Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 8

Results: 25

Human Mini-Chromosomes in Mouse Embryonal Stem Cells.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1375, doi. 10.1093/hmg/6.8.1375

By:

Shen, M. H.;
Yang, J.;
Loupart, M.-L.;
Smith, A.;
Brown, W.

Publication type:

Article

Characterization of Unconventional MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell's Waltzer Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1225, doi. 10.1093/hmg/6.8.1225

By:

Avraham, Karen B.;
Hasson, Tama;
Sobe, Tama;
Balsara, Binaifer;
Testa, Joseph R.;
Skvorak, Anne B.;
Morton, Cynthia C.;
Copeland, Neal G.;
Jenkins, Nancy A.

Publication type:

Article

Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1383, doi. 10.1093/hmg/6.8.1383

By:

Nelen, Marcel R.;
van Staveren, Wilma C. G.;
Peeters, Els A. J.;
Ben Hassel, Mohammed;
Gorlin, Robert J.;
Hamm, Henning;
Lindboe, Christian F.;
Fryns, Jean-Pierre;
Sijmons, Rolf H.;
Woods, D. Geoffrey;
Mariman, Edwin C. M.;
Padberg, George W.;
Kremer, Hannie

Publication type:

Article

The Friedreich Ataxia GAA Triplet Repeat: Premutation and Normal Alleles.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1261, doi. 10.1093/hmg/6.8.1261

By:

Montermini, Laura;
Andermann, Eva;
Labuda, Margaret;
Richter, Andrea;
Pandolfo, Massimo;
Cavalcanti, Francesca;
Pianese, Luigi;
Iodice, Luisa;
Farina, Gerardina;
Monticelli, Antonella;
Turano, Mimmo;
Filla, Alessandro;
De Michele, Giuseppe;
Cocozza, Sergio

Publication type:

Article

Differential Expression of FMR1, FXR1 and FXR2 Proteins in Human Brain and Testis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1315, doi. 10.1093/hmg/6.8.1315

By:

Tamanini, Filippo;
Willemsen, Rob;
van Unen, Leontine;
Bontekoe, Carola;
Galjaard, Hans;
Oostra, Ben A.;
Hoogeveen, André T.

Publication type:

Article

Characterization of Neo-Centromeres in Marker Chromosomes Lacking Detectable Alpha-satellite DNA.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1195, doi. 10.1093/hmg/6.8.1195

By:

Depinet, Theresa W.;
Zackowski, Joleen L.;
Earnshaw, William C.;
Kaffe, Sara;
Sekhon, Gurbax S.;
Stallard, Richard;
Sullivan, Beth A.;
Vance, Gail H.;
Van Dyke, Daniel L.;
Willard, Huntington F.;
Zinn, Arthur B.;
Schwartz, Stuart

Publication type:

Article

The Survival Motor Neuron Protein in Spinal Muscular Atrophy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1205, doi. 10.1093/hmg/6.8.1205

By:

Coovert, Daniel D.;
Le, Thanh T.;
McAndrew, Patricia E.;
Strasswimmer, John;
Crawford, Thomas O.;
Mendell, Jerry R.;
Coulson, Susan E.;
Androphy, Elliot J.;
Prior, Thomas W.;
Burghes, Arthur H. M.

Publication type:

Article

The Twist Gene, Although Not Disrupted In Saethre-Chotzen Patients With Apparently Balanced Translocations of 7p21, Is Mutated In Familial and Sporadic Cases.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1369, doi. 10.1093/hmg/6.8.1369

By:

Rose, C.S. P.;
Patel, P.;
Reardon, W.;
Malcolm, S.;
Winter, R. M.

Publication type:

Article

Behaviour of a Population of Partially Duplicated Mitochondrial DNA Molecules in Cell Culture: Segregation, Maintenance and Recombination Dependent Upon Nuclear Background.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1251, doi. 10.1093/hmg/6.8.1251

By:

Holt, I. J.;
Dunbar, D. R.;
Jacobs, H. T.

