Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 10

Results: 25

A High Resolution CEPH Crossover Mapping Panel and Integrated Map of Chromosome 11.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1631, doi. 10.1093/hmg/5.10.1631

By:

Fain, Pamela R.;
Kort, Edward N.;
Yousry, Cherine;
James, Michael R.;
Litt, Michael

Publication type:

Article

Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547

By:

Wuyts, Wim;
Van Hul, Wim;
Wauters, Jan;
Nemtsova, Marina;
Reyniers, Edwin;
Van Hul, Els;
De Boulle, Kristel;
de Vries, Bert B. A.;
Hendrickx, Jan;
Herrygers, Ilde;
Bossuyt, Paul;
Balemans, Wendy;
Fransen, Erik;
Vits, Lieve;
Coucke, Paul;
Nowak, Norma J.;
Shows, Thomas B.;
Mallet, Laurence;
van den Ouweland, Ans M. W.;
McGaughran, Julie

Publication type:

Article

The Evolutionary Distribution and Structural Organization of the Homeobox-Containing Repeat D4Z4 Indicates a Functional Role for the Ancestral Copy in the FSHD Region.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1567, doi. 10.1093/hmg/5.10.1567

By:

Winokur, Sara T.;
Bengtsson, Ulla;
Vargas, Julie C.;
Wasmuth, John J.;
Altherr, Michael R.

Publication type:

Article

A Novel Germ Line Mutation in SOX9 Causes Familial Campomelic Dysplasia and Sex Reversal.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1625, doi. 10.1093/hmg/5.10.1625

By:

Cameron, Fergus J.;
Hageman, Robyn M.;
Cooke-Yarborough, Claire;
Kwok, Cheni;
Goodwin, Linda L.;
Sillence, David O.;
Sinclair, Andrew H.

Publication type:

Article

Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1533, doi. 10.1093/hmg/5.10.1533

By:

Gladwin, Amanda J.;
Dixon, Jill;
Loftus, Stacie K.;
Edwards, Sara;
Wasmuth, John J.;
Hennekam, Raoul C. M.;
Dixon, Michael J.

Publication type:

Article

Susceptibility Locus for Inflammatory Bowel Disease on Chromosome 16 has a Role in Crohn's disease, but Not in Ulcerative Colitis.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1679, doi. 10.1093/hmg/5.10.1679

By:

Ohmen, Jeffrey D.;
Yang, Hui-Ying;
Yamamoto, Karen K.;
Zhao, Hong-Yu;
Ma, Yuanhong;
Bentley, L. Gordon;
Huang, Zhihan;
Gerwehr, Scott;
Pressman, Sheila;
McElree, Colleen;
Targan, Stephan;
Rotter, Jerome I.;
Fischel-Ghodsian, Nathan

Publication type:

Article

Idiopathic Torsion Dystonia: Assignment of a Gene to Chromosome 18p in a German Family With Adult Onset, Autosomal Dominant Inheritance and Purely Focal Distribution.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1673, doi. 10.1093/hmg/5.10.1673

By:

Leube, Barbara;
Rudnicki, Doda;
Ratzlaff, Tim;
Kessler, Kirn R.;
Benecke, Reiner;
Auburger, Georg

Publication type:

Article

The Asp84Glu Variant of the Melanocortin 1 Receptor (MC1R) is Associated with Melanoma.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1663, doi. 10.1093/hmg/5.10.1663

By:

Valverde, Paloma;
Healy, Eugene;
Sikkink, Stephen;
Haldane, Faye;
Thody, Anthony J.;
Carothers, Andrew;
Jackson, Ian J.;
Rees, Jonathan L.

Publication type:

Article

Mechanism of Ret Dysfunction by Hirschsprung Mutations Affecting Its Extracellular Domain.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1577, doi. 10.1093/hmg/5.10.1577

By:

Iwashita, Toshihide;
Murakami, Hideki;
Asai, Naoya;
Takahashi, Masahide

Publication type:

Article

Characterization of the Human Jumonji Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1637, doi. 10.1093/hmg/5.10.1637

By:

Bergé-Lefranc, Jean-Louis;
Jay, Philippe;
Massacrier, Annick;
Cau, Pierre;
Mattei, Marie Geneviève;
Bauer, Sophie;
Marsollier, Catherine;
Berta, Philippe;
Fontes, Michel

Publication type:

Article

The Toxic Milk Mouse is a Murine Model of Wilson Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1619, doi. 10.1093/hmg/5.10.1619

By:

Theophilos, Michael B.;
Cox, Diane W.;
Mercer, Julian F. B.

Publication type:

Article

Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1559, doi. 10.1093/hmg/5.10.1559

By:

Tennyson, Christine N.;
Dally, Ghassan Y.;
Ray, Peter N.;
Worton, Ronald G.

