Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 1

Results: 18

Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 1, doi. 10.1093/hmg/8.1.1

By:

Sarig, Rachel;
Mezger-Lallemand, Valerie;
Gitelman, Inna;
Davis, Clay;
Fuchs, Ora;
Yaffe, David;
Nudel, Uri

Publication type:

Article

An 18qsyndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 87, doi. 10.1093/hmg/8.1.87

By:

Katz, Samuel G.;
Schneider, Sandra S.;
Bartuski, Allison;
Trask, Barbara J.;
Massa, Hillary;
Overhauser, Joan;
Lalande, Marc;
Lansdorp, Peter M.;
Silverman, Gary A.

Publication type:

Article

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 115, doi. 10.1093/hmg/8.1.115

By:

Wheeler, Vanessa C.;
Auerbach, Wojtek;
White, Jacqueline K.;
Srinidhi, Jayalakshmi;
Auerbach, Anna;
Ryan, Angela;
Duyao, Mabel P.;
Vrbanac, Vladimir;
Weaver, Meredith;
Gusella, James F.;
Joyner, Alexandra L.;
MacDonald, Marcy E.

Publication type:

Article

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 61, doi. 10.1093/hmg/8.1.61

By:

Esposito, Teresa;
Gianfrancesco, Fernando;
Ciccodicola, Alfredo;
Montanini, Luisa;
Mumm, Steven;
D, Michele;
Forabosco, Antonino

Publication type:

Article

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 107, doi. 10.1093/hmg/8.1.107

By:

Campeau, Eric;
Dupuis, Lucie;
Leclerc, Daniel;
Gravel, Roy A.

Publication type:

Article

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 99, doi. 10.1093/hmg/8.1.99

By:

Sato, Toshiya;
Oyake, Mutsuo;
Nakamura, Kenji;
Nakao, Kazuki;
Fukusima, Yoshimitsu;
Onodera, Osamu;
Igarashi, Shuichi;
Takano, Hiroki;
Kikugawa, Koki;
Ishida, Yoshinori;
Shimohata, Takayoshi;
Koide, Reiji;
Ikeuchi, Takeshi;
Tanaka, Hajime;
Futamura, Naonobu;
Matsumura, Ryusuke;
Takayanagi, Tetsuya;
Tanaka, Fumiaki;
Sobue, Gen;
Komure, Osamu

Publication type:

Article

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 45, doi. 10.1093/hmg/8.1.45

By:

Ylikorkala, Antti;
Avizienyte, Egle;
Tomlinson, Ian P. M.;
Tiainen, Marianne;
Roth, Stina;
Loukola, Anu;
Hemminki, Akseli;
Johansson, Marie;
Sistonen, Pertti;
Markie, David;
Neale, Kay;
Phillips, Robin;
Zauber, Peter;
Twama, Takeo;
Sampson, Julian;
Järvinen, Heikki;
Mäkelä, Tomi P.;
Aaltonen, Lauri A.

Publication type:

Article

Genetic control of the circulating concentration of transforming growth factor type β1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 93, doi. 10.1093/hmg/8.1.93

By:

Grainger, David J.;
Heathcote, Kirsten;
Chiano, Mathias;
Snieder, Harold;
Kemp, Paul R.;
Metcalfe, James C.;
Carter, Nicholas D.;
Spector, Tim D.

Publication type:

Article

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 69, doi. 10.1093/hmg/8.1.69

By:

Sandoval, Natalia;
Platzer, Matthias;
Rosenthal, André;
Dörk, Thilo;
Bendix, Regina;
Skawran, Britta;
Stuhrmann, Manfred;
Wegner, Rolf-Dieter;
Sperling, Karl;
Banin, Sharon;
Shiloh, Yosef;
Baumer, Alessandra;
Bernthaler, Ulrike;
Sennefelder, Helga;
Brohm, Monika;
Weber, Bernhard H. F.;
Schindler, Detlev

Publication type:

Article

EYA4, a novel vertebrate gene related to Drosophila eyes absent.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 11, doi. 10.1093/hmg/8.1.11

By:

Borsani, Giuseppe;
DeGrandi, Alessandro;
Ballabio, Andrea;
Bulfone, Alessandro;
Bernard, Loris;
Banfi, Sandro;
Gattuso, Claudio;
Mariani, Margherita;
Dixon, Michael;
Donnai, Dian;
Metcalfe, Kay;
Winter, Robin;
Robertson, Marie;
Axton, Richard;
Brown, Alison;
van Heyningen, Veronica;
Hanson, Isabel

Publication type:

Article

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 53

By:

Lu, Xiaohui;
Timchenko, Nikolai A.;
Timchenko, Lubov T.

Publication type:

Article

A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 81, doi. 10.1093/hmg/8.1.81

By:

Farrer, Matt;
Gwinn-Hardy, Katrina;
Muenter, Manfred;
Wavrant DeVrieze, Fabienne;
Crook, Richard;
Perez-Tur, Jordi;
Lincoln, Sarah;
Maraganore, Demetrius;
Adler, Charles;
Newman, Stephanie;
MacElwee, Kari;
McCarthy, Page;
Miller, Carol;
Waters, Cheryl;
Hardy, John

Publication type:

Article

Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 123, doi. 10.1093/hmg/8.1.123

By:

Délot, Emmanuèle;
King, Lily M.;
Briggs, Michael D.;
Wilcox, William R.;
Cohn, Daniel H.

Publication type:

Article

The spectrum of mutations in UBE3A causing Angelman syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 129, doi. 10.1093/hmg/8.1.129

By:

Fang, Ping;
Lev-Lehman, Efrat;
Tsai, Ting-Fen;
Matsuura, Toshinobu;
Benton, Claudia S.;
Sutcliffe, James S.;
Christian, Susan L.;
Kubota, Takeo;
Halley, Dicky J.;
Meijers-Heijboer, Hanne;
Langlois, Sylvie;
Graham Jr, John M.;
Beuten, Joke;
Willems, Patrick J.;
Ledbetter, David H.;
Beaudet, Arthur L.

Publication type:

Article

In vitro evidence for both the nucleus and cytoplasmas subcellular sites of pathogenesis in Huntington's disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 25, doi. 10.1093/hmg/8.1.25

By:

Hackam, Abigail S.;
Singaraja, Roshni;
Zhang, Taiqi;
Gan, Lu;
Hayden, Michael R.

Publication type:

Article

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 143, doi. 10.1093/hmg/8.1.143

By:

Armstrong, D. Keith, B.;
McKenna, Kevin E.;
Purkis, Patricia E.;
Green, Kathleen J.;
Eady, Robin A. J.;
Leigh, Irene M.;
Hughes, Anne E.

Publication type:

Article

The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 137, doi. 10.1093/hmg/8.1.137

By:

Cong, Yu-Sheng;
Wen, Jianping;
Bacchetti, Silvia

Publication type:

Article

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 1, p. 35

By:

Li, Cuiling;
Chen, Lin;
Iwata, Tomoko;
Kitagawa, Motoo;
Fu, Xin-Yuan;
Deng, Chu-Xia

Publication type:

Article