Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 11

Results: 20

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2047, doi. 10.1093/hmg/8.11.2047

By:

Koide, Reiji;
Kobayashi, Shigeichi;
Shimohata, Takayoshi;
Ikeuchi, Takeshi;
Maruyama, Mieko;
Saito, Masaaki;
Yamada, Mitsunori;
Takahashi, Hitoshi;
Tsuji, Shoji

Publication type:

Article

A novel deficiency of mitochondrial ATPase of nuclear origin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 1967

By:

Houstek, Josef;
Klement, Petr;
Floryk, Daniel;
Antonicka, Hana;
Hermanska, Jana;
Kalous, Martin;
Hansikova, Hana;
Houstkova, Hana;
Chowdhury, Subir K. R.;
Rosipal, Stefan;
Kmoch, Stanislav;
Stratilova, Leona;
Zeman, Jiri

Publication type:

Article

Mutation -59c->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2025, doi. 10.1093/hmg/8.11.2025

By:

Scholtz, Charlotte L.;
Peeters, Armand V.;
Hoogendijk, Christiaan F.;
Thiart, Rochelle;
Villiers, J.N.P. de;
Hillermann, Renate;
Liu, Jingwen;
Marais, A. David;
Kotze, Maritha J.

Publication type:

Article

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cbIE complementation group of disorders in folate/cobalamin metabolism.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2009, doi. 10.1093/hmg/8.11.2009

By:

Wilson, A.;
Leclerc, D.;
Rosenblatt, D. S.;
Gravel, R. A.

Publication type:

Article

A common polymorphic allele of the human luteinizing hormone Beta-subunit gene: additional mutations and differential function of the promoter sequence.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2037, doi. 10.1093/hmg/8.11.2037

By:

Jiang, Min;
Pakarinen, Pirjo;
Zhang, Fu-Ping;
El-Hefnawy, Talal;
Koskimies, Pasi;
Pettersson, Kim;
Huhtaniemi, Ilpo

Publication type:

Article

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1Beta.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2001, doi. 10.1093/hmg/8.11.2001

By:

Lindner, Tom H.;
Njolstad, Pal R.;
Horikawa, Yukio;
Bostad, Leif;
Bell, Graeme I.;
Sovik, Oddmund

Publication type:

Article

The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2107, doi. 10.1093/hmg/8.11.2107

By:

Petris, Michael J.;
Mercer, Julian F.B.

Publication type:

Article

The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2063, doi. 10.1093/hmg/8.11.2063

By:

Cramer, Scott D.;
Ferree, Patrick M.;
Lin, Kai;
Milliner, Dawn S.;
Holmes, Ross P.

Publication type:

Article

Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoakeletal structures at lateral and apical surfaces of cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2079, doi. 10.1093/hmg/8.11.2079

By:

Ezer, Sini;
Bayes, Monica;
Elomaa, Outi;
Schlessinger, David;
Kere, Juha

Publication type:

Article

Splicing modulation of integrin Beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2097, doi. 10.1093/hmg/8.11.2097

By:

Chavanas, S.;
Gache, Y.;
Vailly, J.;
Kanitakis, J.;
Pulkkinen, L.;
Uitto, J.;
Ortonne, J.-P.;
Meneguzzi, G.

Publication type:

Article

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2031, doi. 10.1093/hmg/8.11.2031

By:

Black, Graeme C. M.;
Perveen, Rahat;
Bonshek, Richard;
Cahill, Mark;
Clayton-Smith, Jill;
Lloyd, I. Christopher;
McLeod, David

Publication type:

Article

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 1975, doi. 10.1093/hmg/8.11.1975

By:

Amack, Jeffrey D.;
Paguio, Aileen P.;
Mahadevan, Mani S.

Publication type:

Article

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2055, doi. 10.1093/hmg/8.11.2055

By:

Brandt, Annebill;
Schleithoff, Lothar;
Jurkat-Rott, Karin;
Klingler, Werner;
Baur, Christoph;
Lehmann-Horn, Frank

Publication type:

Article

Molecular basis of congenital Lp(a) deficiency: a frequent apo(a) 'null' mutation in Caucasians.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2087, doi. 10.1093/hmg/8.11.2087

By:

Ogorelkova, Miroslava;
Gruber, Alexandra;
Utermann, Gerd

Publication type:

Article

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2121, doi. 10.1093/hmg/8.11.2121

By:

Bowne, Sara J.;
Daiger, Stephen P.;
Hims, Matthew M.;
Sohocki, Melanie M.;
Malone, Kimberly A.;
McKie, Arthur B.;
Heckenlively, John R.;
Birch, David G.;
Inglehearn, Chris F.;
Bhattacharya, Shomi S.;
Bird, Alan;
Sullivan, Lori S.

Publication type:

Article

Instability of the EPM1 minisatellite.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 1985, doi. 10.1093/hmg/8.11.1985

By:

Larson, Garry P.;
Ding, Shaofeng;
Lafreniere, Ronald G.;
Rouleau, Guy A.;
Krontiris, Theodore G.

Publication type:

Article

Transposition of SRY into the ancestral pseudoautosomal region creates a new pseudoautosomal boundary in a progenitor of simian primates.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2071, doi. 10.1093/hmg/8.11.2071

By:

Glaser, Birgitta;
Myrtek, Daniel;
Rumpler, Yves;
Schiebel, Katrin;
Hauwy, Marcel;
Rappold, Gudrun A.;
Schempp, Werner

Publication type:

Article

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 1989, doi. 10.1093/hmg/8.11.1989

By:

Geneste, Olivier;
Bidaud, Christelle;
Vita, Gabriella De;
Hofstra, Robert M. W.;
Tartare-Deckert, Sophie;
Buys, Charles H. C. M.;
Lenoir, Gilbert M.;
Santoro, Massimo;
Billaud, Marc

Publication type:

Article

The Old World monkey DAZ(Deleted in AZoospermia) gene yields insights into the evolution of the DAZ gene cluster on the human Y chromosome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2017, doi. 10.1093/hmg/8.11.2017

By:

Gromoll, Jorg;
Weinbauer, Gerhard F.;
Skaletsky, Helen;
Schlatt, Stefan;
Rocchietti-March, Massimilano;
Page, David C.;
Nieschlag, Eberhard

Publication type:

Article

Y-chromosome-specific microsatellite mutation rates re-examined using a minisatellite, MSY1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 11, p. 2117, doi. 10.1093/hmg/8.11.2117

By:

Jobling, Mark A.;
Heyer, Evelyne;
Dieltjes, Patrick;
Knijff, Peter de

Publication type:

Article