Works matching IS 14712350 AND DT 2008 AND VI 9

Results: 120

Folliculin mutations are not associated with severe COPD.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 120, doi. 10.1186/1471-2350-9-120
Publication type:: Article

Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 113, doi. 10.1186/1471-2350-9-113
Publication type:: Article

Association between Ngb polymorphisms and ischemic stroke in the Southern Chinese Han population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 110, doi. 10.1186/1471-2350-9-110
Publication type:: Article

A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 97, doi. 10.1186/1471-2350-9-97
Publication type:: Article

Selecting a BRCA risk assessment model for use in a familial cancer clinic.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 116, doi. 10.1186/1471-2350-9-116
Publication type:: Article

DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 115, doi. 10.1186/1471-2350-9-115
Publication type:: Article

An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 114, doi. 10.1186/1471-2350-9-114
Publication type:: Article

Genetic polymorphisms are associated with serum levels of sex hormone binding globulin in postmenopausal women.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 112, doi. 10.1186/1471-2350-9-112
Publication type:: Article

Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 109, doi. 10.1186/1471-2350-9-109
Publication type:: Article

No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 108, doi. 10.1186/1471-2350-9-108
Publication type:: Article

Genomic NGFB variation and multiple sclerosis in a case control study.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 107, doi. 10.1186/1471-2350-9-107
Publication type:: Article

TCF7L2 variant genotypes and type 2 diabetes risk in Brazil: significant association, but not a significant tool for risk stratification in the general population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 106, doi. 10.1186/1471-2350-9-106
Publication type:: Article

Assessment of the feasibility of exon 45-55 multiexon skipping for duchenne muscular dystrophy.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 105, doi. 10.1186/1471-2350-9-105
Publication type:: Article

Human genetic selection on the MTHFR 677C>T polymorphism.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 104, doi. 10.1186/1471-2350-9-104
Publication type:: Article

QTLs of factors of the metabolic syndrome and echocardiographic phenotypes: the hypertension genetic epidemiology network study.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 103, doi. 10.1186/1471-2350-9-103
Publication type:: Article

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 102, doi. 10.1186/1471-2350-9-102
Publication type:: Article

Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 101, doi. 10.1186/1471-2350-9-101
Publication type:: Article

SIRT1 genetic variants associate with the metabolic response of Caucasians to a controlled lifestyle intervention--the TULIP Study.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 100, doi. 10.1186/1471-2350-9-100
Publication type:: Article

A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 99, doi. 10.1186/1471-2350-9-99
Publication type:: Article

Birth weight and blood lipid levels in Spanish adolescents: Influence of selected APOE, APOC3 and PPARgamma2 gene polymorphisms. The AVENA Study.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 98, doi. 10.1186/1471-2350-9-98
Publication type:: Article

Non-synonymous sequence variants within the oxygen-dependent degradation domain of the HIF1A gene are not associated with pre-eclampsia in the Finnish population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 96, doi. 10.1186/1471-2350-9-96
Publication type:: Article

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 95, doi. 10.1186/1471-2350-9-95
Publication type:: Article

Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 94, doi. 10.1186/1471-2350-9-94
Publication type:: Article

Multiple interactions between the alpha<sub>2C</sub>- and beta<sub>1</sub>-adrenergic receptors influence heart failure survival.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 93, doi. 10.1186/1471-2350-9-93
Publication type:: Article

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 92, doi. 10.1186/1471-2350-9-92
Publication type:: Article

Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 91, doi. 10.1186/1471-2350-9-91
Publication type:: Article

Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 90, doi. 10.1186/1471-2350-9-90
Publication type:: Article

Association analyses of the interaction between the ADSS and ATMgenes with schizophrenia in a Chinese population.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 119, doi. 10.1186/1471-2350-9-119
Publication type:: Article

Lack of association between PKLR rs3020781 and NOS1APrs7538490 and type 2 diabetes, overweight, obesity and relatedmetabolic phenotypes in a Danish large-scale study: case-controlstudies and analyses of quantitative traits.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 118, doi. 10.1186/1471-2350-9-118
Publication type:: Article

INSIG2 gene polymorphism is associated with increasedsubcutaneous fat in women and poor response to resistancetraining in men.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 117, doi. 10.1186/1471-2350-9-117
Publication type:: Article

Polymorphisms in the interleukin-10 gene cluster are possiblyinvolved in the increased risk for major depressive disorder.

Published in:: BMC Medical Genetics, 2008, v. 9, p. 111, doi. 10.1186/1471-2350-9-111
Publication type:: Article

Association between variations in the TLR4 gene and incident type 2 diabetes is modified by the ratio of total cholesterol to HDL-cholesterol.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-9

By:

Kolz, Melanie;
Baumert, Jens;
Müller, Martina;
Khuseyinova, Natalie;
Klopp, Norman;
Thorand, Barbara;
Meisinger, Christine;
Herder, Christian;
Koenig, Wolfgang;
Illig, Thomas

Publication type:

Article

French database of children and adolescents with Prader-Willi syndrome.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-89

By:

Molinas, Catherine;
Cazals, Laurent;
Diene, Gwenaelle;
Glattard, Melanie;
Arnaud, Catherine;
Tauber, Maithe

Publication type:

Article

Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-88

By:

Böhm, Johann;
Heinritz, Wolfram;
Craig, Alexander;
Vujic, Mihailo;
Ekman-Joelsson, Britt-Marie;
Kohlhase, Jürgen;
Froster, Ursula

Publication type:

Article

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-87

By:

Xianqin Zhang;
Shenghan Chen;
Li Zhang;
Mugen Liu;
Redfearn, Sharon;
Bryant, Randall M.;
Oberti, Carlos;
Vincent, G. Michael;
Wang, Qing K.

