Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 22

Results: 15

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2727, doi. 10.1093/hmg/ddh311

By:

Nasonkin, Igor O.;
Ward, Robert D.;
Raetzman, Lori T.;
Seasholtz, Audrey F.;
Saunders, Thomas L.;
Gillespie, Patrick J.;
Camper, Sally A.

Publication type:

Article

Evidence and characteristics of putative human α recombination hotspots.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2823, doi. 10.1093/hmg/ddh310

By:

Zhang, Jing;
Li, Fei;
Li, Jun;
Zhang, Michael Q.;
Zhang, Xuegong

Publication type:

Article

The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2781, doi. 10.1093/hmg/ddh309

By:

Cariboni, Anna;
Pimpinelli, Federica;
Colamarino, Sophia;
Zaninetti, Roberta;
Piccolella, Margherita;
Rumio, Cristiano;
Piva, Flavio;
Rugarli, Elena I.;
Maggi, Roberto

Publication type:

Article

Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2863, doi. 10.1093/hmg/ddh308

By:

Beatham, Jane;
Romero, Rosario;
Townsend, Stuart K.M.;
Hacker, Terry;
van der Ven, Peter F.M.;
Blanco, Gonzalo

Publication type:

Article

Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2813, doi. 10.1093/hmg/ddh307

By:

Elso, Colleen M.;
Lu, Xiaochen;
Culiat, Cymbeline T.;
Rutledge, Joe C.;
Cacheiro, Nestor L.A.;
Generoso, Walderico M.;
Stubbs, Lisa J.

Publication type:

Article

Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2841, doi. 10.1093/hmg/ddh306

By:

Innis, Jeffrey W.;
Mortlock, Douglas;
Chen, Zhi;
Ludwig, Michael;
Williams, Melissa E.;
Williams, Thomas M.;
Doyle, Colleen D.;
Shao, Zhihong;
Glynn, Michael;
Mikulic, Davor;
Lehmann, Katarina;
Mundlos, Stefan;
Utsch, Boris

Publication type:

Article

The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2853, doi. 10.1093/hmg/ddh305

By:

De Repentigny, Yves;
Marshall, Philip;
Worton, Ronald G.;
Kothary, Rashmi

Publication type:

Article

The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2829, doi. 10.1093/hmg/ddh304

By:

Kelly, Robert G.;
Jerome-Majewska, Loydie A.;
Papaioannou, Virginia E.

Publication type:

Article

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2793, doi. 10.1093/hmg/ddh303

By:

van Kuilenburg, André B.P.;
Meinsma, Rutger;
Beke, Eva;
Assmann, Birgit;
Ribes, Antonia;
Lorente, Isabel;
Busch, Rebekka;
Mayatepek, Ertan;
Abeling, Nico G.G.M.;
van Cruchten, Arno;
Stroomer, Alida E.M.;
van Lenthe, Henk;
Zoetekouw, Lida;
Kulik, Willem;
Hoffmann, Georg F.;
Voit, Thomas;
Wevers, Ron A.;
Rutsch, Frank;
van Gennip, Albert H.

Publication type:

Article

Defective recombination in infertile men.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2875, doi. 10.1093/hmg/ddh302

By:

Gonsalves, Joanna;
Sun, Fei;
Schlegel, Peter N.;
Turek, Paul J.;
Hopps, Carin V.;
Greene, Calvin;
Martin, Renee H.;
Pera, Renee A. Reijo

Publication type:

Article

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2737, doi. 10.1093/hmg/ddh301

By:

Pavlicek, Adam;
Noskov, Vladimir N.;
Kouprina, Natalay;
Barrett, J. Carl;
Jurka, Jerzy;
Larionov, Vladimir

Publication type:

Article

l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2803, doi. 10.1093/hmg/ddh300

By:

Topçu, Meral;
Jobard, Florence;
Halliez, Sophie;
Coskun, Turgay;
Yalçinkayal, Cengiz;
Gerceker, Filiz Ozbas;
Wanders, Ronald J.A.;
Prud'homme, Jean-François;
Lathrop, Mark;
Özguc, Meral;
Fischer, Judith

Publication type:

Article

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2885, doi. 10.1093/hmg/ddh299

By:

Bray, Nicholas J.;
Jehu, Luke;
Moskvina, Valentina;
Buxbaum, Joseph D.;
Dracheva, Stella;
Haroutunian, Vahram;
Williams, Julie;
Buckland, Paul R.;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2753, doi. 10.1093/hmg/ddh298

By:

Ropero, Santiago;
Setien, Fernando;
Espada, Jesus;
Fraga, Mario F.;
Herranz, Michel;
Asp, Julia;
Benassi, Maria Serena;
Franchi, Alessandro;
Patiño, Ana;
Ward, Laura S.;
Bovee, Judith;
Cigudosa, Juan C.;
Wim, Wuyts;
Esteller, Manel

Publication type:

Article

Establishing the epigenetic status of the Prader–Willi/Angelman imprinting center in the gametes and embryo.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 22, p. 2767, doi. 10.1093/hmg/ddh290

By:

Kantor, Boris;
Kaufman, Yotam;
Makedonski, Kirill;
Razin, Aharon;
Shemer, Ruth

Publication type:

Article