Works matching IS 09646906 AND DT 1997 AND VI 6 AND IP 1

Results: 20

The IL-9 Receptor Gene, Located in the Xq/Yq Pseudoautosomal Region, Has an Autosomal Origin, Escapes X Inactivation and Is Expressed from the Y.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 1, doi. 10.1093/hmg/6.1.1

By:

Vermeesch, Joris Robert;
Petit, Paul;
Kermouni, Abdenaïm;
Renauld, Jean-Christophe;
Van Den Berghe, Herman;
Marynen, Peter

Publication type:

Article

Comparison of the Human and Mouse Genes Encoding the Telomeric Protein, TRF1: Chromosomal Localization, Expression and Conserved Protein Domains.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 69, doi. 10.1093/hmg/6.1.69

By:

Broccoli, Dominique;
Chong, Laura;
Oelmann, Stefan;
Fernald, Anthony A.;
Marziliano, Nicola;
van Steensel, Bas;
Kipling, David;
Le Beau, Michelle M.;
de Lange, Titia

Publication type:

Article

Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 123, doi. 10.1093/hmg/6.1.123

By:

Gladwin, Amanda;
Donnai, Dian;
Metcalfe, Kay;
Schrander-Stumpel, Connie;
Brueton, Louise;
Verloes, Alain;
Aylsworth, Arthur;
Toriello, Helga;
Winter, Robin;
Dixon, Michael

Publication type:

Article

Translation Initiation Factor eIF-4gamma is Encoded by an Amplified Gene and Induces an Immune Response in Squamous Cell Lung Carcinoma.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 33, doi. 10.1093/hmg/6.1.33

By:

Brass, Nicole;
Heckel, Dirk;
Sahin, Ugor;
Pfreundschuh, Michael;
Sybrecht, Gerhard W.;
Meese, Eckart

Publication type:

Article

Trinucleotide Repeats in the Human Genome: Size Distributions for All Possible Triplets and Detection of Expanded Disease Alleles in a Group of Huntington Disease Individuals by the Repeat Expansion Detection Method.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 77, doi. 10.1093/hmg/6.1.77

By:

Hofferbert, Sigrun;
Schanen, N. Carolyn;
Chehab, Farid;
Francke, Uta

Publication type:

Article

Myosin VIIA Gene: Heterogeneity of the Mutations Responsible for Usher Syndrome Type IB.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 111, doi. 10.1093/hmg/6.1.111

By:

Lévy, Gallia;
Levi-Acobas, Fabienne;
Blanchard, Stéphane;
Gerber, Sylvie;
Larget-Piet, Dominique;
Chenal, Viviane;
Liu, Xue-Zhong;
Newton, Valerie;
Steel, Karen P.;
Brown, Steve D. M.;
Munnich, Arnold;
Kaplan, Josseline;
Petit, Christine;
Weil, Dominique

Publication type:

Article

Identification of a Complex Congenital Heart Defect Susceptibility Locus by Using DNA Pooling and Shared Segment Analysis.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 117, doi. 10.1093/hmg/6.1.117

By:

Sheffield, Val C.;
Pierpont, Mary Ella;
Nishimura, Darryl;
Beck, John S.;
Burns, Trudy L.;
Berg, Mary Anne;
Stone, Edwin M.;
Patil, Shivanand R.;
Lauer, Ronald M.

Publication type:

Article

A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 27, doi. 10.1093/hmg/6.1.27

By:

Chaïb, Hassan;
Kaplan, Josseline;
Gerber, Sylvie;
Vincent, Christophe;
Ayadi, Hammadi;
Slim, Rima;
Munnich, Arnold;
Weissenbach, Jean;
Petit, Christine

Publication type:

Article

Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 91, doi. 10.1093/hmg/6.1.91

By:

Meyer, Jobst;
Südbeck, Peter;
Held, Marika;
Wagner, Thomas;
Schmitz, M. Lienhard;
Dagna Bricarelli, Franca;
Eggermont, Ephrem;
Friedrich, Ursula;
Haas, Oskar A.;
Kobelt, Albrecht;
Leroy, Jules G.;
Van Maldergem, Lionel;
Michel, Erik;
Mitulla, Beate;
Pfeiffer, Rudolf A.;
Schinzel, Albert;
Schmidt, Heinrich;
Scherer, Gerd

Publication type:

Article

A Locus for Autosomal Dominant Posterior Polar Cataract on Chromosome 1p.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 47, doi. 10.1093/hmg/6.1.47

By:

Ionides, Alexander C. W.;
Berry, Vanita;
Mackay, Donna S.;
Moore, Anthony T.;
Bhattacharya, Shomi S.;
Shiels, Alan

