Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 12

Results: 23

Isolation of a Candidate Human Telomerase Catalytic Subunit Gene, Which Reveals Complex Splicing Patterns in Different Cell Types.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2011, doi. 10.1093/hmg/6.12.2011

By:

Kilian, Andrzej;
Bowtell, David D.L.;
Abud, Helen E.;
Hime, Gary R.;
Venter, Deon J.;
Keese, Paul K.;
Duncan, Emma L.;
Reddel, Roger R.;
Jefferson, Richard A.

Publication type:

Article

Genetic Control of Serum IgE Levels and Asthma: Linkage and Linkage Disequilibrium Studies in an Isolated Population.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2069, doi. 10.1093/hmg/6.12.2069

By:

Laitinen, Tarja;
Kauppi, Paula;
Ignatius, Jaakko;
Ruotsalainen, Tarja;
Daly, Mark J.;
Kääriäinen, Helena;
Kruglyak, Leonid;
Laitinen, Hannu;
de la Chapelle, Albert;
Lander, Eric S.;
Laitinen, Lauri A.;
Kere, Juha

Publication type:

Article

Evidence for Uniparental, Paternal Expression of the Human GABAA Receptor Subunit Genes, Using Microcell-Mediated Chromosome Transfer.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2127, doi. 10.1093/hmg/6.12.2127

By:

Meguro, Makiko;
Mitsuya, Kohzoh;
Sui, Hajime;
Shigenami, Katsuyo;
Kugoh, Hiroyuki;
Nakao, Mitsuyoshi;
Oshimura, Mitsuo

Publication type:

Article

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2091, doi. 10.1093/hmg/6.12.2091

By:

Adam, Marie F.;
Belmouden, Ahmed;
Binisti, Philippe;
Brézin, Antoine P.;
Valtot, Françoise;
Béchetoille, Alain;
Dascotte, Jean-Claude;
Copin, Bruno;
Gomez, Lucienne;
Chaventré, André;
Bach, Jean-François;
Garchon, Henri-Jean

Publication type:

Article

Distortion of Allelic Expression of Apolipoprotein E in Alzheimer's Disease.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2151, doi. 10.1093/hmg/6.12.2151

By:

Lambert, Jean-Charles;
Pérez-Tur, Jordi;
Dupire, Marie-Joëlle;
Galasko, Douglas;
Mann, David;
Amouyel, Philippe;
Hardy, John;
Delacourte, André;
Chartier-Harlin, Marie-Christine

Publication type:

Article

Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2005, doi. 10.1093/hmg/6.12.2005

By:

Andrew, Susan E.;
Goldberg, Y. Paul;
Hayden, Michael R.

Publication type:

Article

Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2077, doi. 10.1093/hmg/6.12.2077

By:

Julier, Cécile;
Delépine, Marc;
Keavney, Bernard;
Terwilliger, Joseph;
Davis, S.;
Weeks, Daniel E.;
Bui, Thuan;
Jeunemaître, Xavier;
Velho, Gilberto;
Froguel, Philippe;
Ratcliffe, Peter;
Corvol, Pierre;
Soubrier, Florent;
Mark Lathrop, G.

Publication type:

Article

A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of Aβ42(43).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2087, doi. 10.1093/hmg/6.12.2087

By:

Eckman, Christopher B.;
Mehta, Nitin D.;
Crook, Richard;
Perez-tur, Jordi;
Prihar, Guy;
Pfeiffer, Eric;
Graff-Radford, Neill;
Hinder, Paul;
Yager, Debra;
Zenk, Brenda;
Refolo, Lawrence M.;
Mihail Prada, Cristian;
Younkin, Steven G.;
Hutton, Mike;
Hardy, John

Publication type:

Article

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2155, doi. 10.1093/hmg/6.12.2155

By:

Jones, Alistair C.;
Daniells, Claire E.;
Snell, Russell G.;
Tachataki, Maria;
Idziaszczyk, Shelley A.;
Krawczak, Michael;
Sampson, Julian R.;
Cheadle, Jeremy P.

Publication type:

Article

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2173, doi. 10.1093/hmg/6.12.2173

By:

Denoyelle, Françoise;
Weil, Dominique;
Maw, Marion A.;
Wilcox, Stephen A.;
Lench, Nicholas J.;
Allen-Powell, Denise R.;
Osborn, Amelia H.;
Dahl, Hans-Henrik M.;
Middleton, Anna;
Houseman, Mark J.;
Dodé, Catherine;
Marlin, Sandrine;
Boulila-ElGaïed, Amel;
Grati, Mohammed;
Ayadi, Hammadi;
BenArab, Saïda;
Bitoun, Pierre;
Lina-Granade, Geneviève;
Godet, Jacqueline;
Mustapha, Mirna

Publication type:

Article

Aberrant Processing of the Fugu HD (FrHD) mRNA in Mouse Cells and in Transgenic Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2141, doi. 10.1093/hmg/6.12.2141

By:

Sathasivam, Kirupa;
Baxendale, Sarah;
Mangiarini, Laura;
Bertaux, Fabien;
Hetherington, Colin;
Kanazawa, Ichiro;
Lehrach, Hans;
Bates, Gillian P.

