Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 8

Results: 18

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1261, doi. 10.1093/hmg/7.8.1261

By:

Klose, Anja;
Ahmadian, M. Reza;
Schuelke, Markus;
Scheffzek, Klaus;
Hoffmeyer, Sven;
Gewies, Andreas;
Schmitz, Frank;
Kaufmann, Dieter;
Peters, Hartmut;
Wittinghofer, Alfred;
Nürnberg, Peter

Publication type:

Article

The P-selectin gene is highly polymorphic: reduced frequency of the Pro715 allele carriers in patients with myocardial infarction.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1277, doi. 10.1093/hmg/7.8.1277

By:

Herrmann, Stefan‐Martin;
Ricard, Sylvain;
Nicaud, Viviane;
Mallet, Christine;
Evans, Alun;
Ruidavets, Jean‐Bernard;
Arveiler, Dominique;
Luc, Gerald;
Cambien, François

Publication type:

Article

DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1235, doi. 10.1093/hmg/7.8.1235

By:

Marrosu, Maria Giovanna;
Murru, Maria Rita;
Costa, Gianna;
Murru, Raffaele;
Muntoni, Francesco;
Cucca, Francesco

Publication type:

Article

Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1229, doi. 10.1093/hmg/7.8.1229

By:

Haines, Jonathan L.;
Terwedow,, Henry A.;
Burgess,, Katie;
Pericak‐Vance,, Margaret A.;
Rimmler,, Jackie B.;
Martin,, Eden R.;
Oksenberg,, Jorge R.;
Lincoln,, Robin;
Zhang,, David Y.;
Banatao,, Diosdado R.;
Gatto,, Nicole;
Goodkin and, Donald E.;
Hauser, Stephen L.

Publication type:

Article

Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1221, doi. 10.1093/hmg/7.8.1221

By:

Savage, Amanda R.;
Petersen, Michael B.;
Pettay, Dorothy;
Taft, Lisa;
Allran, Katherine;
Freeman, Sallie B.;
Karadima, Georgia;
Avramopoulos, Dimitris;
Torfs, Claudine;
Mikkelsen, Margareta;
Hassold, Terry J.;
Sherman, Stephanie L.

Publication type:

Article

Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1285, doi. 10.1093/hmg/7.8.1285

By:

Lia, Anne‐Sophie;
Seznec, Hervé;
Hofmann‐Radvanyi, Hélène;
Radvanyi, François;
Duros, Chantal;
Saquet, Céline;
Blanche, Martine;
Junien, Claudine;
Gourdon, Geneviève

Publication type:

Article

Human doublecortin (DCX ) and the homologous gene in mouse encode a putative Ca[sup 2+]-dependent signaling protein which is mutated in human X-linked neuronal migration defects.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1327

By:

Sossey‐Alaoui, Khalid;
Hartung, Andrew J.;
Guerrini, Renzo;
Manchester, David K.;
Posar, Annio;
Puche‐Mira, A.;
Andermann, Eva;
Dobyns, William B.;
Srivastava, Anand K.

Publication type:

Article

A Golgi localization signal identified in the Menkes recombinant protein.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1245, doi. 10.1093/hmg/7.8.1245

By:

Francis, Michael J.;
Jones, Emma E.;
Levy, Elaine R.;
Ponnambalam, Sreenivasan;
Chelly, Jamel;
Monaco, Anthony P.

Publication type:

Article

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1207, doi. 10.1093/hmg/7.8.1207

By:

Lemmers, Richard J. L. F.;
van der Maarel, Silvère M.;
van Deutekom, Judith C. T.;
van der Wielen, Michiel J. R.;
Deidda, Giancarlo;
Dauwerse, Hans G.;
Hewitt, Jane;
Hofker, Marten;
Bakker, Egbert;
Padberg, George W.;
Frants, Rune R.

Publication type:

Article

The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1301, doi. 10.1093/hmg/7.8.1301

By:

Nechiporuk, Tamilla;
Huynh, Duong P.;
Figueroa, Karla;
Sahba, Soodabeh;
Nechiporuk, Alex;
Pulst, Stefan‐M.

Publication type:

Article

Functional analysis and intracellular localization of the human Menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1293, doi. 10.1093/hmg/7.8.1293

By:

La Fontaine, Sharon;
Firth, Stephen D.;
Lockhart, Paul J.;
Brooks, Hilary;
Parton, Robert G.;
Camakaris, James;
Mercer, Julian F. B.

Publication type:

Article

An isoform of Pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1195, doi. 10.1093/hmg/7.8.1195

By:

Braverman, Nancy;
Dodt, Gabriele;
Gould, Stephen J.;
Valle, David

Publication type:

Article

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1311, doi. 10.1093/hmg/7.8.1311

By:

Bienvenu, Thierry;
des Portes, Vincent;
Saint Martin, Anne;
McDonell, Nathalie;
Billuart, Pierre;
Carrié, Alain;
Vinet, Marie‐Claude;
Couvert, Philippe;
Toniolo, Daniela;
Ropers, Hans‐Hilger;
Moraine, Claude;
van Bokhoven, Hans;
Fryns, Jean‐Pierre;
Kahn, Axel;
Beldjord, Cherif;
Chelly, Jamel

Publication type:

Article

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1215, doi. 10.1093/hmg/7.8.1215

By:

Harvey, John S.;
Carey, William F.;
Morris, C. Phillip

Publication type:

Article

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1317, doi. 10.1093/hmg/7.8.1317

By:

Bernot, Alain;
da Silva, Corinne;
Petit, Jean‐Louis;
Cruaud, Corinne;
Caloustian, Christophe;
Castet, Valérie;
Ahmed‐Arab, Mehdi;
Dross, Christiane;
Dupont, Madeleine;
Cattan, Daniel;
Smaoui, Nizar;
Dodé, Catherine;
Pêcheux, Christophe;
Nédelec, Brigitte;
Medaxian, Jean;
Rozenbaum, Michel;
Rosner, Itshak;
Delpech, Marc;
Grateau, Gilles;
Demaille, Jacques

Publication type:

Article

Gene conversion is a likely cause of mutation in PKD1.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1239, doi. 10.1093/hmg/7.8.1239

By:

Watnick, Terry J.;
Gandolph, Michael A.;
Weber, Horst;
Neumann, Hartmut P. H.;
Germino, Gregory G.

Publication type:

Article

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1253, doi. 10.1093/hmg/7.8.1253

By:

Ritchie, Rachael J.;
Mattei, Marie‐Geneviève;
Lalande, Marc

Publication type:

Article

The domain encoded by exon 2 of the survival motor neuron protein mediates nucleic acid binding.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 8, p. 1269, doi. 10.1093/hmg/7.8.1269

By:

Lorson, Christian L.;
Androphy, Elliot J.

Publication type:

Article