Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 18

Results: 15

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2293, doi. 10.1093/hmg/ddg254

By:

Hoki, Yuko;
Araki, Ryoko;
Fujimori, Akira;
Ohhata, Tatsuya;
Koseki, Haruhiko;
Fukumura, Ryutaro;
Nakamura, Miki;
Takahashi, Hirokazu;
Noda, Yuko;
Kito, Seiji;
Abe, Masumi

Publication type:

Article

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2359, doi. 10.1093/hmg/ddg253

By:

Ganesh, Subramaniam;
Tsurutani, Naomi;
Suzuki, Toshimitsu;
Ueda, Kazunori;
Agarwala, Kishan Lal;
Osada, Hiroyuki;
Delgado-Escueta, Antonio V.;
Yamakawa, Kazuhiro

Publication type:

Article

Functional analysis of human promoter polymorphisms.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2249, doi. 10.1093/hmg/ddg246

By:

Hoogendoorn, Bastiaan;
Coleman, Sharon L.;
Guy, Carol A.;
Smith, Kaye;
Bowen, Tim;
Buckland, Paul R.;
O'Donovan, Michael C.

Publication type:

Article

The HLA class III subregion is responsible for an increased breast cancer risk.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2311, doi. 10.1093/hmg/ddg245

By:

de Jong, Mirjam M.;
Nolte, Ilja M.;
de Vries, Elisabeth G. E.;
Schaapveld, Michael;
Kleibeuker, Jan H.;
Oosterom, Elvira;
Oosterwijk, Jan C.;
van der Hout, Annemarie H.;
van der Steege, Gerrit;
Bruinenberg, Marcel;
Boezen, H. Marike;
te Meerman, Gerard J.;
van der Graaf, Winette T. A.

Publication type:

Article

Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2333, doi. 10.1093/hmg/ddg244

By:

Olds, Lynne C.;
Sibley, Eric

Publication type:

Article

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2341, doi. 10.1093/hmg/ddg238

By:

Temperley, Richard J.;
Seneca, Sara H.;
Tonska, Katarzyna;
Bartnik, Ewa;
Bindoff, Laurence A.;
Lightowlers, Robert N.;
Chrzanowska-Lightowlers, Zofia M.A.

Publication type:

Article

DNA damage induced by polyglutamine-expanded proteins.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2301, doi. 10.1093/hmg/ddg242

By:

Giuliano, Paola;
de Cristofaro, Tiziana;
Affaitati, Adelina;
Pizzulo, Grazia M.;
Feliciello, Antonio;
Criscuolo, Chiara;
De Michele, Giuseppe;
Filla, Alessandro;
Avvedimento, Enrico V.;
Varrone, Stelio

Publication type:

Article

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2269, doi. 10.1093/hmg/ddg241

By:

Hutchinson, Sarah;
Furger, Andre;
Halliday, Dorothy;
Judge, Daniel P.;
Jefferson, Andrew;
Dietz, Harry C.;
Firth, Helen;
Handford, Penny A.

Publication type:

Article

Murine Denys–Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2379, doi. 10.1093/hmg/ddg240

By:

Patek, Charles E.;
Fleming, Stewart;
Miles, Colin G.;
Bellamy, Christopher O.;
Ladomery, Michael;
Spraggon, Lee;
Mullins, John;
Hastie, Nicholas D.;
Hooper, Martin L.

Publication type:

Article

An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2395, doi. 10.1093/hmg/ddg234

By:

McLean, W. H. Irwin;
Irvine, Alan D.;
Hamill, Kevin J.;
Whittock, Neil V.;
Coleman-Campbell, Carrie M.;
Mellerio, Jemima E.;
Ashton, Gabrielle S.;
Dopping-Hepenstal, Patricia J. H.;
Eady, Robin A. J.;
Jamil, Tanvir;
Phillips, Rodney J.;
Shabbir, S. Ghulam;
Haroon, Tahir S.;
Khurshid, Khawar;
Moore, Jonathan E.;
Page, Brian;
Darling, Jonathan;
Atherton, David J.;
van Steensel, Maurice A. M.;
Munro, Colin S.

Publication type:

Article

A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2321, doi. 10.1093/hmg/ddg243

By:

Lee, Ji Hyun;
Choi, Ji Ha;
Namkung, Wan;
Hanrahan, John W.;
Chang, Joon;
Song, Si Young;
Park, Seung Woo;
Kim, Dong Soo;
Yoon, Joo-Heon;
Suh, Yousin;
Jang, In-Jin;
Nam, Joo Hyun;
Kim, Sung Joon;
Cho, Mi-Ook;
Lee, Jong-Eun;
Kim, Kyung Hwan;
Lee, Min Goo

Publication type:

Article

Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2349, doi. 10.1093/hmg/ddg237

By:

Storlazzi, Clelia Tiziana;
Mertens, Fredrik;
Nascimento, Antonio;
Isaksson, Margareth;
Wejde, Johan;
Brosjö, Otte;
Mandahl, Nils;
Panagopoulos, Ioannis

Publication type:

Article

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2255, doi. 10.1093/hmg/ddg236

By:

Brites, Pedro;
Motley, Alison M.;
Gressens, Pierre;
Mooyer, Petra A.W.;
Ploegaert, Ingrid;
Everts, Vincent;
Evrard, Philippe;
Carmeliet, Peter;
Dewerchin, Mieke;
Schoonjans, Luc;
Duran, Marinus;
Waterham, Hans R.;
Wanders, Ronald J.A.;
Baes, Myriam

Publication type:

Article

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2369, doi. 10.1093/hmg/ddg235

By:

Lefèvre, Caroline;
Audebert, Stéphanie;
Jobard, Florence;
Bouadjar, Bakar;
Lakhdar, Hakima;
Boughdene-Stambouli, Omar;
Blanchet-Bardon, Claudine;
Heilig, Roland;
Foglio, Mario;
Weissenbach, Jean;
Lathrop, Mark;
Prud'homme, Jean-François;
Fischer, Judith

Publication type:

Article

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 18, p. 2277, doi. 10.1093/hmg/ddg239

By:

Itier, Jean-Michel;
Ibáñez, Pablo;
Mena, María Angeles;
Abbas, Nacer;
Cohen-Salmon, Charles;
Bohme, Georg Andrees;
Laville, Michel;
Pratt, Jeremy;
Corti, Olga;
Pradier, Laurent;
Ret, Gwénäelle;
Joubert, Chantal;
Periquet, Magali;
Araujo, Francisco;
Negroni, Julia;
Casarejos, María José;
Canals, Santiago;
Solano, Rosa;
Serrano, Alba;
Gallego, Eva

Publication type:

Article