Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 9

Results: 24

A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1339, doi. 10.1093/hmg/5.9.1339

By:

Richards, Allan J.;
Yates, John R. W.;
Williams, Rebecca;
Payne, Stewart J.;
Michael Pope, F.;
Scott, John D.;
Snead, Martin P.

Publication type:

Article

Linkage of Scapuloperoneal Spinal Muscular Atrophy to Chromosome 12q24.1-q24.31.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1377, doi. 10.1093/hmg/5.9.1377

By:

Isozumi, Kazuo;
DeLong, Robert;
Kaplan, Jocelyn;
Deng, Han-Xiang;
Iqbal, Zafar;
Hung, Wu-Yen;
Wilhelmsen, Kirk C.;
Hentati, Afif;
Pericak-Vance, Margaret A.;
Siddique, Teepu

Publication type:

Article

In Vitro Expression Analysis Shows that the Secretory Form of Gelsolin is the Sole Source of Amyloid in Gelsolin-Related Amyloidosis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1237, doi. 10.1093/hmg/5.9.1237

By:

Kangas, Hannele;
Paunio, Tiina;
Kalkkinen, Nisse;
Jalanko, Anu;
Peltonen, Leena

Publication type:

Article

New Mutations in Acetylcholine Receptor Subunit Genes Reveal Heterogeneity in the Slow-Channel Congenital Myasthenic Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1217, doi. 10.1093/hmg/5.9.1217

By:

Engel, Andrew G.;
Ohno, Kinji;
Milone, Margherita;
Wang, Hai-Long;
Nakano, Satoshi;
Bouzat, Cecilia;
Pruitt, J. Ned;
Hutchinson, David O.;
Brengman, Joan M.;
Bren, Nina;
Sieb, Joern P.;
Sine, Steven M.

Publication type:

Article

Cloning and Expression Analyses of Mouse Dystroglycan Gene: Specific Expression in Maternal Decidua at the Peri-Implantation Stage.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1259, doi. 10.1093/hmg/5.9.1259

By:

Yotsumoto, Shinichi;
Fujiwara, Hiroyuki;
Horton, Joseph H.;
Mosby, Tracy A.;
Wang, Xueqian;
Cui, Yushun;
Ko, Minoru S. H.

Publication type:

Article

KVLQT1 Mutations in Three Families with Familial or Sporadic Long QT Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1319, doi. 10.1093/hmg/5.9.1319

By:

Russell, Mark W.;
Dick, Macdonald;
Collins, Francis S.;
Brody, Lawrence C.

Publication type:

Article

Role of Late Replication Timing in the Silencing of X-Linked Genes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1345, doi. 10.1093/hmg/5.9.1345

By:

Hansen, R. Scott;
Canfield, Theresa K.;
Fjeld, Alan D.;
Gartler, Stanley M.

Publication type:

Article

Founder Effect in Spinal and Bulbar Muscular Atrophy (SBMA).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1253, doi. 10.1093/hmg/5.9.1253

By:

Tanaka, Fumiaki;
Doyu, Manabu;
Ito, Yasuhiro;
Matsumoto, Michiyo;
Mitsuma, Terunori;
Abe, Koji;
Aoki, Masashi;
Itoyama, Yasuto;
Fischbeck, Kenneth H.;
Sobue, Gen

Publication type:

Article

The Mouse Smcx Gene Exhibits Developmental and Tissue Specific Variation in Degree of Escape from X Inactivation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1355, doi. 10.1093/hmg/5.9.1355

By:

Sheardown, Steven;
Norris, Dominic;
Fisher, Amanda;
Brockdorff, Neil

Publication type:

Article

A 27 Base-Pair Deletion of the Anti-Müllerian Type Ii Receptor Gene is the Most Common Cause of the Persistent MüLlerian Duct Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1269, doi. 10.1093/hmg/5.9.1269

By:

Imbeaud, Sandrine;
Belville, Corinne;
Messika-Zeitoun, Liza;
Rey, Rodolfo;
di Clemente, Nathalie;
Josso, Nathalie;
Picard, Jean-Yves

Publication type:

Article

Spinocerebellar Ataxia Type-1 and Spinobulbar Muscular Atrophy Gene Products Interact with Glyceraldehyde-3-Phosphate Dehydrogenase.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1311, doi. 10.1093/hmg/5.9.1311

By:

Koshy, Beena;
Matilla, Toni;
Burright, Eric N.;
Merry, Diane E.;
Fischbeck, Kenneth H.;
Orr, Harry T.;
Zoghbi, Huda Y.

Publication type:

Article

A Human Homologue of Drosophila Minibrain (Mnb) Is Expressed in the Neuronal Regions Affected in Down Syndrome and Maps to the Critical Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1305, doi. 10.1093/hmg/5.9.1305

By:

Guimerâ, Jordi;
Casas, Caty;
Pucharcôs, Carles;
Solans, Asun;
Domènech, Anna;
Planas, Anna M.;
Ashley, Jennifer;
Lovett, Michael;
Estivill, Xavier;
Pritchard, Melanie A.

Publication type:

Article

Evolutionary Conservation of Sequence and Expression of the bHLH Protein Atonal Suggests a Conserved Role in Neurogenesis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1207, doi. 10.1093/hmg/5.9.1207

By:

Ben-Arie, Nissim;
McCall, Alanna E.;
Berkman, Scott;
Eichele, Gregor;
Bellen, Hugo J.;
Zoghbi, Huda Y.