Publication type:

Article

The Gene for Schnyder's Crystalline Corneal Dystrophy Maps to Human Chromosome 1p34.1–p36.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1667, doi. 10.1093/hmg/5.10.1667

By:

Shearman, Amanda M.;
Hudson, Thomas J.;
Andresen, J. Michael;
Wu, Xiaoyun;
Sohn, Robert L.;
Haluska, Frank;
Housman, David E.;
Weiss, Jayne S.

Publication type:

Article

Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1657, doi. 10.1093/hmg/5.10.1657

By:

Pomponio, Robert J.;
Narasimhan, Vasant;
Reynolds, Thomas R.;
Buck, Gregory A.;
Povirk, Lawrence F.;
Wolf, Barry

Publication type:

Article

Mutant Fibrillin-1 Monomers Lacking EGF-Like Domains Disrupt Microfibril Assembly and Cause Severe Marfan Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1581, doi. 10.1093/hmg/5.10.1581

By:

Liu, Wanguo;
Qian, Chiping;
Comeau, Kimberly;
Brenn, Thomas;
Furthmayr, Heinz;
Francke, Uta

Publication type:

Article

Characterization of the Human ABC Superfamily: Isolation and Mapping of 21 New Genes Using the Expressed Sequence Tags Database.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1649, doi. 10.1093/hmg/5.10.1649

By:

Allikmets, Rando;
Gerrard, Bernard;
Hutchinson, Amy;
Dean, Michael

Publication type:

Article

Functional Analysis in Saccharomyces Cerevisiae of Naturally Occurring Amino Acid Substitutions in Human Dihydrolipoamide Dehydrogenase.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1643, doi. 10.1093/hmg/5.10.1643

By:

Lanterman, Margaret M.;
Dickinson, J. Richard;
Danner, Dean J.

Publication type:

Article

HPRT-APRT-deficient Mice Are Not a Model for Lesch-Nyhan Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1607, doi. 10.1093/hmg/5.10.1607

By:

Engle, Sandra J.;
Womer, Daniel E.;
Davies, Philip M.;
Boivin, Greg;
Sahota, Amrik;
Simmonds, H. Anne;
Stambrook, Peter J.;
Tischfield, Jay A.

Publication type:

Article

Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1685, doi. 10.1093/hmg/5.10.1685

By:

LeGuern, E.;
Guilbot, A.;
Kessali, M.;
Ravisé, N.;
Tassin, J.;
Maisonobe, T.;
Grid, D.;
Brice, A.

Publication type:

Article

cDNA Cloning and Chromosome Mapping of the Human Fe65 Gene: Interaction of the Conserved Cytoplasmic Domains of the Human β-amyloid Precursor Protein and Its Homologues with the Mouse Fe65 Protein.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1589

By:

Brassler, Steven L.;
Gray, Matthew D.;
Sopher, Bryce L.;
Hu, Qubai;
Hearn, Mark G.;
Pham, Dao G.;
Dinulos, Mary Beth;
Fukuchi, Ken-Ichiro;
Sisodia, Sangram S.;
Miller, Margaret A.;
Disteche, Christine M.;
Martin, George M.

Publication type:

Article

Identification of a Transcriptional Enhancer Within Muscle Intron 1 of the Human Dystrophin Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1599, doi. 10.1093/hmg/5.10.1599

By:

Klamut, Henry J.;
Bosnoyan-Collins, Lucine O.;
Worton, Ronald G.;
Ray, Peter N.;
Davis, Heather L.

Publication type:

Article

Homozygous Deletion Mutations in the Plectin Gene (PLEC1) in Patients with Epidermolysis Bullosa Simplex Associated with Late-Onset Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1539, doi. 10.1093/hmg/5.10.1539

By:

Pulkkinen, Leena;
Smith, Frances J. D.;
Shimizu, Hiroshi;
Murata, Satoru;
Yaoita, Hideo;
Hachisuka, Hiroshi;
Nishikawa, Takeji;
McLean, W. H. Irwin;
Uitto, Jouni

Publication type:

Article

Full Genetic Rescue of Adenosine Deaminase-Deficient Mice Through Introduction of the Human Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1523, doi. 10.1093/hmg/5.10.1523

By:

Migchielsen, Alexandra A. J.;
Breuer, Marco L.;
Hershfield, Michael S.;
Valerio, Dinko

Publication type:

Article

Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1689, doi. 10.1093/hmg/5.10.1689

By:

Wayne, Sigrid;
Der Kaloustian, Vazken M.;
Schloss, Melvin;
Polomeno, Robert;
Scott, Daryl A.;
Hejtmancik, J. Fielding;
Sheffield, Val C.;
Smith, Richard J. H.

Publication type:

Article

Expression of Lysosomal Acid Lipase Mutants Detected in Three Patients with Cholesteryl Ester Storage Disease.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 10, p. 1611, doi. 10.1093/hmg/5.10.1611

By:

Pagani, Franco;
Garcia, Rodolfo;
Pariyarath, Rajalakshmi;
Stuani, Cristiana;
Gridelli, Bruno;
Paone, Giovanni;
BaraMe, Francisco E.

Publication type:

Article