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

Results: 25

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
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
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
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
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 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
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
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
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
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
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
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
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
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