Works matching IS 14712350 AND DT 2005 AND VI 6

Results: 43

The host response to the probiotic Escherichia coli strain Nissle 1917: Specific up-regulation of the proinflammatory chemokine MCP-1.

Published in:: BMC Medical Genetics, 2005, v. 6, p. 43, doi. 10.1186/1471-2350-6-43
Publication type:: Article

Genetic, household and spatial clustering of leprosy on an island in Indonesia: a population-based study.

Published in:: BMC Medical Genetics, 2005, v. 6, p. 40, doi. 10.1186/1471-2350-6-40
Publication type:: Article

Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.

Published in:: BMC Medical Genetics, 2005, v. 6, p. 36, doi. 10.1186/1471-2350-6-36
Publication type:: Article

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-42

By:

Bento, Jennifer L;
Bowden, Donald W;
Mychaleckyj, Josyf C;
Hirakawa, Shohei;
Rich, Stephen S;
Freedman, Barry I;
Segade, Fernando

Publication type:

Article

Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-41

By:

Dolan, Ciara;
Shields, Denis C;
Stanton, Alice;
O'Brien, Eoin;
Lambert, Deborah M;
O'Brien, John K;
Treacy, Eileen P

Publication type:

Article

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 39, doi. 10.1186/1471-2350-6-39

By:

Bayley, Jean-Pierre;
Devilee, Peter;
Taschner, Peter EM

Publication type:

Article

Aging syndrome genes and premature coronary artery disease.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 38, doi. 10.1186/1471-2350-6-38

By:

Low, Adrian F;
O'Donnell, Christopher J;
Kathiresan, Sekar;
Everett, Brendan;
Chae, Claudia U;
Shaw, Stanley Y;
Ellinor, Patrick T;
MacRae, Calum A

Publication type:

Article

Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 37, doi. 10.1186/1471-2350-6-37

By:

Karim, Mohammad A;
Wang, Xiaoqin;
Hale, Terri C;
Elbein, Steven C

Publication type:

Article

Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD).

Published in:

BMC Medical Genetics, 2005, v. 6, p. 35, doi. 10.1186/1471-2350-6-35

By:

Arning, Larissa;
Kraus, Peter H;
Saft, Carsten;
Andrich, Jurgen;
Epplen, Jorg T

Publication type:

Article

Evaluation of the toll-like receptor 6 Ser249Pro polymorphism in patients with asthma, atopic dermatitis and chronic obstructive pulmonary disease.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 34, doi. 10.1186/1471-2350-6-34

By:

Hoffjan, Sabine;
Stemmler, Susanne;
Parwez, Qumar;
Petrasch-Parwez, Elisabeth;
Arinir, Umut;
Rohde, Gernot;
Reinitz-Rademacher, Karin;
Schultze-Werninghaus, Gerhard;
Bufe, Albrecht;
Epplen, Jorg T

Publication type:

Article

Cell cycle and centromere FISH studies in premature centromere division.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 33, doi. 10.1186/1471-2350-6-33

By:

Corona-Rivera, Alfredo;
Salamanca-Gomez, Fabio;
Bobadilla-Morales, Lucina;
Corona-Rivera, Jorge R;
Palomino-Cueva, Cesar;
Garcia-Cobian, Teresa A;
Corona-Rivera, Enrique

Publication type:

Article

Association analysis of a highly polymorphic CAG Repeat in the human potassium channel gene KCNN3 and migraine susceptibility.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-32

By:

Curtain, Robert;
Sundholm, James;
Lea, Rod;
Ovcaric, Mick;
MacMillan, John;
Griffiths, Lyn

Publication type:

Article

No evidence for the association of DRD4 with ADHD in a Taiwanese population within-family study.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 31, doi. 10.1186/1471-2350-6-31

By:

Brookes, Keeley-Joanne;
Xiaohui Xu;
Chih-Ken Chen;
Yu-Shu Huang;
Yu-Yu Wu;
Asherson, Philip

Publication type:

Article

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-30

By:

Hsiao-Yuan Tang;
Anping Xia;
Oghalai, John S;
Pereira, Fred A;
Alford, Raye L

Publication type:

Article

Association study of functional genetic variants of innate immunity related genes in celiac disease.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 29, doi. 10.1186/1471-2350-6-29

By:

Rueda, B;
Zhernakova, A;
Lopez-Nevot, MA;
Martin, J;
Koeleman, BPC

Publication type:

