Works matching IS 14712350 AND DT 2007 AND VI 8

Results: 100

Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 61, doi. 10.1186/1471-2350-8-61
Publication type:: Article

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 58, doi. 10.1186/1471-2350-8-58
Publication type:: Article

The TCF7L2 locus and type 1 diabetes.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 51, doi. 10.1186/1471-2350-8-51
Publication type:: Article

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 47, doi. 10.1186/1471-2350-8-47
Publication type:: Article

Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 46, doi. 10.1186/1471-2350-8-46
Publication type:: Article

Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 40, doi. 10.1186/1471-2350-8-40
Publication type:: Article

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).

Published in:: BMC Medical Genetics, 2007, v. 8, p. 38, doi. 10.1186/1471-2350-8-38
Publication type:: Article

The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 35, doi. 10.1186/1471-2350-8-35
Publication type:: Article

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 32, doi. 10.1186/1471-2350-8-32
Publication type:: Article

MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 25, doi. 10.1186/1471-2350-8-25
Publication type:: Article

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 22, doi. 10.1186/1471-2350-8-22
Publication type:: Article

Analysis of sequence variations in the suppressor of cytokine signaling (SOCS)-3 gene in extremely obese children and adolescents.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 21, doi. 10.1186/1471-2350-8-21
Publication type:: Article

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 19, doi. 10.1186/1471-2350-8-19
Publication type:: Article

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 16, doi. 10.1186/1471-2350-8-16
Publication type:: Article

Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 15, doi. 10.1186/1471-2350-8-15
Publication type:: Article

Incorporating medical interventions into carrier probability estimation for genetic counseling.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 13, doi. 10.1186/1471-2350-8-13
Publication type:: Article

Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 10, doi. 10.1186/1471-2350-8-10
Publication type:: Article

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 9, doi. 10.1186/1471-2350-8-9
Publication type:: Article

SOD2 polymorphisms: unmasking the effect of polymorphism on splicing.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 7, doi. 10.1186/1471-2350-8-7
Publication type:: Article

Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 6, doi. 10.1186/1471-2350-8-6
Publication type:: Article

Resequencing of genes for transforming growth factor β1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 5, doi. 10.1186/1471-2350-8-5
Publication type:: Article

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Published in:: BMC Medical Genetics, 2007, v. 8, p. 4, doi. 10.1186/1471-2350-8-4
Publication type:: Article

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 81, doi. 10.1186/1471-2350-8-81

By:

Ballana, Ester;
Mercader, Josep Maria;
Fischel-Ghodsian, Nathan;
Estivill, Xavier

Publication type:

Article

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 77, doi. 10.1186/1471-2350-8-77

By:

Sánchez-Juan, Pascual;
Bishop, Matthew T.;
Green, Alison;
Giannattasio, Claudia;
Arias-Vasquez, Alejandro;
Poleggi, Anna;
Knight, Richard S. G.;
van Duijn, Cornelia M.

Publication type:

Article

Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 70, doi. 10.1186/1471-2350-8-70

By:

Kyung-Seon Kim;
Ghi-Su Kim;
Joo-Yeon Hwang;
Hye-Ja Lee;
Mi-Hyun Park;
Kwang-joong Kim;
Jongsun Jung;
Hyo-Soung Cha;
Hyoung Doo Shin;
Jong-Ho Kang;
Eui Kyun Park;
Tae-Ho Kim;
Jung-Min Hong;
Jung-Min Koh;
Bermseok Oh;
Kuchan Kimm;
Shin-Yoon Kim;
Jong-Young Lee

Publication type:

Article

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 65, doi. 10.1186/1471-2350-8-65

By:

Beffagna, Giorgia;
De Bortoli, Marzia;
Nava, Andrea;
Salamon, Michela;
Lorenzon, Alessandra;
Zaccolo, Manuela;
Mancuso, Luisa;
Sigalotti, Luca;
Bauce, Barbara;
Occhi, Gianluca;
Basso, Cristina;
Lanfranchi, Gerolamo;
Towbin, Jeffrey A.;
Thiene, Gaetano;
Danieli, Gian Antonio;
Rampazzo, Alessandra

Publication type:

Article

A novel RUNX2 missense mutation predicted to disrupt DNAbinding causes cleidocranial dysplasia in a large Chinese family withhyperplastic nails.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 82, doi. 10.1186/1471-2350-8-82

By:

Shaohua Tang;
Qiyu Xu;
Xueqin Xu;
Jicheng Du;
Xuemei Yang;
Yusheng Jiang;
Xiaoqin Wang;
Speck, Nancy;
Taosheng Huang

Publication type:

Article

Association between the -455T>C promoter polymorphism of theAPOC3 gene and the metabolic syndrome in a multi-ethnic sample.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 80, doi. 10.1186/1471-2350-8-80

By:

Pollex, Rebecca L.;
Ban, Matthew R.;
Young, T. Kue;
Bjerregaard, Peter;
Anand, Sonia S.;
Yusuf, Salim;
Zinman, Bernard;
Harris, Stewart B.;
Hanley, Anthony J. G.;
Connelly, Philip W.;
Huff, Murray W.;
Hegele, Robert A.

