Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 9

Results: 28

Human Renin Binding Protein: Complete Genomic Sequence and Association of an Intronic T/C Polymorphism with the Prorenin Level in Males.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1527, doi. 10.1093/hmg/6.9.1527

By:

Knöll, Antje;
Schunkert, Heribert;
Reichwald, Kathrin;
Danser, A.H. Jan;
Bauer, David;
Platzer, Matthias;
Stein, Günter;
Rosenthal, André

Publication type:

Article

Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1573, doi. 10.1093/hmg/6.9.1573

By:

Weber, Birgit;
Guo, Xiao-Hui;
Wraith, J. Ed.;
Cooper, Alan;
Kleijer, Wim J.;
Bunge, Susanna;
Hopwood, John J.

Publication type:

Article

Altered Metabolism of Familial Alzheimer's Disease-Linked Amyloid Precursor Protein Variants in Yeast Artificial Chromosome Transgenic Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1535, doi. 10.1093/hmg/6.9.1535

By:

Lamb, Bruce T.;
Call, Linda M.;
Slunt, Hilda H.;
Bardel, Kimberly A.;
Lawler, Ann M.;
Eckman, Christopher B.;
Younkin, Steven G.;
Holtz, Greg;
Wagner, Steven L.;
Price, Donald L.;
Sisodia, Sangram S.;
Gearhart, John D.

Publication type:

Article

Cloning of Tabby, the Murine Homolog of the Human EDA Gene: Evidence for a Membrane-Associated Protein with a Short Collagenous Domain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1589, doi. 10.1093/hmg/6.9.1589

By:

Ferguson, Betsy M.;
Brockdorff, Neil;
Formstone, Emma;
Ngyuen, Tung;
Kronmiller, Jan E.;
Zonana, Jonathan

Publication type:

Article

An Unusual Pattern of Mutation in the Duplicated Portion of PKD1 Is Revealed by Use of a Novel Strategy for Mutation Detection.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1473, doi. 10.1093/hmg/6.9.1473

By:

Watnick, Terry J.;
Piontek, Klaus B.;
Cordal, Teresa M.;
Weber, Horst;
Gandolph, Michael A.;
Qian, Feng;
Lens, Xose M.;
Neumann, Hartmut P. H.;
Germino, Gregory G.

Publication type:

Article

The SYT Protein Involved in the t(X;18) Synovial Sarcoma Translocation is a Transcriptional Activator Localised in Nuclear Bodies.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1559, doi. 10.1093/hmg/6.9.1559

By:

Brett, David;
Whitehouse, Suzanna;
Antonson, Per;
Shipley, Janet;
Cooper, Colin;
Goodwin, Graham

Publication type:

Article

Anhidrotic Ectodermal Dysplasia (EDA) Protein Expressed in MCF-7 Cells Associates with Cell Membrane and Induces Rounding.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1581, doi. 10.1093/hmg/6.9.1581

By:

Ezer, Sini;
Schlessinger, David;
Srivastava, Anand;
Kere, Juha

Publication type:

Article

The Preliminary Transcript Map of a Human Skeletal Muscle.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1445, doi. 10.1093/hmg/6.9.1445

By:

Pallavicini, Alberto;
Zimbello, Rosanna;
Tiso, Natascia;
Muraro, Teresa;
Rampoldi, Luca;
Bortoluzzi, Stefania;
Valle, Giorgio;
Lanfranchi, Gerolamo;
Danieli, Gian A.

Publication type:

Article

Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic Beckwith-Wiedemann Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1543, doi. 10.1093/hmg/6.9.1543

By:

Joyce, Johanna A.;
Lam, Wayne K.;
Catchpoole, Daniel J.;
Jenks, Paul;
Reik, Wolf;
Maher, Eamonn R.;
Schofield, Paul N.

Publication type:

Article

Human Minisatellite MS32 (D1S8) Displays Somatic But Not Germline Instability in Transgenic Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1565, doi. 10.1093/hmg/6.9.1565

By:

Bois, Philippe;
Collick, Andrew;
Brown, Jane;
Jeffreys, Alec J.

