americans of East Asian ancestry |
| Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach |
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| Genome-wide association analysis with selective genotyping identifies candidate loci for adult height at 8q21.13 and 15q22.33-q23 in Mongolians |
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| MAX-rank: a simple and robust genome-wide scan for case-control association studies |
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| R. Lorini, M. Maghnie, G. D’Annunzio, S. Loche, M. O. Savage (eds) Congenital endocrinopathies: new insights into endocrine diseases and diabetes |
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| A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3 |
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| Investigation of the origins of human autosomal inversions |
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| A novel association of a polymorphism in the first intron of adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia in Asian Indians |
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✓ |
|
Asian Indians |
| Novel human pathological mutations |
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| Obituary: Professor Helmut Baitsch (1921–2007) |
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| Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3) |
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| Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation |
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| Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3–p31.1 |
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| Hans-Jürgen Bandelt, Vincent Macaulay and Martin Richards (Eds.): Human mitochondrial DNA and the evolution of Homo sapiens |
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| Substance dependence low-density whole genome association study in two distinct American populations |
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| Evidence for significant heritability of apoptotic and cell cycle responses to ionising radiation |
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| Helen V. Firth and Jane A. Hurst, with advisory editor Judith G. Hall: Oxford Desk Reference: Clinical Genetics |
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| IFNG +874T/A, IL10 -1082G/A and TNF -308G/A polymorphisms in association with tuberculosis susceptibility: a meta-analysis study |
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| Jeremy W Dale and Malcolm von Schantz: From genes to genomes |
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| Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region |
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| Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes |
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| L.A. Cannizzaro and K.H. Ramesh: Cancer genomics |
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| 15-Lipoxygenase gene variants are associated with carotid plaque but not carotid intima-media thickness |
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| Polymorphisms in 9q32 and TSCOT are linked to cervical cancer in affected sib-pairs with high mean age at diagnosis |
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| Genetic variants in the 8q24 locus and risk of testicular germ cell tumors |
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| Chromosomal regions 22q13 and 3p25 may harbor quantitative trait loci influencing both age at menarche and bone mineral density |
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| IL1B gene promoter haplotype pairs predict clinical levels of interleukin-1β and C-reactive protein |
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| Common polymorphisms of ALOX5 and ALOX5AP and risk of coronary artery disease |
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| The human gamma-glutamyltransferase gene family |
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| A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer |
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| A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein |
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| Maternal cigarette smoking, metabolic gene polymorphisms, and preterm delivery: new insights on G×E interactions and pathogenic pathways |
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| Pax6 3′ deletion results in aniridia, autism and mental retardation |
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| Comprehensive evaluation of the estrogen receptor α gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population |
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|
✓ |
|
African American |
| Evolutionary analysis of genes of two pathways involved in placental malaria infection |
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| Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease |
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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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| A genome-wide association scan for asthma in a general Australian population |
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| An insertion/deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women |
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| W.A. Schultz: Molecular biology of human cancers. An advanced student’s textbook |
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| Leprosy as a genetic model for susceptibility to common infectious diseases |
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| Protein C -1641A/-1654C haplotype is associated with organ dysfunction and the fatal outcome of severe sepsis in Chinese Han population |
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✓ |
|
Chinese Han population |
| William Reardon: The Bedside Dysmorphologist |
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| A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9 |
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| Haplotypic analysis of Wellcome Trust Case Control Consortium data |
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| Novel human pathological mutations |
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| Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity |
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| Identifying susceptibility loci for nicotine dependence: 2008 update based on recent genome-wide linkage analyses |
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| Michael H. Crawford (ed): Anthropological genetics |
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| Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent |
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|
✓ |
|
populations of African descent |
| Exploring gene-environment interactions in Parkinson’s disease |
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| Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study |
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| The Environmental Polymorphisms Registry: a DNA resource to study genetic susceptibility loci |
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| Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2–q22.1 in an inbred Pakistani family |
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| The MTHFR gene polymorphism is associated with lean body mass but not fat body mass |
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| PGC-1α Thr394Thr and Gly482Ser variants are significantly associated with T2DM in two North Indian populations: a replicate case-control study |
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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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| Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression |
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| Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis |
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| Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy |
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| Genetic variation in CYP17 and endometrial cancer risk |
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| The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex |
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