Works matching IS 14712350 AND DT 2006 AND VI 7

Results: 86

Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 86, doi. 10.1186/1471-2350-7-86
Publication type:: Article

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 77, doi. 10.1186/1471-2350-7-77
Publication type:: Article

Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 75, doi. 10.1186/1471-2350-7-75
Publication type:: Article

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

Published in:: BMC Medical Genetics, 2006, v. 7, p. 69, doi. 10.1186/1471-2350-7-69
Publication type:: Article

Association of surfactant protein A polymorphisms with otitis media in infants at risk for asthma.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 68, doi. 10.1186/1471-2350-7-68
Publication type:: Article

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 61, doi. 10.1186/1471-2350-7-61
Publication type:: Article

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 59, doi. 10.1186/1471-2350-7-59
Publication type:: Article

N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 58, doi. 10.1186/1471-2350-7-58
Publication type:: Article

β3-adrenergic receptor gene, body mass index, bone mineral density and fracture risk in elderly men and women: the Dubbo Osteoporosis Epidemiology Study (DOES).

Published in:: BMC Medical Genetics, 2006, v. 7, p. 57, doi. 10.1186/1471-2350-7-57
Publication type:: Article

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Published in:: BMC Medical Genetics, 2006, v. 7, p. 53, doi. 10.1186/1471-2350-7-53
Publication type:: Article

Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 43, doi. 10.1186/1471-2350-7-43
Publication type:: Article

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 41, doi. 10.1186/1471-2350-7-41
Publication type:: Article

Deletions in the Y-derived amelogenin gene fragment in the Indian population.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 37, doi. 10.1186/1471-2350-7-37
Publication type:: Article

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 35, doi. 10.1186/1471-2350-7-35
Publication type:: Article

GAIA: An easy-to-use web-based application for interaction analysis of case-control data.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 34, doi. 10.1186/1471-2350-7-34
Publication type:: Article

N-acetyltransferase 2 (NAT2) gene polymorphisms in Parkinson's disease.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 30, doi. 10.1186/1471-2350-7-30
Publication type:: Article

Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 24, doi. 10.1186/1471-2350-7-24
Publication type:: Article

Evidence for a gene influencing heart rate on chromosome 5p13-14 in a meta-analysis of genome-wide scans from the NHLBI Family Blood Pressure Program.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 17, doi. 10.1186/1471-2350-7-17
Publication type:: Article

Multilevel analysis of systolic blood pressure and ACE gene I/D polymorphism in 438 Swedish families--a public health perspective.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 14, doi. 10.1186/1471-2350-7-14
Publication type:: Article

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 13, doi. 10.1186/1471-2350-7-13
Publication type:: Article

Gene expression profiles in Finnish twins with multiple sclerosis.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 11, doi. 10.1186/1471-2350-7-11
Publication type:: Article

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).

Published in:: BMC Medical Genetics, 2006, v. 7, p. 8, doi. 10.1186/1471-2350-7-8
Publication type:: Article

The GCC repeat length in the 5'UTR of MRP1 gene is polymorphic: a functional characterization of its relevance for cystic fibrosis.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 7, doi. 10.1186/1471-2350-7-7
Publication type:: Article

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Published in:: BMC Medical Genetics, 2006, v. 7, p. 6, doi. 10.1186/1471-2350-7-6
Publication type:: Article

β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 85, doi. 10.1186/1471-2350-7-85

By:

Pinelli, Michele;
Giacchetti, Manuela;
Acquaviva, Fabio;
Cocozza, Sergio;
Donnarumma, Giovanna;
Lapice, Emanuela;
Riccardi, Gabriele;
Romano, Geremia;
Vaccaro, Olga;
Monticelli, Antonella

Publication type:

Article

A novel mutation in the SH3BP2 gene causes cherubism: case report.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 84, doi. 10.1186/1471-2350-7-84

By:

Cui-Ying Li;
Shi-Feng Yu

Publication type:

Article

INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 83, doi. 10.1186/1471-2350-7-83

