Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 1

Results: 16

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 145, doi. 10.1093/hmg/ddi019

By:

Maniatis, N.;
Morton, N.E.;
Gibson, J.;
Xu, C.-F.;
Hosking, L.K.;
Collins, A.

Publication type:

Article

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 171, doi. 10.1093/hmg/ddi018

By:

Pinto, Dalila;
Westland, Birgit;
de Haan, Gerrit-Jan;
Rudolf, Gabrielle;
da Silva, Berta Martins;
Hirsch, Edouard;
Lindhout, Dick;
Trenité, Dorothée G.A. Kasteleijn-Nolst;
Koeleman, Bobby P.C.

Publication type:

Article

Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 155, doi. 10.1093/hmg/ddi017

By:

Arimura, Takuro;
Helbling-Leclerc, Anne;
Massart, Catherine;
Varnous, Shaida;
Niel, Florence;
Lacène, Emmanuelle;
Fromes, Yves;
Toussaint, Marcel;
Mura, Anne-Marie;
Keller, Dagmar I.;
Amthor, Helge;
Isnard, Richard;
Malissen, Marie;
Schwartz, Ketty;
Bonne, Gisèle

Publication type:

Article

Genetic basis for individual variations in pain perception and the development of a chronic pain condition.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 135, doi. 10.1093/hmg/ddi013

By:

Diatchenko, Luda;
Slade, Gary D.;
Nackley, Andrea G.;
Bhalang, Konakporn;
Sigurdsson, Asgeir;
Belfer, Inna;
Goldman, David;
Xu, Ke;
Shabalina, Svetlana A.;
Shagin, Dmitry;
Max, Mitchell B.;
Makarov, Sergei S.;
Maixner, William

Publication type:

Article

Transgenic mouse model of early-onset DYT1 dystonia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 125, doi. 10.1093/hmg/ddi012

By:

Shashidharan, P.;
Sandu, D.;
Potla, U.;
Armata, I.A.;
Walker, R.H.;
McNaught, K.S.;
Weisz, D.;
Sreenath, T.;
Brin, M.F.;
Olanow, C.W.

Publication type:

Article

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 113, doi. 10.1093/hmg/ddi011

By:

Keegan, Catherine E.;
Hutz, Janna E.;
Else, Tobias;
Adamska, Maja;
Shah, Sonalee P.;
Kent, Amy E.;
Howes, John M.;
Beamer, Wesley G.;
Hammer, Gary D.

Publication type:

Article

Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 103, doi. 10.1093/hmg/ddi010

By:

Zheng, Qing Yin;
Yan, Denise;
Ouyang, Xiao Mei;
Du, Li Lin;
Yu, Heping;
Chang, Bo;
Johnson, Kenneth R.;
Liu, Xue Zhong

Publication type:

Article

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 95, doi. 10.1093/hmg/ddi009

By:

Liu, Jie;
Nealon, Julie G.;
Weinstein, Lee S.

Publication type:

Article

Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 85, doi. 10.1093/hmg/ddi008

By:

Chueh, Anderly C.;
Wong, Lee H.;
Wong, Nicholas;
Choo, K.H. Andy

Publication type:

Article

Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 71, doi. 10.1093/hmg/ddi007

By:

Moore, Darren J.;
Zhang, Li;
Troncoso, Juan;
Lee, Michael K.;
Hattori, Nobutaka;
Mizuno, Yoshikuni;
Dawson, Ted M.;
Dawson, Valina L.

Publication type:

Article

Comprehensive identification and characterization of diallelic insertion–deletion polymorphisms in 330 human candidate genes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 59, doi. 10.1093/hmg/ddi006

By:

Bhangale, Tushar R.;
Rieder, Mark J.;
Livingston, Robert J.;
Nickerson, Deborah A.

Publication type:

Article

Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 49, doi. 10.1093/hmg/ddi005

By:

Kuo, Yien-Ming;
Duncan, Jacque L.;
Westaway, Shawn K.;
Yang, Haidong;
Nune, George;
Xu, Eugene Yujun;
Hayflick, Susan J.;
Gitschier, Jane

Publication type:

Article

Orexin loss in Huntington's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 39

By:

Petersén, Åsa;
Gil, Joana;
Maat-Schieman, Marion L.C.;
Björkqvist, Maria;
Tanila, Heikki;
Araújo, Inês M.;
Smith, Ruben;
Popovic, Natalija;
Wierup, Nils;
Norlén, Per;
Li, Jia-Yi;
Roos, Raymund A.C.;
Sundler, Frank;
Mulder, Hindrik;
Brundin, Patrik

Publication type:

Article

The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 19, doi. 10.1093/hmg/ddi003

By:

Reid, Evan;
Connell, James;
Edwards, Thomas L.;
Duley, Simon;
Brown, Stephanie E.;
Sanderson, Christopher M.

Publication type:

Article

Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 7, doi. 10.1093/hmg/ddi002

By:

Manh, Thien Phong Vu;
Mokrane, Mustapha;
Georgenthum, Emmanuelle;
Flavigny, Jeanne;
Carrier, Lucie;
Sémériva, Michel;
Piovant, Michel;
Röder, Laurence

Publication type:

Article

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 1, p. 1, doi. 10.1093/hmg/ddi001

By:

Duchatelet, Sabine;
Ostergaard, Elsebet;
Cortes, Dina;
Lemainque, Arnaud;
Julier, Cécile

Publication type:

Article