Publication type:

Article

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants donot contribute to low levels of high-density lipoprotein cholesterol.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 79, doi. 10.1186/1471-2350-8-79

By:

Dastani, Zari;
Ruel, Isabelle L.;
Engert, James C.;
Genest Jr., Jacques;
Marcil, Michel

Publication type:

Article

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2alanine residues is without clinical consequences.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 78, doi. 10.1186/1471-2350-8-78

By:

Malik, Sajid;
Girisha, K. M.;
Wajid, Muhammad;
Roy, Akhilesh K.;
Phadke, Shubha R.;
Haque, Sayedul;
Ahmad, Wasim;
Koch, Manuela C.;
Grzeschik, Karl-Heinz

Publication type:

Article

The intron 4c allele of the NOS3 gene is associated with ischemicstroke in African Americans.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 76, doi. 10.1186/1471-2350-8-76

By:

Grewal, R. P.;
Dutra, A. V. C.;
Liao, Yi C.;
Juo, Ss H.;
Papamitsakis, N. I. H.

Publication type:

Article

CD209 in inflammatory bowel disease: a case-control study in theSpanish population.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 75, doi. 10.1186/1471-2350-8-75

By:

Núñez, Concepción;
Oliver, Javier;
Mendoza, Juan Luis;
Gómez-García, María;
Taxonera, Carlos;
Gómez, Luis M.;
López-Nevot, Miguel A.;
de la Concha, Emilio G.;
Urcelay, Elena;
Martínez, Alfonso;
Martín, Javier

Publication type:

Article

Association of autism with polymorphisms in the paired-likehomeodomain transcription factor 1 (PITX1) on chromosome 5q31:a candidate gene analysis.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 74, doi. 10.1186/1471-2350-8-74

By:

Philippi, Anne;
Tores, Frédéric;
Carayol, Jérome;
Rousseau, Francis;
Letexier, Mélanie;
Roschmann, Elke;
Lindenbaum, Pierre;
Benajjou, Abdel;
Fontaine, Karine;
Vazart, Céline;
Gesnouin, Philippe;
Brooks, Peter;
Hager, Jörg

Publication type:

Article

Impact of estrogen receptor gene polymorphisms and mRNA levelson obesity and lipolysis -a- cohort study.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 73, doi. 10.1186/1471-2350-8-73

By:

Nilsson, Maria;
Dahlman, Ingrid;
Hong Jiao;
Gustafsson, Jan-åke;
Arner, Peter;
Dahlman-Wright, Karin

Publication type:

Article

A comprehensive analysis of common genetic variation in prolactin(PRL) and PRL receptor (PRLR) genes in relation to plasmaprolactin levels and breast cancer risk: the Multiethnic Cohort.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 72, doi. 10.1186/1471-2350-8-72

By:

Lee, Sulggi A.;
Haiman, Christopher A.;
Burtt, Noel P.;
Pooler, Loreall C.;
Cheng, Iona;
Kolonel, Laurence N.;
Pike, Malcolm C.;
Altshuler, David;
Hirschhorn, Joel N.;
Henderson, Brian E.;
Stram, Daniel O.

Publication type:

Article

The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot beexcluded from having effects in type 1 diabetes.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 71, doi. 10.1186/1471-2350-8-71

By:

Cooper, Jason D.;
Smyth, Deborah J.;
Bailey, Rebecca;
Payne, Felicity;
Downes, Kate;
Godfrey, Lisa M.;
Masters, Jennifer;
Zeitels, Lauren R.;
Vella, Adrian;
Walker, Neil M.;
Todd, John A.

Publication type:

Article

Prevalence of H63D, S65C and C282Y hereditary hemochromatosisgene mutations in Slovenian population by an improvedhigh-throughput genotyping assay.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 69, doi. 10.1186/1471-2350-8-69

By:

Cukjati, Marko;
Vaupotič, Tomaž;
Rupreht, Ruth;
Čurin-Šerbec, Vladka

Publication type:

Article

Mutation analysis of the NSD1 gene in patients with autismspectrum disorders and macrocephaly.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 68, doi. 10.1186/1471-2350-8-68

By:

Buxbaum, Joseph D.;
Cai, Guiqing;
Nygren, Gudrun;
Chaste, Pauline;
Delorme, Richard;
Goldsmith, Juliet;
Råstam, Maria;
Silverman, Jeremy M.;
Hollander, Eric;
Gillberg, Christopher;
Leboyer, Marion;
Betancur, Catalina