Publication type:

Article

Characterization of a New BLM Mutation Associated with a Topoisomerase Ilα Defect in a Patient with Bloom's Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1427, doi. 10.1093/hmg/6.9.1427

By:

Foucault, Frédéric;
Vaury, Christelle;
Barakat, Abdelhamid;
Thibout, Déborah;
Planchon, Philippe;
Jaulin, Christian;
Praz, Françoise;
Amor-Guéret, Mounira

Publication type:

Article

The Human COX10 Gene is Disrupted During Homologous Recombination Between the 24 kb Proximal and Distal CMT1A-REPs.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1595, doi. 10.1093/hmg/6.9.1595

By:

Reiter, Lawrence T.;
Murakami, Tatsufumi;
Koeuth, Thearith;
Gibbs, Richard A.;
Lupski, James R.

Publication type:

Article

Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1505, doi. 10.1093/hmg/6.9.1505

By:

Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Vincent, Marie-Claire;
Mandel, Jean-Louis;
Tanner, Stephan M.;
Liechti-Gallati, Sabina;
Wallgren-Pettersson, Carina;
Dahl, Niklas;
Kress, Wolfram;
Bolhuis, Pieter A.;
Fardeau, Michel;
Samson, Françoise;
Bertini, Enrico

Publication type:

Article

A Susceptibility Locus for Early-Onset Non-Insulin Dependent (Type 2) Diabetes Mellitus Maps to Chromosome 20q, Proximal to the Phosphoenolpyruvate Carboxykinase Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1401, doi. 10.1093/hmg/6.9.1401

By:

Zouali, Habib;
Hani, El Habib;
Philippi, Anne;
Vionnet, Nathalie;
Beckmann, Jacques S.;
Demenais, Florence;
Froguel, Philippe

Publication type:

Article

Comparative Analysis of the Polycystic Kidney Disease 1 (PKD1) Gene Reveals an Integral Membrane Glycoprotein with Multiple Evolutionary Conserved Domains.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1483, doi. 10.1093/hmg/6.9.1483

By:

Sandford, Richard;
Sgotto, Barbara;
Aparicio, Sam;
Brenner, Sydney;
Vaudin, Mark;
Wilson, Richard K.;
Chissoe, Stephanie;
Pepin, Kym;
Bateman, Alex;
Chothia, Cyrus;
Hughes, Jim;
Harris, Peter

Publication type:

Article

Nuclear Localization of SYT, SSX and the Synovial Sarcoma-Associated SYT-SSX Fusion Proteins.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1549, doi. 10.1093/hmg/6.9.1549

By:

dos Santos, Nuno R.;
de Bruijn, Diederik R. H.;
Balemans, Matthé;
Janssen, Bert;
Gärtner, Fátima;
Lopes, José Manuel;
de Leeuw, Bertie;
Geurts van Kessel, Ad

Publication type:

Article

Familial Hypomagnesemia Maps to Chromosome 9q, not to the X Chromosome: Genetic Linkage Mapping and Analysis of a Balanced Translocation Breakpoint.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1491, doi. 10.1093/hmg/6.9.1491

By:

Walder, R.Y.;
Shalev, H.;
Brennan, T.M.H.;
Carmi, R.;
Elbedour, K.;
Scott, D.A.;
Hanauer, A.;
Mark, A.L.;
Patil, S.;
Stone, E.M.;
Sheffield, V.C.

Publication type:

Article

Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1499, doi. 10.1093/hmg/6.9.1499

By:

de Gouyon, Beatrice M.;
Zhao, Wei;
Laporte, Jocelyn;
Mandel, Jean-Louis;
Metzenberg, Aida;
Herman, Gail E.

Publication type:

Article

High Expression of Naked Plasmid DNA in Muscles of Young Rodents.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1435, doi. 10.1093/hmg/6.9.1435

By:

Danko, I.;
Williams, P.;
Herweijer, H.;
Zhang, G.;
Latendresse, J.S.;
Bock, I.;
Wolff, J.A.