Publication type:

Article

Localization of a Gene for Möbius Syndrome to Chromosome 3q by Linkage Analysis in a Dutch Family.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1367, doi. 10.1093/hmg/5.9.1367

By:

Kremer, Hannie;
Kuyt, Lambertus P.;
van den Helm, Bellinda;
van Reen, Margo;
Leunissen, Jack A. M.;
Hamel, Ben C. J.;
Jansen, Cees;
Mariman, Edwin C. M.;
Frants, Rune R.;
Padberg, George W.

Publication type:

Article

Genetic Variation at a Splicing Branch Point in Intron 9 of the Low Density Lipoprotein (LDL)-Receptor Gene: A Rare Mutation that Disrupts mRNA Splicing in a Patient with Familial Hypercholesterolaemia and a Common Polymorphism.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1325, doi. 10.1093/hmg/5.9.1325

By:

Webb, Julie C.;
Patel, Dilip D.;
Shoulders, Carol C.;
Knight, Brian L.;
Soutar, Anne K.

Publication type:

Article

Reduced Levels of Dystrophin Associated Proteins in the Brains of Mice Deficient for Dp71.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1299, doi. 10.1093/hmg/5.9.1299

By:

Greenberg, David S.;
Schatz, Yechezkel;
Levy, Zehava;
Pizzo, Paola;
Yaffe, David;
Nudel, Uri

Publication type:

Article

Autosomal Dominant Charcot-Marie-Tooth Axonal Neuropathy Mapped on Chromosome 7p (CMT2D).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1373, doi. 10.1093/hmg/5.9.1373

By:

Ionasescu, Victor;
Searby, Charles;
Sheffield, Val C.;
Roklina, Tatiana;
Nishimura, Darrell;
Ionasescu, Rebecca

Publication type:

Article

A Novel Locus for Non-syndromic Sensorineural Deafness (DFN6) Maps to Chromosome Xp22.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1383, doi. 10.1093/hmg/5.9.1383

By:

del Castillo, Ignacio;
Villamar, Manuela;
Sarduy, Maritza;
Romero, Lourdes;
Herraiz, Carlos;
Javier Hernández, F.;
Rodríguez, Mariano;
Borrás, Isabel;
Montero, Ángeles;
Bellón, Joaquín;
Cruz Tapia, M.;
Moreno, Felipe

Publication type:

Article

Microsatellite Instability and Mutation Analysis of hMSH2 and hMLH1 in Patients with Sporadic, Familial and Hereditary Colorectal Cancer.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1245, doi. 10.1093/hmg/5.9.1245

By:

Moslein, Gabriela;
Tester, David J.;
Lindor, Noralane M.;
Honchel, Ronald;
Cunningham, Julie M.;
French, Amy J.;
Halling, Kevin C.;
Schwab, Manfred;
Goretzki, Peter;
Thibodeau, Stephen N.

Publication type:

Article

The t(X;1)(p11.2;q21.2) Translocation in Papillary Renal Cell Carcinoma Fuses a Novel Gene PRCC to the TFE3 Transcription Factor Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1333, doi. 10.1093/hmg/5.9.1333

By:

Sidhar, Sanjiv K.;
Clark, Jeremy;
Gill, Sandra;
Hamoudi, Rifat;
Crew, A. Jayne;
Gwilliam, Rhian;
Ross, Mark;
Linehan, W. Marston;
Birdsall, Sandra;
Shipley, Janet;
Cooper, Colin S.

Publication type:

Article

Tissue and Lineage-Specific Variation in Inactive X Chromosome Expression of the Murine Smcx Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1361, doi. 10.1093/hmg/5.9.1361

By:

Carrel, Laura;
Hunt, Patricia A.;
Willard, Huntington F.

Publication type:

Article

Human, Canine and Murine BRCA1 Genes: Sequence Comparison Among Species.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1289, doi. 10.1093/hmg/5.9.1289

By:

Szabo, Csilla I.;
Wagner, Lori A.;
Francisco, Leigh V.;
Roach, Jared C.;
Argonza, Rhoda;
King, Mary-Claire;
Ostrander, Elaine A.

Publication type:

Article

Breakpoint Diversity Illustrates Distinct Mechanisms for Robertsonian Translocation Formation.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1279, doi. 10.1093/hmg/5.9.1279

By:

Page, Scott L.;
Shin, Jong-Chul;
Han, Jin-Yeong;
Andy Choo, K. H.;
Shaffer, Lisa G.

Publication type:

Article

Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 9, p. 1229, doi. 10.1093/hmg/5.9.1229

By:

de Kok, Yvette J. M.;
Vossenaar, Erik R.;
Cremers, Cor W. R. J.;
Dahl, Niklas;
Laporte, Jocelyn;
Jia Hu, Ling;
Lacombe, Didier;
Fischel-Ghodsian, Nathan;
Friedman, Rick A.;
Parnes, Lorne S.;
Thorpe, Peter;
Bitner-Glindzicz, Maria;
Pander, Hans-Jürgen;
Heilbronner, Helmut;
Graveline, Johanna;
den Dunnen, Johan T.;
Brunner, Han G.;
Ropers, Hans-Hilger;
Cremers, Frans P. M.

Publication type:

Article