Publication type:

Article

Evidence for Two Psoriasis Susceptibility Loci (HLA and 17q) and Two Novel Candidate Regions (16q and 20p) by Genome-Wide Scan.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1349, doi. 10.1093/hmg/6.8.1349

By:

Nair, Rajan P.;
Henseler, Tilo;
Jenisch, Stefan;
Stuart, Philip;
Bichakjian, Christopher K.;
Lenk, Winfried;
Westphal, Eckhard;
Guo, Sun-Wei;
Christophers, Enno;
Voorhees, John J.;
Elder, James T.

Publication type:

Article

XIST Expression from the Maternal X Chromosome in Human Male Preimplantation Embryos at the Blastocyst Stage.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1323, doi. 10.1093/hmg/6.8.1323

By:

Ray, Pierre F.;
Winston, Robert M. L.;
Handyside, Alan H.

Publication type:

Article

Cloning, mRNA Distribution and Chromosomal Localisation of the Gene for Glial Cell Line-Derived Neurotrophic Factor Receptor β, a Homologue to GDNFR-α.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1267, doi. 10.1093/hmg/6.8.1267

By:

Suvanto, Petro;
Wartiovaara, Kirmo;
Lindahl, Maria;
Arumäe, Urmas;
Moshnyakov, Maxim;
Horelli-Kuitunen, Nina;
Airaksinen, Matti S.;
Palotie, Aarno;
Sariola, Hannu;
Saarma, Mart

Publication type:

Article

Insulin-Dependent Diabetes Mellitus (IDDM) Is Associated with CTLA4 Polymorphisms in Multiple Ethnic Groups.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1275, doi. 10.1093/hmg/6.8.1275

By:

Marron, Michele P.;
Raffel, Leslie J.;
Garchon, Henri-Jean;
Jacob, Chaim O.;
Serrano-Rios, Manuel;
Martinez Larrad, Maria T.;
Teng, Wei-Ping;
Park, Yongsoo;
Zhang, Zhi-Xing;
Goldstein, Darlene R.;
Tao, Yi-Wen;
Beaurain, Genevieve;
Bach, Jean-Francois;
Huang, Hong-So;
Luo, De-Fang;
Zeidler, Adina;
Rotter, Jerome I.;
Yang, Mark C. K.;
Modilevsky, Tamara;
Maclaren, Noel K.

Publication type:

Article

Autism and Multiple Exostoses Associated with an X;8 Translocation Occurring Within the GRPR Gene and 3′ to the SDC2 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1241, doi. 10.1093/hmg/6.8.1241

By:

Ishikawa-Brush, Yumiko;
Powell, John F.;
Bolton, Patrick;
Miller, Andrew P.;
Francis, Fiona;
Willard, Huntington F.;
Lehrach, Hans;
Monaco, Anthony P.

Publication type:

Article

Genomic and Mutational Analysis of the Mitochondrial Trifunctional Protein β-Subunit (HADHB) Gene in Patients with Trifunctional Protein Deficiency.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1215, doi. 10.1093/hmg/6.8.1215

By:

Orii, Kenji E.;
Aoyama, Toshifumi;
Wakui, Keiko;
Fukushima, Yoshimitsu;
Miyajima, Hiroaki;
Yamaguchi, Seiji;
Orii, Tadao;
Kondo, Naomi;
Hashimoto, Takashi

Publication type:

Article

Linkage Analysis of Candidate Regions for Coeliac Disease Genes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1335, doi. 10.1093/hmg/6.8.1335

By:

Houlston, R. S.;
Tomlinson, I. P. M.;
Ford, D.;
Seal, S.;
Marossy, A. M.;
Ferguson, A.;
Holmes, G. K. T.;
Hosie, K. B.;
Howdle, P. D.;
Jewell, D. P.;
Godkin, A.;
Kerr, G. D.;
Kumar, P.;
Logan, R. F. A.;
Love, A. H. G.;
Johnston, S.;
Marsh, M. N.;
Mitton, S.;
O'Donoghue, D.;
Roberts, A.

