Works matching IS 09646906 AND DT 1998 AND VI 7 AND IP 13

Results: 22

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Al‐Chalabi, Ammar;
Andersen, Peter M.;
Chioza, Barry;
Shaw, Christopher;
Sham, Pak C.;
Robberecht, Wim;
Matthijs, Gert;
Camu, William;
Marklund, Stefan L.;
Forsgren, Lars;
Rouleau, Guy;
Laing, Nigel G.;
Hurse, P. V.;
Siddique, Teepu;
Leigh, P. Nigel;
Powell, John F.

Publication type:

Article

Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Ferrell, Robert E.;
Levinson, Kara L.;
Esman, Judith H.;
Kimak, Mark A.;
Lawrence, Elizabeth C.;
Barmada, M. Michael;
Finegold, David N.

Publication type:

Article

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2089

By:

Imamura, Atsushi;
Tamura, Shigehiko;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Zhang, Zhongyi;
Tsukamoto, Toshiro;
Orii, Tadao;
Kondo, Naomi;
Osumi, Takashi;
Fujiki, Yukio

Publication type:

Article

Mosaicism in sporadic neurofibromatosis 2 patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2051

By:

Kluwe, Lan;
Mautner, Victor‐F.

Publication type:

Article

The origin and evolution of the pseudoautosomal regions of human sex chromosomes.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Graves, Jennifer A. M.;
Wakefield, Matthew J.;
Toder, Roland

Publication type:

Article

Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2039

By:

Lönnqvist, L.;
Reinhardt, D.;
Sakai, L.;
Peltonen, L.

Publication type:

Article

NF2 gene in neurofibromatosis type 2 patients.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Zucman‐Rossi, Jessica;
Legoix, Patricia;
Der Sarkissian, Hera;
Cheret, Genevieve;
Sor, Frederic;
Bernardi, Alberto;
Cazes, Lucien;
Giraud, Sophie;
Ollagnon, Elisabeth;
Lenoir, Gilbert;
Thomas, Gilles

Publication type:

Article

Mitochondrial tRNA[sup Leu] isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2141

By:

El Meziane, Abdellatif;
Lehtinen, Sanna K.;
Holt, Ian J.;
Jacobs, Howard T.

Publication type:

Article

A C-terminal di-leucine is required for localization of the Menkes protein in the trans -Golgi network.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Petris, Michael J.;
Camakaris, James;
Greenough, Mark;
LaFontaine, Sharon;
Mercer, Julian F. B.

Publication type:

Article

LCR-dependent gene expression in β-globin YAC transgenics: detailed structural studies validate functional analysis even in the presence of fragmented YACs.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Peterson, Kenneth R.;
Navas, Patrick A.;
Li, Qiliang;
Stamatoyannopoulos, George

Publication type:

Article

De novo mutations and allelic diversity at minisatellite locus D7S22 investigated by allele-specific four-state MVR-PCR analysis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2113

By:

Andreassen, Rune;
Olaisen, Bjørnar

Publication type:

Article

Promoter of mDMAHP /Six5 : differential utilization of multiple transcription initiation sites and positive/negative regulatory elements.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Murakami, Yoshiaki;
Ohto, Hiromi;
Ikeda, Uichi;
Shimada, Kazuyuki;
Momoi, Takashi;
Kawakami, Kiyoshi

Publication type:

Article

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2121

By:

Khandjian, E. W.;
Bardoni, B.;
Corbin, F.;
Sittler, A.;
Giroux, S.;
Heitz, D.;
Tremblay, S.;
Pinset, C.;
Montarras, D.;
Rousseau, F.;
Mandel, J.‐L.

Publication type:

Article

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Wang, Shu Pei;
Marth, Jamey D.;
Oligny, Luc L.;
Vachon, Marie;
Robert, Marie‐France;
Ashmarina, Lyudmila;
Mitchell, G. A.

Publication type:

Article

Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2135

By:

Bonaldo, Paolo;
Braghetta, Paola;
Zanetti, Miriam;
Piccolo, Stefano;
Volpin, Dino;
Bressan, Giorgio M.

Publication type:

Article

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Trask, Barbara J.;
Massa, Hillary;
Brand‐Arpon, Veronique;
Chan, Kin;
Friedman, Cynthia;
Nguyen, Oanh T.;
Eichler, Evan;
van den Engh, Ger;
Rouquier, Sylvie;
Shizuya, Hiroaki;
Giorgi, Dominique

Publication type:

Article

Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2129

By:

Taboulet, J.;
Frenkian, M.;
Frendo, J. L.;
Feingold, N.;
Jullienne, A.;
de Vernejoul, M. C.

Publication type:

Article

The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approachto predict gene function.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Bulfone, Alessandro;
Gattuso, Claudio;
Marchitiello, Anna;
Pardini, Celia;
Boncinelli, Edoardo;
Borsani, Giuseppe;
Banfi, Sandro;
Ballabio, Andrea

Publication type:

Article

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene ( wolframin) coding for a predicted transmembrane protein.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Strom, Tim M.;
Hörtnagel, Konstanze;
Hofmann, Sabine;
Gekeler, Florian;
Scharfe, Curt;
Rabl, Wolfgang;
Gerbitz, Klaus D.;
Meitinger, Thomas

Publication type:

Article

Characterization of a gene encoding Survival Motor Neuron (SMN)-related protein, a constituent of the spliceosome complex.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2149

By:

Talbot, Kevin;
Miguel‐Aliaga, Irene;
Mohaghegh, Payam;
Ponting, Chris P.;
Davies, Kay E.

Publication type:

Article

LIS1 and XLIS ( DCX ) mutations cause most classical lissencephaly, but different patterns of malformation.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Pilz, Daniela T.;
Matsumoto, Naomichi;
Minnerath, Sharon;
Mills, Patti;
Gleeson, Joseph G.;
Allen, Kristin M.;
Walsh, Christopher A.;
Barkovich, A. James;
Dobyns, William B.;
Ledbetter, David H.;
Ross, M. Elizabeth

Publication type:

Article

Cloning and characterization of Krct, a member of a novel subfamily of serine/threonine kinases.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 13

By:

Stairs, Douglas B.;
Perry Gardner, Heather;
Ha, Seung I.;
Copeland, Neal G.;
Gilbert, Debra J.;
Jenkins, Nancy A.;
Chodosh, Lewis A.

Publication type:

Article