Publication type:

Article

cDNA Cloning and Chromosomal mapping of a Predicted Coiled-Coil Proline-Rich Protein Immunogenic in Meningioma Patients.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2031, doi. 10.1093/hmg/6.12.2031

By:

Heckel, Dirk;
Brass, Nicole;
Fischer, Ulrike;
Blin, Nikolaus;
Steudel, Ingo;
Tureci, Özlem;
Fackler, Oliver;
Zang, Klaus D.;
Meese, Eckart

Publication type:

Article

Isolation of a New Homeobox Gene Belonging to the Pitx/Rieg Family: Expression During Lens Development and Mapping to the Aphakia Region on Mouse Chromosome 19.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2109, doi. 10.1093/hmg/6.12.2109

By:

Semina, Elena V.;
Reiter, Rebecca S.;
Murray, Jeffrey C.

Publication type:

Article

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2179, doi. 10.1093/hmg/6.12.2179

By:

Tyson, Jessica;
Tranebjærg, Lisbeth;
Bellman, Sue;
Wren, Christopher;
Taylor, James F.N.;
Bathen, Jørn;
Aslaksen, Bjørn;
Sørland, Svein Jan;
Lund, Ole;
Malcolm, Sue;
Pembrey, Marcus;
Bhattacharya, Shømi;
Bitner-Glindzicz, Maria

Publication type:

Article

Germline Mutations of the CDKN2 Gene in UK Melanoma Families.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2061, doi. 10.1093/hmg/6.12.2061

By:

Harland, Mark;
Meloni, Rolando;
Gruis, Nelleke;
Pinney, Elizabeth;
Brookes, Sharon;
Spurr, Nigel K.;
Frischauf, Anna-Marie;
Bataille, Veronique;
Peters, Gordon;
Cuzick, Jack;
Selby, Peter;
Bishop, D. Timothy;
Bishop, Julia Newton

Publication type:

Article

Increased Trinucleotide Repeat Instability with Advanced Maternal Age.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2135, doi. 10.1093/hmg/6.12.2135

By:

Kaytor, Michael D.;
Burright, Eric N.;
Duvick, Lisa A.;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

Two Different Connexin 26 Mutations in an Inbred Kindred Segregating Non-Syndromic Recessive Deafness: Implications for Genetic Studies in Isolated Populations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2163, doi. 10.1093/hmg/6.12.2163

By:

Carrasquillo, Minerva M.;
Zlotogora, Joel;
Barges, Saleh;
Chakravarti, Aravinda

Publication type:

Article

The Human GARS-AIRS-GART Gene Encodes Two Proteins Which Are Differentially Expressed during Human Brain Development and Temporally Overexpressed in Cerebellum of Individuals with Down Dyndrome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2043, doi. 10.1093/hmg/6.12.2043

By:

Brodsky, Gary;
Barnes, Tristan;
Bleskan, John;
Becker, Laurence;
Cox, Marlin;
Patterson, David

Publication type:

Article

Mammalian Telomerase: Catalytic Subunit and Knockout Mice.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 1999, doi. 10.1093/hmg/6.12.1999

By:

Kipling, David

Publication type:

Article

Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2099, doi. 10.1093/hmg/6.12.2099

By:

Mak, Victor;
Jarvi, Keith A.;
Zielenski, Julian;
Durie, Peter;
Tsui, Lap-Chee

Publication type:

Article

Structural and Functional Characterization of the Human FMR1 Promoter Reveals Similarities with the hnRNP-A2 Promoter Region.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2051, doi. 10.1093/hmg/6.12.2051

By:

Drouin, Régen;
Angers, Martin;
Dallaire, Nancy;
Rose, Timothy M.;
Khandjian, Edouard W.;
Rousseau, François

Publication type:

Article

The IPL Gene on Chromosome 11p15.5 is Imprinted in Humans and Mice and is Similar to TDAG51, Implicated in Fas Expression and Apoptosis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2021, doi. 10.1093/hmg/6.12.2021

By:

Qian, Naifeng;
Frank, Dale;
O'Keefe, Denise;
Dao, Diem;
Zhao, Long;
Yuan, Luwa;
Wang, Qing;
Keating, Mark;
Walsh, Colum;
Tycko, Benjamin

Publication type:

Article

Identification and Characterization of Human Genes Encoding Hprp3p and Hprp4p, Interacting Components of the Spliceosome.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 12, p. 2117, doi. 10.1093/hmg/6.12.2117

By:

Wang, Anan;
Forman-Kay, Julie;
Luo, Yu;
Luo, Ming;
Chow, Yu-Hua;
Plumb, Jonathan;
Friesen, James D.;
Tsui, Lap-Chee;
Heng, Henry H. Q.;
Woolford, John L.;
Hu, Jim

Publication type:

Article