Publication type:

Article

Strategems in Vitro for Gene Therapies Directed to Dominant Mutations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1415, doi. 10.1093/hmg/6.9.1415

By:

Millington-Ward, Sophia;
O'Neill, Brian;
Tuohy, Gearoid;
Al-Jandal, Najma;
Kiang, Anna-Sophia;
Kenna, Paul F.;
Palfi, Arpad;
Hayden, Patrick;
Mansergh, Fiona;
Kennan, Avril;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article

The Fragile X Mental Retardation Protein is Associated with Poly(A)+ mRNA in Actively Translating Polyribosomes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1465, doi. 10.1093/hmg/6.9.1465

By:

Corbin, François;
Bouillon, Marlène;
Fortin, Anny;
Morin, Stanislas;
Rousseau, François;
Khandjian, Edouard W.

Publication type:

Article

Expression and Kinetic Characterization of Methylmalonyl-CoA Mutase from Patients with the Mut− Phenotype: Evidence for Naturally Occurring Interallelic Complementation.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1457, doi. 10.1093/hmg/6.9.1457

By:

Janata, Jirί;
Kogekar, Nandini;
Fenton, Wayne A.

Publication type:

Article

Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1605, doi. 10.1093/hmg/6.9.1605

By:

Zelante, Leopoldo;
Gasparini, Paolo;
Estivill, Xavier;
Melchionda, Salvatore;
D'Agruma, Leonardo;
Govea, Nancy;
Milá, Monserrat;
Della Monica, Matteo;
Lutfi, Jaber;
Shohat, Mordechai;
Mansfield, Elaine;
Delgrosso, Kathleen;
Rappaport, Eric;
Surrey, Saul;
Fortina, Paolo

Publication type:

Article

Huntingtin-Associated Protein 1 (HAP1) Binds to a Trio-Like Polypeptide, with a rac1 Guanine Nucleotide Exchange Factor Domain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1519, doi. 10.1093/hmg/6.9.1519

By:

Colomer, V.;
Engelender, S.;
Sharp, A.H.;
Duan, K.;
Cooper, J.K.;
Lanahan, A.;
Lyford, G.;
Worley, P.;
Ross, C.A.

Publication type:

Article

Characterization of Susceptible Chiasma Configurations that Increase the Risk for Maternal Nondisjunction of Chromosome 21.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1391, doi. 10.1093/hmg/6.9.1391

By:

Lamb, Neil E.;
Feingold, Eleanor;
Savage, Amanda;
Avramopoulos, Dimitris;
Freeman, Sallie;
Gu, Yuanchao;
Hallberg, Anni;
Hersey, Jane;
Karadima, Georgia;
Pettay, Dorothy;
Saker, Denise;
Shen, Joe;
Taft, Lisa;
Mikkelsen, Margareta;
Petersen, Michael B.;
Hassold, Terry;
Sherman, Stephanie L.

Publication type:

Article

Identification of a 14 kb Deletion Involving the Promoter Region of BRCA1 in a Breast Cancer Family.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1513, doi. 10.1093/hmg/6.9.1513

By:

Swensen, Jeff;
Hoffman, Michael;
Skolnick, Mark H.;
Neuhausen, Susan L.

Publication type:

Article

Functional Correction of Short-Chain Acyl-CoA Dehydrogenase Deficiency in Transgenic Mice: Implications for Gene Therapy of Human Mitochondrial Enzyme Deficiencies.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1451, doi. 10.1093/hmg/6.9.1451

By:

Kelly, C. Lisa;
Rhead, William J.;
Kutschke, William K.;
Brix, Amy E.;
Hamm, Doug A.;
Pinkert, Carl A.;
Lindsey, J. Russell;
Wood, Philip A.

Publication type:

Article

Mutations in the TSC2 Gene: Analysis of the Complete Coding Sequence Using the Protein Truncation Test (PTT).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1409, doi. 10.1093/hmg/6.9.1409

By:

van Bakel, Inge;
Sepp, Tiina;
Ward, Susannah;
Yates, John R.W.;
Green, Andrew J.

Publication type:

Article