Works matching IS 09646906 AND DT 1996 AND VI 5 AND IP 11

Results: 19

Recurrent Duplication and Deletion Polymorphisms on the Long Arm of the Y Chromosome in Normal Males.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1767, doi. 10.1093/hmg/5.11.1767

By:

Jobling, Mark A.;
Samara, Vassiliki;
Pandya, Arpita;
Fretwell, Neale;
Bernasconi, Barbara;
Mitchell, R. John;
Gerelsaikhan, Tudevdagva;
Dashnyam, Bumbein;
Sajantila, Antti;
Salo, Pia J.;
Nakahori, Yutaka;
Disteche, Christine M.;
Thangaraj, Kumarasamy;
Singh, Lalji;
Crawford, Michael H.;
Tyler-Smith, Chris

Publication type:

Article

Alternate Promoters and Alternate Splicing of Human Tenascin-X, a Gene with 5′ and 3′ Ends Buried in Other Genes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1749, doi. 10.1093/hmg/5.11.1749

By:

Speek, Mart;
Barry, Floyd;
Miller, Walter L.

Publication type:

Article

Oligonucleotide Probes for Alpha Satellite DNA Variants Can Distinguish Homologous Chromosomes by FISH.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1793, doi. 10.1093/hmg/5.11.1793

By:

O'Keefe, Christine L.;
Warburton, Peter E.;
Matera, A. Gregory

Publication type:

Article

A 94 kb Genomic Sequence 3′ to the Murine Xist Gene Reveals an AT Rich Region Containing a New Testis Specific Gene Tsx.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1713, doi. 10.1093/hmg/5.11.1713

By:

Simmler, Marie-Christine;
Cunningham, David B.;
Clerc, Philippe;
Vermat, Thierry;
Caudron, Bernard;
Cruaud, Corinne;
Pawlak, André;
Szpirer, Claude;
Weissenbach, Jean;
Claverie, Jean-Michel;
Avner, Philip

Publication type:

Article

An 11 Base Pair Duplication in Exon 6 of the SMN Gene Produces a Type I Spinal Muscular Atrophy (SMA) Phenotype: Further Evidence For SMN as the Primary SMA-Determining Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1727, doi. 10.1093/hmg/5.11.1727

By:

Parsons, D. Williams;
McAndrew, Patricia E.;
Monani, Umrao R.;
Mendell, Jerry R.;
Burghes, Arthur H. M.;
Prior, Thomas W.

Publication type:

Article

The Drosophila Developmental Gene Fat Facets Has a Human Homologue in Xp11.4 Which Escapes X-inactivation and Has Related Sequences on Yq11.2.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1695, doi. 10.1093/hmg/5.11.1695

By:

Jones, Michael H.;
Furlong, Robert A.;
Burkin, Heather;
Jennifer Chalmers, I.;
Brown, Graeme M.;
Khwaja, Omar;
Affara, Nabeel A.

Publication type:

Article

Immunology of Gene Therapy with Adenoviral Vectors in Mouse Skeletal Muscle.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1703, doi. 10.1093/hmg/5.11.1703

By:

Yang, Yiping;
Ehlen Haecker, Sarah;
Su, Qin;
Wilson, James M.

Publication type:

Article

A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1733, doi. 10.1093/hmg/5.11.1733

By:

Wenstrup, Richard J.;
Langland, Gregory T.;
Willing, Marcia C.;
D'Souza, Vinita N.;
Cole, William G.

Publication type:

Article

Testis-Specific Protein, Y-Encoded (TSPY) Expression in Testicular Tissues.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1801, doi. 10.1093/hmg/5.11.1801

By:

Schnieders, Frank;
Dörk, Thilo;
Arnemann, Joachim;
Vogel, Tanja;
Werner, Martin;
Schmidtke, Jörg

Publication type:

Article

Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1777, doi. 10.1093/hmg/5.11.1777

By:

Parrish, Julia E.;
Scheuerle, Angela E.;
Lewis, Richard A.;
Levy, Moise L.;
Nelson, David L.

Publication type:

Article

Mutation of the Pancreatic Islet Inward Rectifier Kir6.2 Also Leads to Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1809, doi. 10.1093/hmg/5.11.1809

By:

Thomas, Pamela;
Ye, Yuyang;
Lightner, Elmer

Publication type:

Article

A Novel Heteroplasmic tRNAleu(CUN) mtDNA Point Mutation in a Sporadic Patient With Mitochondrial Encephalomyopathy Segregates Rapidly in Skeletal Muscle and Suggests an Approach to Therapy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1835

By:

Fu, Katherine;
Hartlen, Rebecca;
Johns, Timothy;
Genge, Angela;
Karpati, George;
Shoubridge, Eric A.

Publication type:

Article

A Repeated Element in the Regulatory Region of the MNK Gene and Its Deletion in A Patient With Occipital Horn Syndrome.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1737, doi. 10.1093/hmg/5.11.1737

By:

Levinson, Barbara;
Conant, Rebecca;
Schnur, Rhonda;
Das, Soma;
Packman, Seymour;
Gitschier, Jane

Publication type:

Article

A Novel Human Homologue of Yeast Nucleosome Assembly Protein, 65 kb Centromeric to the p57KIP2 Gene, is Biallelically Expressed in Fetal and Adult Tissues.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1743

By:

Hu, Ren-Ju;
Lee, Maxwell P.;
Johnson, Laura A.;
Feinberg, Andrew P.

Publication type:

Article

A Gene Transcribed from the Bidirectional ATM Promoter Coding for a Serine Rich Protein: Amino Acid Sequence, Structure and Expression Studies.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1785, doi. 10.1093/hmg/5.11.1785

By:

Byrd, Philip J.;
Cooper, Paul R.;
Stankovic, Tatjana;
Kullar, Harjit S.;
Watts, Giles D. J.;
Robinson, Paula J.;
Malcolm, A.;
Taylor, R.

Publication type:

Article

Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841

By:

McNally, Elizabeth M.;
Duggan, David;
Rafael Gorospe, J.;
Bönnemann, Carsten G.;
Fanin, Marina;
Pegoraro, Elena;
Lidov, Hart G. W.;
Noguchi, Satoru;
Ozawa, Eijiro;
Finkel, Richard S.;
Cruse, Robert P.;
Angelini, Corrado;
Kunkel, Louis M.;
Hoffman, Eric P.

Publication type:

Article

Mutation Rate Heterogeneity and the Generation of Allele Diversity at the Human Minisatellite MS205 (D16S309).

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1823, doi. 10.1093/hmg/5.11.1823

By:

May, Celia A.;
Jeffreys, Alec J.;
Armour, John A. L.

Publication type:

Article

Network Analysis of Human Y Microsatellite Haplotypes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1759, doi. 10.1093/hmg/5.11.1759

By:

Cooper, Gillian;
Amos, William;
Hoffman, Dorota;
Rubinsztein, David C.

Publication type:

Article

Mutations in the Sulfonylurea Receptor Gene Are Associated with Familial Hyperinsulinism in Ashkenazi Jews.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1813, doi. 10.1093/hmg/5.11.1813

By:

Nestorowicz, Ann;
Wilson, Beth Anne;
Schoor, Kathleen P.;
Inoue, Hiroshi;
Glaser, Benjamin;
Landau, Heddy;
Stanley, Charles A.;
Thornton, Paul S.;
Clement, John P.;
Bryan, Joseph;
Aguilar-Bryan, Lydia;
Permutt, M. Alan

Publication type:

Article