Publication type:

Article

Exploring the functional role of the CHRM2 gene in humancognition: results from a dense genotyping and brain expressionstudy.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 66, doi. 10.1186/1471-2350-8-66

By:

Gosso, Florencia M.;
de Geus, Eco J. C.;
Polderman, Tinca J. C.;
Boomsma, Dorret I.;
Posthuma, Danielle;
Heutink, Peter

Publication type:

Article

Metabolic phenotype of methylmalonic acidemia in mice andhumans: the role of skeletal muscle.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 64, doi. 10.1186/1471-2350-8-64

By:

Chandler, Randy J.;
Sloan, Jennifer;
Fu, Hong;
Tsai, Matthew;
Stabler, Sally;
Allen, Robert;
Kaestner, Klaus H.;
Kazazian, Haig H.;
Venditti, Charles P.

Publication type:

Article

The Framingham Heart Study, on its way to becoming the goldstandard for Cardiovascular Genetic Epidemiology?

Published in:

BMC Medical Genetics, 2007, v. 8, p. 63, doi. 10.1186/1471-2350-8-63

By:

Jaquish, Cashell E.

Publication type:

Article

Genome-wide association of sleep and circadian phenotypes.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S9, doi. 10.1186/1471-2350-8-S1-S9

By:

Gottlieb, Daniel J.;
O'Connor, George T.;
Wilk, Jemma B.

Publication type:

Article

Framingham Heart Study genome-wide association: results for pulmonary function measures.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S8, doi. 10.1186/1471-2350-8-S1-S8

By:

Wilk, Jemma B.;
Walter, Robert E.;
Laramie, Jason M.;
Gottlieb, Daniel J.;
O'Connor, George T.

Publication type:

Article

Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S7, doi. 10.1186/1471-2350-8-S1-S7

By:

Newton-Cheh, Christopher;
Chao-Yu Guo;
Wang, Thomas J.;
O'Donnell, Christopher J.;
Levy, Daniel;
Larson, Martin G.

Publication type:

Article

A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S6, doi. 10.1186/1471-2350-8-S1-S6

By:

Murabito, Joanne M.;
Rosenberg, Carol L.;
Finger, Daniel;
Kreger, Bernard E.;
Levy, Daniel;
Splansky, Greta Lee;
Antman, Karen;
Shih-Jen Hwang

Publication type:

Article

Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S5, doi. 10.1186/1471-2350-8-S1-S5

By:

Larson, Martin G.;
Atwood, Larry D.;
Benjamin, Emelia J.;
Cupples, L. Adrienne;
D'Agostino Sr., Ralph B.;
Fox, Caroline S.;
Govindaraju, Diddahally R.;
Chao-Yu Guo;
Heard-Costa, Nancy L.;
Shih-Jen Hwang;
Murabito, Joanne M.;
Newton-Cheh, Christopher;
O'Donnell, Christopher J.;
Seshadri, Sudha;
Vasan, Ramachandran S.;
Wang, Thomas J.;
Wolf, Philip A.;
Levy, Daniel

Publication type:

Article

Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S4, doi. 10.1186/1471-2350-8-S1-S4

By:

O'Donnell, Christopher J.;
Cupples, L. Adrienne;
D'Agostino, Ralph B.;
Fox, Caroline S.;
Hoffmann, Udo;
Shih-Jen Hwang;
Ingellson, Erik;
Chunyu Liu;
Murabito, Joanne M.;
Polak, Joseph F.;
Wolf, Philip A.;
Demissie, Serkalem

Publication type:

Article

Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S3, doi. 10.1186/1471-2350-8-S1-S3

By:

Levy, Daniel;
Larson, Martin G.;
Benjamin, Emelia J.;
Newton-Cheh, Christopher;
Wang, Thomas J.;
Shih-Jen Hwang;
Vasan, Ramachandran S.;
Mitchell, Gary F.

Publication type:

Article

Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S2, doi. 10.1186/1471-2350-8-S1-S2

By:

Vasan, Ramachandran S.;
Larson, Martin G.;
Aragam, Jayashri;
Wang, Thomas J.;
Mitchell, Gary F.;
Kathiresan, Sekar;
Newton-Cheh, Christopher;
Vita, Joseph A.;
Keyes, Michelle J.;
O'Donnell, Christopher J.;
Levy, Daniel;
Benjamin, Emelia J.

Publication type:

Article

Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

Published in:

BMC Medical Genetics, 2007, v. 8, p. S18, doi. 10.1186/1471-2350-8-S1-S18

By:

Fox, Caroline S.;
Heard-Costa, Nancy;
Cupples, L. Adrienne;
Dupuis, Josée;
Vasan, Ramachandran S.;
Atwood, Larry D.

Publication type:

Article