By:

Hall, Darroch H;
Rahman, Thahira;
Avery, Peter J;
Bernard Keavney

Publication type:

Article

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-82

By:

de la Houssaye, Guillaume;
Bieche, Ivan;
Roche, Olivier;
Vieira, Véronique;
Laurendeau, Ingrid;
Arbogast, Laurence;
Zeghidi, Hatem;
Rapp, Philippe;
Halimi, Philippe;
Vidaud, Michel;
Dufier, Jean-Louis;
Menasche, Maurice;
Abitbol, Marc

Publication type:

Article

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 81, doi. 10.1186/1471-2350-7-81

By:

King, Caitriona;
Barton, David E

Publication type:

Article

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-80

By:

Lind, Lisbet K;
Stecksén-Blicks, Christina;
Lejon, Kristina;
Schmitt-Egenolf, Marcus

Publication type:

Article

No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-79

By:

Mai, Maren;
Akkad, Amer D;
Wieczorek, Stefan;
Saft, Carsten;
Andrich, Jürgen;
Kraus, Peter H;
Epplen, Jörg T;
Arning, Larissa

Publication type:

Article

Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-78

By:

Dutra, Ana VC;
Hsiu-Fen Lin;
Suh-Hang H Juo;
Mohrenweiser, Harvey;
Sen, Souvik;
Grewal, Raji P

Publication type:

Article

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-76

By:

Chandak, Giriraj R;
Ward, Kirsten J;
Yajnik, Chittaranjan S;
Pandit, Anand N;
Bavdekar, Ashish;
Joglekar, Charu V;
Fall, Caroline HD;
Mohankrishna, P;
Wilkin, Terence J;
Metcalf, Bradley S;
Weedon, Michael N;
Frayling, Timothy M;
Hattersley, Andrew T

Publication type:

Article

Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 74, doi. 10.1186/1471-2350-7-74

By:

Smith, Blair H;
Campbell, Harry;
Blackwood, Douglas;
Connell, John;
Connor, Mike;
Deary, Ian J;
Dominiczak, Anna F;
Fitzpatrick, Bridie;
Ford, Ian;
Jackson, Cathy;
Haddow, Gillian;
Kerr, Shona;
Lindsay, Robert;
McGilchrist, Mark;
Morton, Robin;
Murray, Graeme;
Palmer, Colin NA;
Pell, Jill P;
Ralston, Stuart H;
St Clair, David

Publication type:

Article

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-73

By:

Thakur, Nikita;
D Nageshwar Reddy;
G Venkat Rao;
Mohankrishna, P;
Singh, Lalji;
Chandak, Giriraj R

Publication type:

Article

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 72, doi. 10.1186/1471-2350-7-72

By:

Chia-Cheng Hung;
Yi-Ning Su;
Shu-Chin Chien;
Horng-Huei Liou;
Chih-Chuan Chen;
Pau-Chung Chen;
Chia-Jung Hsieh;
Chih-Ping Chen;
Wang-Tso Lee;
Win-Li Lin;
Chien-Nan Lee

Publication type:

Article

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 71, doi. 10.1186/1471-2350-7-71

By:

Jian-Liang Li;
Hayden, Michael R;
Warby, Simon C;
Durr, Alexandra;
Morrison, Patrick J;
Nance, Martha;
Ross, Christopher A;
Margolis, Russell L;
Rosenblatt, Adam;
Squitieri, Ferdinando;
Frati, Luigi;
Gómez-Tortosa, Estrella;
Ayuso Garcóa, Carmen;
Suchowersky, Oksana;
Klimek, Mary Lou;
Trent, Ronald JA;
McCusker, Elizabeth;
Novelletto, Andrea;
Frontali, Marina;
Paulsen, Jane S

Publication type:

Article

Potassium channel gene mutations rarely cause atrial fibrillation.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 70, doi. 10.1186/1471-2350-7-70

By:

Ellinor, Patrick T;
Petrov-Kondratov, Vadim I;
Zakharova, Elena;
Nam, Edwin G;
MacRae, Calum A

