Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 11

Results: 29

Population Genetics and Disease Susceptibility: Characterization of Central European Haplogroups By mtDNA Gene Mutations, Correlation with D Loop Variants and Association With Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1835, doi. 10.1093/hmg/6.11.1835

By:

Hofmann, Sabine;
Jaksch, Michaela;
Bezold, Reimar;
Mertens, Sabine;
Aholt, Simone;
Paprotta, Armin;
Gerbitz, Klaus-Dieter

Publication type:

Article

A Novel Phenotypic Pattern in X-Linked Inheritance: Craniofrontonasal Syndrome Maps to Xp22.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1937, doi. 10.1093/hmg/6.11.1937

By:

Feldman, George J.;
Ward, Deeann E.;
Lajeunie-Renier, Elisabeth;
Saavedra, Dolores;
Robin, Nathaniel H.;
Proud, Virginia;
Robb, Laura J.;
Der Kaloustian, Vazken;
Carey, John C.;
Cohen, M. Michael;
Cormier, Valerie;
Munnich, Arnold;
Zackai, Elaine H.;
Wilkie, Andrew O. M.;
Arlen Price, R.;
Muenke, Maximilian

Publication type:

Article

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1991, doi. 10.1093/hmg/6.11.1991

By:

Maheshwar, Magitha M.;
Cheadle, Jeremy P.;
Jones, Alistair C.;
Myring, Jenny;
Fryer, Alan E.;
Harris, Peter C.;
Sampson, Julian R.

Publication type:

Article

Characterization of Melanocyte Stimulating Hormone Receptor Variant Alleles in Twins with Red Hair.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1891, doi. 10.1093/hmg/6.11.1891

By:

Box, Neil F.;
Wyeth, Jason R.;
O'Gorman, Louise E.;
Martin, Nicholas G.;
Sturm, Richard A.

Publication type:

Article

Cloning of a Novel Transcription Factor-Like Gene Amplified in Human Glioma Including Astrocytoma Grade I.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1817, doi. 10.1093/hmg/6.11.1817

By:

Fischer, Ulrike;
Heckel, Dirk;
Michel, Armin;
Janka, Michael;
Hulsebos, Theo;
Meese, Eckart

Publication type:

Article

Genomic Structure and Parent-of-Origin-Specific Methylation of Peg1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1907, doi. 10.1093/hmg/6.11.1907

By:

Lefebvre, Louis;
Viville, Stéphane;
Barton, Sheila C.;
Ishino, Fumitoshi;
Surani, M. Azim

Publication type:

Article

Differential Expression Pattern of XqPAR-Linked Genes SYBL1 and IL9R Correlates with the Structure and Evolution of the Region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1917, doi. 10.1093/hmg/6.11.1917

By:

D'Esposito, Maurizio;
Matarazzo, Maria Rosaria;
Ciccodicola, Alfredo;
Strazzullo, Maria;
Mazzarella, Richard;
Quaderi, Nandita A.;
Fujiwara, Hiroyuki;
Ko, Minoru S. H.;
Rowe, Lucy B.;
Ricco, Angela;
Archidiacono, Nicoletta;
Rocchi, Mariano;
Schlessinger, David;
D'Urso, Michele

Publication type:

Article

Linkage Between Markers in the Vicinity of the Uncoupling Protein 2 Gene and Resting Metabolic Rate in Humans.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1887, doi. 10.1093/hmg/6.11.1887

By:

Bouchard, Claude;
Pérusse, Louis;
Chagnon, Yvon C.;
Warden, Craig;
Ricquier, Daniel

Publication type:

Article

Abnormal XY Interchange between a Novel Isolated Protein Kinase Gene, PRKY, and Its Homologue, PRKX, Accounts for One Third of All (Y+)XX Males and (Y-)XY Females.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1985, doi. 10.1093/hmg/6.11.1985

By:

Schiebel, Katrin;
Winkelmann, Martina;
Mertz, Annelyse;
Xu, Xiaoling;
Page, David C.;
Weil, Dominique;
Petit, Christine;
Rappold, Gudrun A.

Publication type:

Article

A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1855, doi. 10.1093/hmg/6.11.1855

By:

Breschel, T.S.;
McInnis, M.G.;
Margolis, R.L.;
Sirugo, G.;
Corneliussen, B.;
Simpson, S.G.;
McMahon, F.J.;
MacKinnon, D.F.;
Xu, J.F.;
Pleasant, N.;
Huo, Y.;
Ashworth, R.G.;
Grundstrom, C.;
Grundstrom, T.;
Kidd, K.K.;
DePaulo, J.R.;
Ross, C.A.

Publication type:

Article

Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1961, doi. 10.1093/hmg/6.11.1961

By:

Battaglia, Giorgio;
Princivalle, Alessandra;
Forti, Francesca;
Lizier, Carlotta;
Zeviani, Massimo

Publication type:

Article

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1847, doi. 10.1093/hmg/6.11.1847

By:

Roessler, Erich;
Belloni, Elena;
Gaudenz, Karin;
Vargas, Fernando;
Scherer, Stephen W.;
Tsui, Lap-Chee;
Muenke, Maximilian

Publication type:

Article

Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1865, doi. 10.1093/hmg/6.11.1865

By:

Canfield, Marie C.;
Tamarappoo, B. K.;
Moses, Arnold M.;
Verkman, A. S.;
Holtzman, Eli J.

Publication type:

Article

X-Linked Glycerol Kinase Deficiency in the Mouse Leads to Growth Retardation, Altered Fat Metabolism, Autonomous Glucocorticoid Secretion and Neonatal Death.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1803, doi. 10.1093/hmg/6.11.1803

By:

Mahbubul Huq, A. H. M.;
Lovell, Rhonda S.;
Ou, Ching-Nan;
Beaudet, Arthur L.;
Craigen, William J.