Publication type:

Article

Emergence and Scattering of Multiple Neurofibromatosis (NF1)-Related Sequences During Hominoid Evolution Suggest a Process of Pericentromeric Interchromosomal Transposition.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 9, doi. 10.1093/hmg/6.1.9

By:

Régnier, Vinciane;
Meddeb, Mounira;
Lecointre, Guillaume;
Richard, Florence;
Duverger, Annette;
Van Cong, Nguyen;
Dutrillaux, Bernard;
Bernheim, Alain;
Danglot, Gisèle

Publication type:

Article

Cancer Risk Associated with Germline DNA Mismatch Repair Gene Mutations.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 105, doi. 10.1093/hmg/6.1.105

By:

Dunlop, Malcolm G.;
Farrington, Susan M.;
Carothers, Andrew D.;
Wyllie, Andrew H.;
Sharp, Linda;
Burn, John;
Liu, Bo;
Kinzler, Kenneth W.;
Vogelstein, Bert

Publication type:

Article

The BRC Repeats are Conserved in Mammalian BRCA2 Proteins.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 53, doi. 10.1093/hmg/6.1.53

By:

Bignell, Graham;
Micklem, Gos;
Stratton, Michael R.;
Ashworth, Alan;
Wooster, Richard

Publication type:

Article

Somatic Mutation Processes at a Muman Minisatellite.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 129, doi. 10.1093/hmg/6.1.129

By:

Jeffreys, Alec J.;
Neumann, Rita

Publication type:

Article

Increased Proportion of Exon 9 Alternatively Spliced CFTR Transcripts in vas Deferens Compared with Nasal Epithelial Cells.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 85, doi. 10.1093/hmg/6.1.85

By:

Teng, Hui;
Jorissen, Mark;
Van Poppe, Hein;
Legius, Eric;
Cassiman, Jean-Jacques;
Cuppens, Harry

Publication type:

Article

Mutations in the Gene Encoding the Inwardly-Rectifying Renal Potassium Channel, ROMK, Cause the Antenatal Variant of Bartter Syndrome: Evidence for Genetic Heterogeneity.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 17, doi. 10.1093/hmg/6.1.17

By:

Károlyi, Lothar;
Konrad, Martin;
Köckerling, Arnold;
Ziegler, Andreas;
Zimmermann, Dorthe K.;
Roth, Bernd;
Wieg, Christian;
Grzeschik, Karl-Heinz;
Koch, Manuela C.;
Seyberth, Hannsjörg W.;
Vargas, Rosa;
Forestier, Lionel;
Jean, Genevieve;
Deschaux, Michele;
Rizzoni, Gian Franco;
Niaudet, Patrick;
Antignac, Corinne;
Feldmann, Delphine;
Lorridon, Frederique;
Cougoureux, Emmanuel

Publication type:

Article

Functional Human CFTR Produced by Stable Chinese Hamster Ovary Cell Lines Derived Using Yeast Artificial Chromosomes.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 59, doi. 10.1093/hmg/6.1.59

By:

Mogayzel, Peter J.;
Henning, Karla A.;
Bittner, Michael L.;
Novotny, Elizabeth A.;
Schwiebert, Erik M.;
Guggino, William B.;
Jiang, Yuan;
Rosenfeld, Melissa A.

Publication type:

Article

Lack of Founding Amerindian Mitochondrial DNA Lineages in Extinct Aborigines from Tierra del Fuego-Patagonia.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 41, doi. 10.1093/hmg/6.1.41

By:

Lalueza, Carles;
Pérez-Pérez, Alejandro;
Prats, Eva;
Cornudella, Lluís;
Turbón, Daniel

Publication type:

Article

Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 137, doi. 10.1093/hmg/6.1.137

By:

Oldridge, Michael;
Lunt, Peter W.;
Zackai, Elaine H.;
McDonald-McGinn, Donna M.;
Muenke, Maximilian;
Moloney, Dominique M.;
Twigg, Stephen R. F.;
Heath, John K.;
Howard, Timothy D.;
Hoganson, George;
Gagnon, Deborah M.;
Jabs, Ethylin Wang;
Wilkie, Andrew O. M.

Publication type:

Article

Quantification, by Solid-Phase Minisequencing, of the Telomeric and Centromeric Copies of the Survival Motor Neuron Gene in Families with Spinal Muscular Atrophy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 1, p. 99, doi. 10.1093/hmg/6.1.99

By:

Schwartz, Marianne;
Sørensen, Nicolina;
Hansen, Flemming Juul;
Hertz, Jens Michael;
Nørby, Søren;
Tranebjærg, Lisbeth;
Skovby, Flemming

Publication type:

Article