Article

Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: Case report.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 28, doi. 10.1186/1471-2350-6-28

By:

Shah, Maulik;
Bogucki, Brian;
Mavers, Melissa;
deMello, Daphne E;
Knutsen, Alan

Publication type:

Article

Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln<sub>49</sub> TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-27

By:

Zuhlke, Christine;
Dalski, Andreas;
Schwinger, Eberhard;
Finckh, Ulrich

Publication type:

Article

Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-26

By:

Latimer, Jean J;
Rubinstein, Wendy S;
Johnson, Jennifer M;
Kanbour-Shakir, Amal;
Vogel, Victor G;
Grant, Stephen G

Publication type:

Article

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 25, doi. 10.1186/1471-2350-6-25

By:

Chun-An Chen;
Nelson LS Tang;
Yin-Hsiu Chien;
Wei-Min Zhang;
Jou-Kou Wang;
Wuh-Liang Hwu

Publication type:

Article

Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-24

By:

Scotet, Virginie;
Gac, Gerald Le;
Merour, Marie-Christine;
Mercier, Anne-Yvonne;
Chanu, Brigitte;
Ka, Chandran;
Mura, Catherine;
Nousbaum, Jean-Baptiste;
Ferec, Claude

Publication type:

Article

Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 23, doi. 10.1186/1471-2350-6-23

By:

Schnakenberg, Eckart;
Mehles, Andrea;
Cario, Gunnar;
Rehe, Klaus;
Seidemann, Kathrin;
Schlegelberger, Brigitte;
Elsner, Holger A;
Welte, Karl H;
Schrappe, Martin;
Stanulla, Martin

Publication type:

Article

SMN1 dosage analysis in spinal muscular atrophy from India.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-22

By:

Kesari, Akanchha;
Rennert, Hanna;
Leonard, Debra GB;
Mittal, Balraj

Publication type:

Article

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 21, doi. 10.1186/1471-2350-6-21

By:

Marie Sogaard;
Zeynep Tumer;
Helle Hjalgrim;
Johanne Hahnemann;
Birgitte Friis;
Paal Ledaal;
Vibeke Faurholt Pedersen;
Peter Baekgaard;
Niels Tommerup;
Sultan Cingoz;
Morten Duno;
Karen Brondum-Nielsen

Publication type:

Article

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-20

By:

Muncke, Nadja;
Niesler, Beate;
Roeth, Ralph;
Schon, Karin;
Rudiger, Heinz-Juergen;
Goldmuntz, Elizabeth;
Goodship, Judith;
Rappold, Gudrun

Publication type:

Article

CYP3A4 and CYP3A5 genotyping by Pyrosequencing.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-19

By:

Garsa, Adam A;
McLeod, Howard L;
Marsh, Sharon

Publication type:

Article

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 18, doi. 10.1186/1471-2350-6-18

By:

Schile, Birgitt;
Albalwi, Mohammed;
Northrop, Emma;
Francis, David I;
Rowell, Margaret;
Slater, Howard R;
Gardner, RJ McKinlay;
Francke, Uta

Publication type:

Article

The Familial Intracranial Aneurysm (FIA) study protocol.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 17, doi. 10.1186/1471-2350-6-17

By:

Broderick, Joseph P;
Sauerbeck, Laura R;
Foroud, Tatiana;
Huston III, John;
Pankratz, Nathan;
Meissner, Irene;
Brown Jr, Robert D

Publication type:

Article

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 16, doi. 10.1186/1471-2350-6-16

By:

Stepp, Monica L;
Cason, A Lauren;
Finnis, Merran;
Mangelsdorf, Marie;
Holinski-Feder, Elke;
Macgregor, David;
MacMillan, Andree;
Holden, Jeanette JA;
Gecz, Jozef;
Stevenson, Roger E;
Schwartz, Charles E

Publication type:

Article

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 15, doi. 10.1186/1471-2350-6-15

By:

Dorte Damgaard;
Peter H Nissen;
Lillian G Jensen;
Gitte G Nielsen;
Anette Stenderup;
Mogens L Larsen;
Ole Faergeman

Publication type:

Article

Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-14

By:

Lai, Te-Jen;
Wu, Chia-Yen;
Tsai, Hsu-Wen;
Lin, Yi-Mei J;
Sun, H Sunny

Publication type:

