Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 13

Results: 26

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2407, doi. 10.1093/hmg/8.13.2407

By:

Brandau, Oliver;
Schuster, Volker;
Weiss, Michael;
Hellebrand, Heide;
Fink, Franz M.;
Kreczy, Alfons;
Friedrich, Wilhelm;
Strahm, Brigitte;
Niemeyer, Charlotte;
Belohradsky, Bernd H.;
Meindl, Alfons

Publication type:

Article

Unusual 5'transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2461, doi. 10.1093/hmg/8.13.2461

By:

Fuchs, Peter;
Zorer, Michael;
Rezniczek, Gunther A.;
Spazierer, Daniel;
Oehler, Susanne;
Castanon, Maria J.;
Hauptmann, Rudolf;
Wiche, Gerhard

Publication type:

Article

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2425, doi. 10.1093/hmg/8.13.2425

By:

Bidichandani, Sanjay I.;
Purandare, Smita M.;
Taylor, Ellen E.;
Gumin, Glenice;
Machkhas, Hazem;
Harati, Yadollah;
Gibbs, Richard A.;
Ashizawa, Tetsuo;
Patel, Pragna I.

Publication type:

Article

Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2387, doi. 10.1093/hmg/8.13.2387

By:

Blagitko, Nadya;
Schulz, Ute;
Schinzel, Albert A.;
Ropers, Hans-Hilger;
Kalscheuer, Vera M.

Publication type:

Article

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2369, doi. 10.1093/hmg/8.13.2369

By:

Martin, Patricia E.M.;
L. Coleman, Sharon;
Casalotti, Stefano O.;
Forge, Andy;
Evans, W. Howard

Publication type:

Article

The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2443, doi. 10.1093/hmg/8.13.2443

By:

Loomes, Kathleen M.;
Underkoffler, Lara A.;
Morabito, Justin;
Gottlieb, Shoshanna;
Piccoli, David A.;
Spinner, Nancy B.;
Baldwin, H. Scott;
Oakey, Rebecca J.

Publication type:

Article

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2541, doi. 10.1093/hmg/8.13.2541

By:

Yao, Jianbo;
Shoubridge, Eric A.

Publication type:

Article

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2497, doi. 10.1093/hmg/8.13.2497

By:

Boccaccio, Irene;
Glatt-Deeley, Heather;
Watrin, Francoise;
Roeckel, Nathalie;
Lalande, Marc;
Muscatelli, Francoise

Publication type:

Article

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2507, doi. 10.1093/hmg/8.13.2507

By:

Attard, Marlene;
Jean, Genevieve;
Forestier, Lionel;
Cherqui, Stephanie;
van't Hoff, William;
Broyer, Michel;
Antignac, Corinne;
Town, Margaret

Publication type:

Article

Very large (CAG)[sup n] DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2473, doi. 10.1093/hmg/8.13.2473

By:

Monckton, Darren G.;
Cayuela, Maria L.;
Gould, Fiona K.;
Brock, Graham J.R.;
de Silva, Rajith;
Ashizawa, Tetsuo

Publication type:

Article

Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2515, doi. 10.1093/hmg/8.13.2515

By:

Heiss, Nina S.;
Girod, Andreas;
Salowsky, Rudiger;
Wieman, Stefan;
Pepperkok, Rainer;
Poustka, Annemarie

Publication type:

Article

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2525, doi. 10.1093/hmg/8.13.2525

By:

Vitali, Tiziana;
Sossi, Vittorio;
Tiziano, Francesco;
Zappata, Stefania;
Giuli, Anna;
Paravatou-Petsotas, Maria;
Neri, Giovanni;
Brahe, Christina

Publication type:

Article

A retroviral gene trap insertion into the histone 3.3A gene causes partial neonatal lethality, stunted growth, neuromuscular deficits and male sub-fertility in transgenic mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2489, doi. 10.1093/hmg/8.13.2489

By:

Couldrey, Christine;
Carlton, Mark B.L.;
Nolan, Patrick M.;
Colledge, William H.;
Evans, Martin J.