Publication type:

Article

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-86

By:

Peric, Barbara;
Cerkovnik, Petra;
Novakovic, Srdjan;
Zgajnar, Janez;
Besic, Nikola;
Hocevar, Marko

Publication type:

Article

'Fat mass and obesity associated' gene (FTO): No significant association of variant rs9939609 with weight loss in a lifestyle intervention and lipid metabolism markers in German obese children and adolescents.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-85

By:

Müller, Timo D.;
Hinney, Anke;
Scherag, André;
Nguyen, Thuy T.;
Schreiner, Felix;
Schäfer, Helmut;
Hebebrand, Johannes;
Roth, Christian L.;
Reinehr, Thomas

Publication type:

Article

The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-84

By:

Dallongeville, Jean;
Cottel, Dominique;
Wagner, Aline;
Ducimetière, Pierre;
Ruidavets, Jean-Bernard;
Arveiler, Dominique;
Bingham, Annie;
Ferrières, Jean;
Amouyel, Philippe;
Meirhaeghe, Aline

Publication type:

Article

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-83

By:

Krajc, Mateja;
Teugels, Erik;
Zgajnar, Janez;
Goelen, Guido;
Besic, Nikola;
Novakovic, Srdjan;
Hocevar, Marko;
De Grève, Jacques

Publication type:

Article

Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-82

By:

Dongju Su;
Ximei Zhang;
Hong Sui;
Fuzhen Lü;
Lianhong Jin;
Jing Zhang

Publication type:

Article

Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-81

By:

Gaj, Pawel;
Habior, Andrzej;
Mikula, Michal;
Ostrowski, Jerzy

Publication type:

Article

TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-80

By:

Mahurkar, Swapna;
Bhaskar, Seema;
Reddy, D. Nageshwar;
Prakash, Swami;
Rao, G. Venkat;
Singh, Shivaram Prasad;
Thomas, Varghese;
Chandak, Giriraj Ratan

Publication type:

Article

Common variants of the TCF7L2 gene are associated with increased risk of type 2 diabetes mellitus in a UK-resident South Asian population.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-8

By:

Rees, Simon D.;
Bellary, Srikanth;
Britten, Abigail C.;
O'Hare, J. Paul;
Kumar, Sudhesh;
Barnett, Anthony H.;
Kelly, M. Ann

Publication type:

Article

Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: A relationship between HLA and gender is suggested.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-79

By:

Alaez, Carmen;
Ling Lin;
Flores-A., Hilario;
Vazquez, Miriam;
Munguia, Andrea;
Mignot, Emmanuel;
Haro, Reyes;
Baker, Harry;
Gorodezky, Clara

Publication type:

Article

Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-78

By:

Min Chen;
Peyrin-Biroulet, Laurent;
Bing Xia;
Guéant-Rodriguez, Rosa-Maria;
Bronowicki, Jean-Pierre;
Bigard, Marc-André;
Guéant, Jean-Louis

Publication type:

Article

Linkage study of fibrinogen levels: the Strong Heart Family Study.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-77

By:

Best, Lyle G.;
North, Kari E.;
Xia Li;
Palmieri, Vittorio;
Umans, Jason G.;
MacCluer, Jean;
Laston, Sandy;
Haack, Karin;
Goring, Harald;
Diego, Vincent P.;
Almasy, Laura;
Lee, Elisa T.;
Tracy, Russell P.;
Cole, Shelley

Publication type:

Article

Lack of association between serotonin transporter gene polymorphism 5-HTTLPR and smoking among Polish population: a case-control study.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-76

By:

Sieminska, Alicja;
Buczkowski, Krzysztof;
Jassem, Ewa;
Tkacz, Ewa

Publication type:

Article

Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-75

By:

Fontalba, Ana;
Fernandez-L., Africa;
García-Alegria, Eva;
Albiñana, Virginia;
Garrido-Martin, Eva M.;
Blanco, Francisco J.;
Zarrabeitia, Roberto;
Perez-Molino, Alfonso;
Bernabeu-Herrero, Maria E.;
Ojeda, Maria-Luisa;
Fernandez-Luna, Jose L.;
Bernabeu, Carmelo;
Botella, Luisa M.

Publication type:

Article

R497K polymorphism in epidermal growth factor receptor gene is associated with the risk of acute coronary syndrome.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-74

By:

Lin-Bo Gao;
Bin Zhou;
Lin Zhang;
Ye-Sheng Wei;
Yan-Yun Wang;
Wei-Bo Liang;
Mei-Li Lv;
Xin-Min Pan;
Yu-Cheng Chen;
Li Rao

Publication type:

Article

The value of some Corsican sub-populations for genetic association studies.

Published in:

BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-73

By:

Latini, Veronica;
Sole, Gabriella;
Varesi, Laurent;
Vona, Giuseppe;
Ristaldi, Maria Serafina

Publication type:

Article