Publication type:

Article

Characterisation of Renal Chloride Channel, CLCN5, Mutations in Hypercalciuric Nephrolithiasis (Kidney Stones) Disorders.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1233, doi. 10.1093/hmg/6.8.1233

By:

Lloyd, Sarah E.;
Günther, Willy;
Pearce, Simon H.S.;
Thomson, Amelia;
Bianchi, Maria L.;
Bosio, Maurizio;
Craig, Ian W.;
Fisher, Simon E.;
Scheinman, Steven J.;
Wrong, Oliver;
Jentsch, Thomas J.;
Thakker, Rajesh V.

Publication type:

Article

Molecular Features of the CAG Repeats of Spinocerebellar Ataxia 6 (SCA6).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1283, doi. 10.1093/hmg/6.8.1283

By:

Matsuyama, Zenjiro;
Kawakami, Hideshi;
Maruyama, Hirofumi;
Izumi, Yuishin;
Komure, Osamu;
Udaka, Fukashi;
Kameyama, Masakuni;
Nishio, Takeshi;
Kuroda, Yasuo;
Nishimura, Masataka;
Nakamura, Shigenobu

Publication type:

Article

Generation of Novel Human MHC Class II Mutant B-Cell Lines by Integrating YAC DNA into a Cell Line Homozygously Deleted for the MHC Class II Region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1295, doi. 10.1093/hmg/6.8.1295

By:

Fabb, Stewart A.;
Davies, Angela F.;
Correa, Isabel;
Kelly, Adrian P.;
Mackie, Caroline;
Trowsdale, John;
Ragoussis, Jiannis

Publication type:

Article

A High Frequency African Coding Polymorphism in the N-Terminal Domain of ICAM-1 Predisposing to Cerebral Malaria in Kenya.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1357, doi. 10.1093/hmg/6.8.1357

By:

Fernandez-Reyes, D.;
Craig, A. G.;
Kyes, S. A.;
Peshu, N.;
Snow, R. W.;
Berendt, A. R.;
Marsh, K.;
Newbold, C. I.

Publication type:

Article

Transfection Screening for Primary Defects in the Pyruvate Dehydrogenase E1α Subunit Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1361, doi. 10.1093/hmg/6.8.1361

By:

Brown, Ruth M.;
Otero, Lucy J.;
Brown, Garry K.

Publication type:

Article

SCA6 is Caused by Moderate CAG Expansion in the α1A-Voltage-Dependent Calcium Channel Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1289, doi. 10.1093/hmg/6.8.1289

By:

Riess, Olaf;
Schöls, Ludger;
Böttger, Heike;
Nolte, Dagmar;
Vieira-Saecker, Ana Maria Menezes;
Schimming, Carmen;
Kreuz, Friedmar;
Macek, Milan;
Krebsová, Alice;
Sen, Milan Macek;
Klockgether, Thomas;
Zühlke, Christine;
Laccone, Franco A.

Publication type:

Article

Sequence Comparison of Human and Yeast Telomeres Identifies Structurally Distinct Subtelomeric Domains.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1305, doi. 10.1093/hmg/6.8.1305

By:

Flint, J.;
Bates, G. P.;
Clark, K.;
Dorman, A.;
Willingham, D.;
Roe, B. A.;
Micklem, G.;
Higgs, D. R.;
Louis, E. J.

Publication type:

Article

PHOG, a Candidate Gene for Involvement in the Short Stature of Turner Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1341, doi. 10.1093/hmg/6.8.1341

By:

Ellison, Jay W.;
Wardak, Zabihullah;
Young, Marian F.;
Gehron Robey, Pamela;
Laig-Webster, Marion;
Chiong, Winston

Publication type:

Article

Genetic Mapping of a Major Susceptibility Locus for Juvenile Myoclonic Epilepsy on Chromosome 15q.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 8, p. 1329, doi. 10.1093/hmg/6.8.1329

By:

Elmslie, Frances V.;
Rees, Michele;
Williamson, Magali P.;
Kerr, Michael;
Kjeldsen, Marianne J.;
An Pang, Kiang;
Sundqvist, Anders;
Friis, Mögens L.;
Chadwick, David;
Richens, Alan;
Covanis, Athanasios;
Santos, Manuela;
Arzimanoglou, Alexis;
Panayiotopoulos, Chrysostomos P.;
Curtis, David;
Whitehouse, William P.;
Gardiner, R. Mark

Publication type:

Article