Publication type:

Article

Mapping of a blood pressure quantitative trait locus to chromosome 15q in a Chinese population.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2551

By:

Xu, Xin;
Yang, Jianhua;
Rogus, John;
Chen, Changzhong;
Schork, Nicholas;
Xu, Xiping

Publication type:

Article

Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2437, doi. 10.1093/hmg/8.13.2437

By:

Neuhausen, Susan L.;
Farnham, James M.;
Kort, Edward;
Tavtigian, Sean V.;
Skolnick, Mark H.;
Cannon-Albright, Lisa A.

Publication type:

Article

Ataxin-3 with an altered conformation that exposes the polyglutamine domain is associated with the nuclear matrix.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2377, doi. 10.1093/hmg/8.13.2377

By:

Perez, Matthew K.;
Paulson, Henry L.;
Pittman, Randall N.

Publication type:

Article

The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2479, doi. 10.1093/hmg/8.13.2479

By:

Nanni, Luisa;
Ming, Jeffrey E.;
Bocian, Maureen;
Steinhaus, Kathryn;
Bianchi, Diana W.;
Die-Smulders, Christine de;
Giannotti, Aldo;
Imaizumi, Kiyoshi;
Jones, Kenneth L.;
Del Campo, Miguel;
Martin, Rick A.;
Meinecke, Peter;
Pierpont, Mary Ella M.;
Robin, Nathaniel H.;
Young, Ian D.;
Roessler, Erich;
Muenke, Maximilian

Publication type:

Article

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2533, doi. 10.1093/hmg/8.13.2533

By:

Tiranti, Valeria;
Galimberti, Claudia;
Nijtmans, Leo;
Bovolenta, Silvia;
Perini, Maria Paola;
Zeviani, Massimo

Publication type:

Article

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2339, doi. 10.1093/hmg/8.13.2339

By:

Niksic, Martina;
Romano, Maurizio;
Buratti, Emanuele;
Pagani, Franco;
Baralle, Francisco E.

Publication type:

Article

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2359, doi. 10.1093/hmg/8.13.2359

By:

Sevenet, Nicolas;
Lellouch-Tubiana, Arielle;
Schofield, Deborah;
Hoang-Xuan, Khe;
Gessler, Manfred;
Birnbaum, Daniel;
Jeanpierre, Cecile;
Jouvet, Anne;
Delattre, Olivier

Publication type:

Article

Relative stabilities of dinucleotide and tetranucleotide repeats in cultured mammalian cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2567, doi. 10.1093/hmg/8.13.2567

By:

Lee, Jung Sup;
Hanford, Marsha G.;
Genova, Jennifer L.;
Farber, Rosann A.

Publication type:

Article

A novel RNA-binding nuclear protein that interacts with the frgile X mental retardation (FMR1) protein.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2557, doi. 10.1093/hmg/8.13.2557

By:

Bardoni, Barbara;
Schenck, Annette;
Mandel, Jean Louise

Publication type:

Article

Two murine and human homologs of mab-21, a cell fate determination gene involved in neural development.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2397, doi. 10.1093/hmg/8.13.2397

By:

Mariani, Margherita;
Baldessari, Danila;
Francisconi, Simona;
Viggiano, Luigi;
Rocchi, Mariano;
Zappavigna, Vincenzo;
Malgaretti, Nicoletta;
Consalez, G. Giacomo

Publication type:

Article

Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human Beta-thalassemic mutations.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2415, doi. 10.1093/hmg/8.13.2415

By:

Suter, Daniel;
Tomasini, Reto;
Reber, Ueli;
Gorman, Linda;
Kole, Ryszard;
Schumperli, Daniel

Publication type:

Article

Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2351, doi. 10.1093/hmg/8.13.2351

By:

Buhler, Dirk;
Raker, Veronica;
Luhrmann, Reinhard;
Fischer, Utz

Publication type:

Article

Disassembly of nuclear inclusions in the dividing cell--a novel insight into neurodegeneration.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 13, p. 2451, doi. 10.1093/hmg/8.13.2451

By:

Rich, Tina;
Assier, Eric;
Skepper, Jeremy;
Segard, Haniaa B.;
Allen, Rachel L.

Publication type:

Article