Publication type:

Article

Evidence for association between the HLA-DQA locus and abdominal aortic aneurysms in the Belgian population: a case control study.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 67, doi. 10.1186/1471-2350-7-67

By:

Ogata, Toru;
Gregoire, Lucie;
Goddard, Katrina AB;
Skunca, Magdalena;
Tromp, Gerard;
Lancaster, Wayne D;
Parrado, Antonio R;
Qing Lu;
Shibamura, Hidenori;
Sakalihasan, Natzi;
Limet, Raymond;
MacKean, Gerald L;
Arthur, Claudette;
Sueda, Taijiro;
Kuivaniemi, Helena

Publication type:

Article

The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-66

By:

Evans, David;
Beil, Frank U

Publication type:

Article

Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 65, doi. 10.1186/1471-2350-7-65

By:

Horan, Paul G;
Allen, Adrian R;
Hughes, Anne E;
Patterson, Chris C;
Spence, Mark;
McGlinchey, Paul G;
Belton, Christine;
Jardine, Tracy CL;
McKeown, Pascal P

Publication type:

Article

An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 64, doi. 10.1186/1471-2350-7-64

By:

Bugeja, Matthew J;
Booth, David;
Bennetts, Bruce;
Heard, Robert;
Rubio, Justin;
Stewart, Graeme

Publication type:

Article

Three allele combinations associated with Multiple Sclerosis.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 63, doi. 10.1186/1471-2350-7-63

By:

Favorova, Olga O;
Favorov, Alexander V;
Boiko, Alexey N;
Andreewski, Timofey V;
Sudomoina, Marina A;
Alekseenkov, Alexey D;
Kulakova, Olga G;
Gusev, Eugenyi I;
Parmigiani, Giovanni;
Ochs, Michael F

Publication type:

Article

Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 62, doi. 10.1186/1471-2350-7-62

By:

Elbein, Steven C;
Xiaoqin Wang;
Karim, Mohammad A;
Chu, Winston S;
Silver, Kristi D

Publication type:

Article

Familial deletion 18p syndrome: case report.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 60, doi. 10.1186/1471-2350-7-60

By:

Maranda, Bruno;
Lemieux, Nicole;
Lemyre, Emmanuelle

Publication type:

Article

Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 56, doi. 10.1186/1471-2350-7-56

By:

Ortiz, Javier;
Fernández-Arquero, Miguel;
Urcelay, Elena;
Lôpez-Mejías, Raquel;
Ferreira, Antonio;
Fontán, Gumersindo;
de la Concha, Emilio G;
Martínez, Alfonso

Publication type:

Article

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 55, doi. 10.1186/1471-2350-7-55

By:

Nissen, Peter H;
Damgaard, Dorte;
Stenderup, Anette;
Nielsen, Gitte G;
Larsen, Mogens L;
Færgeman, Ole

Publication type:

Article

Evidence for the association of the SLC22A4 and SLC22A5 genes with Type 1 Diabetes: a case control study.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-54

By:

Santiago, Jose Luis;
Martínez, Alfonso;
de la Calle, Hermenegildo;
Fernández-Arquero, Miguel;
Figueredo, M Ángeles;
de la Concha, Emilio G;
Urcelay, Elena

Publication type:

Article

E-selectin S128R polymorphism and severe coronary artery disease in Arabs.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 52, doi. 10.1186/1471-2350-7-52

By:

Abu-Amero, Khaled K;
Al-Boudari, Olayan M;
Mohamed, Gamal H;
Dzimiri, Nduna

Publication type:

Article

The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.

Published in:

BMC Medical Genetics, 2006, v. 7, p. 1, doi. 10.1186/1471-2350-7-51

By:

Freathy, Rachel M;
Weedon, Michael N;
Melzer, David;
Shields, Beverley;
Hitman, Graham A;
Walker, Mark;
McCarthy, Mark I;
Hattersley, Andrew T;
Frayling, Timothy M

Publication type:

Article