Article

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 13, doi. 10.1186/1471-2350-6-13

By:

Ma, Shaochun;
Abou-Khalil, Bassel;
Sutcliffe, James S;
Haines, Jonathan L;
Hedera, Peter

Publication type:

Article

First molecular screening of deafness in the Altai Republic population.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 12, doi. 10.1186/1471-2350-6-12

By:

Posukh, Olga;
Pallares-Ruiz, Nathalie;
Tadinova, Vera;
Osipova, Ludmila;
Claustres, Mireille;
Roux, Anne-Francoise

Publication type:

Article

Implication of the Pro12Ala polymorphism of the PPAR-gamma 2 gene in type 2 diabetes and obesity in the French population.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-11

By:

Maya Ghoussaini;
David Meyre;
Stephane Lobbens;
Guillaume Charpentier;
Karine Clement;
Marie-Aline Charles;
Maite Tauber;
Jacques Weill;
Philippe Froguel

Publication type:

Article

Evaluation of SLC11A1 as an inflammatory bowel disease candidate gene.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-10

By:

Nigel PS Crawford;
Maurice R Eichenberger;
Daniel W Colliver;
Robert K Lewis;
Gary A Cobbs;
Robert E Petras;
Susan Galandiuk

Publication type:

Article

Association between a variation in the phosphodiesterase 4D gene and bone mineral density.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 9, doi. 10.1186/1471-2350-6-9

By:

Reneland, Richard H;
Mah, Steven;
Kammerer, Stefan;
Hoyal, Carolyn R.;
Marnellos, George;
Wilson, Scott G.;
Sambrook, Philip N.;
Spector, Tim D.;
Nelson, Matthew R.;
Braun, Andreas

Publication type:

Article

SNP genotyping to screen for a common deletion in CHARGE Syndrome.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 8, doi. 10.1186/1471-2350-6-8

By:

Lalani, Seema R.;
Safiullah, Arsalan M.;
Fernbach, Susan D.;
Phillips, Michael;
Bacino, Carlos A.;
Molinari, Laura M.;
Glass, Nancy L.;
Towbin, Jeffrey A.;
Craigen, William J.;
Belmont, John W.

Publication type:

Article

Theories of schizophrenia: a genetic-inflammatory-vascular synthesis.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 7, doi. 10.1186/1471-2350-6-7

By:

Hanson, Daniel R.;
Gottesman, Irving I.

Publication type:

Article

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 6, doi. 10.1186/1471-2350-6-6

By:

Zakharova, Faina M.;
Damgaard, Dorte;
Mandelshtam, Michail Y.;
Golubkov, Valery I.;
Nissen, Peter H.;
Nilsen, Gitte G.;
Stenderup, Anette;
Lipovetsky, Boris M.;
Konstantinov, Vladimir O.;
Denisenko, Alexander D.;
Vasilyev, Vadim B.;
Faergeman, Ole

Publication type:

Article

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-5

By:

Calado, Joaquim;
Gaspar, Augusta;
Clemente, Carla;
Rueff, Jose

Publication type:

Article

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 4, doi. 10.1186/1471-2350-6-4

By:

Hannila-Handelberg, Tuula;
Kontula, Kimmo;
Tikkanen, Ilkka;
Tikkanen, Tuula;
Fyhrquist, Frej;
Helin, Karri;
Fodstad, Heidi;
Piippo, Kirsi;
Miettinen, Helena E.;
Virtamo, Jarmo;
Krusius, Tom;
Sarna, Seppo;
Gautschi, Ivan;
Schild, Laurent;
Hiltunen, Timo P.

Publication type:

Article

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 3, doi. 10.1186/1471-2350-6-3

By:

Reddy, Kavita S.

Publication type:

Article

Neural progenitor cells from an adult patient with fragile X syndrome.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 2, doi. 10.1186/1471-2350-6-2

By:

Schwartz, Philip H.;
Tassone, Flora;
Greco, Claudia M.;
Nethercott, Hubert E.;
Ziaeian, Boback;
Hagerman, Randi J.;
Hagerman, Paul J.

Publication type:

Article

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-1

By:

McCauley, Jacob L.;
Li, Chun;
Jiang, Lan;
Olson, Lana M.;
Crockett, Genea;
Gainer, Kimberly;
Folstein, Susan E.;
Haines, Jonathan L.;
Sutcliffe, James S.

Publication type:

Article