Publication type:

Article

Genetic Modification of the Phenotypes Produced by Amyloid Precursor Protein Overexpression in Transgenic Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1951, doi. 10.1093/hmg/6.11.1951

By:

Carlson, George A.;
Borchelt, David R.;
Dake, Angela;
Turner, Sherry;
Danielson, Valerie;
Coffin, J. Douglas;
Eckman, Chris;
Meiners, James;
Nilsen, Steven P.;
Younkin, Steven G.;
Hsiao, Karen K.

Publication type:

Article

Abnormal FGFR 3 Expression in Cartilage of Thanatophoric Dysplasia Fetuses.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1899, doi. 10.1093/hmg/6.11.1899

By:

Delezoide, Anne-Lise;
Lasselin-Benoist, Catherine;
Legeai-Mallet, Laurence;
Brice, Peggy;
Senée, Valérie;
Yayon, Avner;
Munnich, Arnold;
Vekemans, Michel;
Bonaventure, Jacky

Publication type:

Article

Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1943, doi. 10.1093/hmg/6.11.1943

By:

Wollnik, Bernd;
Schroeder, Björn C.;
Kubisch, Christian;
Esperer, Hans D.;
Wieacker, Peter;
Jentsch, Thomas J.

Publication type:

Article

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1811, doi. 10.1093/hmg/6.11.1811

By:

Nielsen, Jørgen E.;
Koefoed, Pernille;
Abell, Kathrine;
Hasholt, Lis;
Eiberg, Hans;
Fenger, Kirsten;
Niebuhr, Erik;
Sørensen, Sven Asger

Publication type:

Article

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1973, doi. 10.1093/hmg/6.11.1973

By:

Jodice, Carla;
Mantuano, Elide;
Veneziano, Liana;
Trettel, Flavia;
Sabbadini, Guglielmo;
Calandriello, Luigi;
Francia, Ada;
Spadaro, Maria;
Pierelli, Francesco;
Salvi, Fabrizio;
Ophoff, Roel A.;
Frants, Rune R.;
Frontali, Marina

Publication type:

Article

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1771, doi. 10.1093/hmg/6.11.1771

By:

Campuzano, Victoria;
Montermini, Laura;
Lutz, Yves;
Cova, Lidia;
Hindelang, Colette;
Jiralerspong, Sarn;
Trottier, Yvon;
Kish, Stephen J.;
Faucheux, Baptiste;
Trouillas, Paul;
Authier, François J.;
Dürr, Alexandra;
Mandel, Jean-Louis;
Vescovi, Angelo;
Pandolfo, Massimo;
Koenig, Michel

Publication type:

Article

Point Mutations in Human GLI3 Cause Greig Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1979, doi. 10.1093/hmg/6.11.1979

By:

Wild, Anja;
Kalff-Suske, Martha;
Vortkamp, Andrea;
Bornholdt, Dorothea;
Kônig, Rainer;
Grzeschik, Karl-Heinz

Publication type:

Article

Reciprocal Effect of Waardenburg Syndrome Mutations on DNA Binding by the Pax-3 Paired Domain and Homeodomain.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1781, doi. 10.1093/hmg/6.11.1781

By:

Fortin, Anouk S.;
Underhill, D. Alan;
Gros, Philippe

Publication type:

Article

Apoptotic Cell Death in Mouse Models of GM2 Gangliosidosis and Observations on Human Tay-Sachs and Sandhoff Diseases.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1879, doi. 10.1093/hmg/6.11.1879

By:

Huang, Jing-Qi;
Trasler, Jacquetta M.;
Igdoura, Suleiman;
Michaud, Jean;
Hanai, Nobuo;
Gravel, Roy A.

Publication type:

Article

CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1829, doi. 10.1093/hmg/6.11.1829

By:

Joehrer, Karin;
Geley, Stephan;
Strasser-Wozak, Elisabeth M.C.;
Azziz, Ricardo;
Wollmann, Hartmut A.;
Schmitt, Klaus;
Kofler, Reinhard;
White, Perrin C.

Publication type:

Article

Synergy Between the Genes for Butyrylcholinesterase K Variant and Apolipoprotein E4 in Late-Onset Confirmed Alzheimer's Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1933, doi. 10.1093/hmg/6.11.1933

By:

Lehmann, D. J.;
Johnston, C.;
Smith, A. D.

Publication type:

Article

The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1873, doi. 10.1093/hmg/6.11.1873

By:

MacDonald, Heather R.;
Wevrick, Rachel

Publication type:

Article

Identification of a Fourth Half ABC Transporter in the Human Peroxisomal Membrane.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1925, doi. 10.1093/hmg/6.11.1925

By:

Shani, Noam;
Jimenez-Sanchez, Gerardo;
Steel, Gary;
Dean, Michael;
Valle, David

Publication type:

Article

Epigenetic Variation Illustrated by DNA Methylation Patterns of the Fragile-X Gene FMR1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1791, doi. 10.1093/hmg/6.11.1791

By:

Stöger, Reinhard;
Kajimura, Tina M.;
Brown, W. Ted;
Laird, Charles D.

Publication type:

Article

Mapping of Both Autosomal Recessive and Dominant Variants of Pseudoxanthoma Elasticum to Chromosome 16p13.1.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 11, p. 1823, doi. 10.1093/hmg/6.11.1823

By:

Struk, Berthold;
Neldner, Kenneth H.;
Rao, Valluri S.;
St Jean, Pamela;
Lindpaintner, Klaus

Publication type:

Article