Works matching IS 09646906 AND DT 1999 AND VI 8 AND IP 9

Results: 27

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1769, doi. 10.1093/hmg/8.9.1769

By:

Kalff-Suske, Martha;
Wild, Anja;
Topp, Juliane;
Wessling, Martina;
Jacobsen, Eva-Maria;
Bornholdt, Dorothea;
Engel, Hartmut;
Heuer, Heike;
Aalfs, Cora M.;
Ausems, Margreet G.E.M.;
Barone, Rita;
Herzog, Andreas;
Heutink, Peter;
Homfray, Tessa;
Gillessen-Kaesbach, Gabriele;
Konig, Rainer;
Kunze, Jurgen;
Meinecke, Peter;
Muller, Dietmar;
Rizzo, Renata

Publication type:

Article

The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1637, doi. 10.1093/hmg/8.9.1637

By:

Coleman, Joanna;
Baird, Duncan M.;
Royle, Nicola J.

Publication type:

Article

A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1691, doi. 10.1093/hmg/8.9.1691

By:

Williams, Andrew J.;
Murrell, Melanie;
Brammah, Susan;
Minchenko, Jim;
Christodoulou, John

Publication type:

Article

Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1673, doi. 10.1093/hmg/8.9.1673

By:

Toyama, Ryusuke;
Mukai, Satoru;
Itagaki, Atsushi;
Tamura, Shigehiko;
Shimozawa, Nobuyuki;
Suzuki, Yasuyuki;
Kondo, Naomi;
Wanders, Ronald J. A.;
Fujiki, Yukio

Publication type:

Article

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1665, doi. 10.1093/hmg/8.9.1665

By:

Buiakova, Olesia I.;
Xu, Jin;
Lutsenko, Svetlana;
Zeitlin, Scott;
Das, Kamna;
Das, Shonit;
Ross, Barbara M.;
Mekios, Constantinos;
Scheinberg, I. Herbert;
Gilliam, T. Conrad

Publication type:

Article

A putative Drosophila homolog of the Huntington's disease gene.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1807

By:

Li, Zhen;
Karlovich, Chris A.;
Fish, Matthew P.;
Scott, Matthew P.;
Myers, Richard M.

Publication type:

Article

Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1647, doi. 10.1093/hmg/8.9.1647

By:

Boutell, Jonathan M.;
Thomas, Philip;
Neal, James W.;
Weston, Victoria J.;
Duce, James;
Harper, Peter S.;
Jones, A. Lesley

Publication type:

Article

Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1683, doi. 10.1093/hmg/8.9.1683

By:

Odent, S.;
Attie-Bitach, T.;
Blayau, M.;
Mathieu, M.;
Auge, J.;
Delezoide, A. L.;
Le Gall, J. Y.;
Le Marec, B.;
Munnich, A.;
David, V.;
Vekemans, M.

Publication type:

Article

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor Alpha in acute promyelocytic-like leukaemia.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1741, doi. 10.1093/hmg/8.9.1741

By:

Arnould, Cecile;
Philippe, Christophe;
Bourdon, Violaine;
Gregoire, Marie Jose;
Berger, Roland;
Jonveaux, Philippe

Publication type:

Article

French Machado-Joseph disease patients do not exhibit gametic segregation distortion: a sperm typing analysis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1779, doi. 10.1093/hmg/8.9.1779

By:

Grewal, Raji P.;
Cancel, Geraldine;
Leeflang, Esther P.;
Durr, Alexandra;
McPeek, Mary Sara;
Draghinas, David;
Yao, Xiang;
Stevanin, Giovanni;
Alnot, Marie-Odile;
Brice, Alexis;
Arnheim, Norman

Publication type:

Article

Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1657, doi. 10.1093/hmg/8.9.1657

By:

Kaytor, Michael D.;
Duvick, Lisa A.;
Skinner, Pamela J.;
Koob, Michael D.;
Ranum, Laura P. W.;
Orr, Harry T.

Publication type:

Article

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1757, doi. 10.1093/hmg/8.9.1757

By:

Pilz, Daniela T.;
Kuc, Julie;
Matsumoto, Naomichi;
Bodurtha, Joann;
Bernadi, Bruno;
Tassinari, Carlo A.;
Dobyns, William B.;
Ledbetter, David H.

Publication type:

Article

Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1761, doi. 10.1093/hmg/8.9.1761

By:

Ikeda, Akihiro;
Zheng, Qing Yin;
Rosenstiel, Philip;
Maddatu, Terry;
Zuberi, Aamir R.;
Roopenian, Derry C.;
North, Michael A.;
Naggert, Jurgen K.;
Johnson, Kenneth R.;
Nishina, Patsy M.

Publication type:

Article

ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1631, doi. 10.1093/hmg/8.9.1631

By:

Jacobsen, Nick J. O.;
Lyons, Ita;
Hoogendoorn, Bastiaan;
Burge, Susan;
Kwok, Pui-Yan;
O'Donovan, Michael C.;
Craddock, Nick;
Owen, Michael J.

Publication type:

Article

Mapping recombination hotspots in human phosphoglucomutase (PGM1).

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1699, doi. 10.1093/hmg/8.9.1699

By:

Yip, Shea Ping;
Lovegrove, Jenny U.;
Rana, Naheed A.;
Hopkinson, David A.;
Whitehouse, David B.

Publication type:

Article

Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human p cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1751, doi. 10.1093/hmg/8.9.1751

By:

Vergani, L.;
Rossi, R.;
Brierley, C. H.;
Hanna, M.;
Holt, I. J.

Publication type:

Article

A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1729, doi. 10.1093/hmg/8.9.1729

By:

Williams, N. M.;
Rees, M. I.;
Holmans, P.;
Norton, N.;
Cardno, A.G.;
Jones, L.A.;
Murphy, K.C.;
Sanders, R.D.;
McCarthy, G.;
Gray, M.Y.;
Fenton, I.;
McGuffin, P.;
Owen, M.J.

Publication type:

Article

Sensitivity issues in DNA array-based expression measurements and performance of nylon microarrays for small samples.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1715, doi. 10.1093/hmg/8.9.1715

By:

Bertucci, Francois;
Bernard, Karine;
Loriod, Beatrice;
Chang, Yi-Chung;
Granjeaud, Samuel;
Birnbaum, Daniel;
Nguyen, Catherine;
Peck, Konan;
Jordan, Bertrand R.

Publication type:

Article

Doublecortin, a stabilizer of microtubules.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1599, doi. 10.1093/hmg/8.9.1599

By:

Horesh, David;
Sapir, Tamar;
Francis, Fiona;
Grayer Wolf, Sharon;
Caspi, Michal;
Elbaum, Michael;
Chelly, Jamel;
Reiner, Orly

Publication type:

Article

A conserved nuclear element with a role in mammalian gene regulation.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1723

By:

Donnell, Shaun R.;
Hawkins, Tim E.;
Moss, Stephen E.

Publication type:

Article

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1621, doi. 10.1093/hmg/8.9.1621

By:

Ruiz-Perez, Victor L.;
Carter, Simon A.;
Healy, Eugene;
Todd, Carole;
Rees, Jonathan L.;
Steijlen, Peter M.;
Carmichael, Andrew J.;
Lewis, Helen M.;
Hohl, D.;
Itin, Peter;
Vahlquist, Anders;
Gobello, T.;
Mazzanti, C.;
Reggazini, R.;
Nagy, Gyula;
Munro, Colin S.;
Strachan, Tom

Publication type:

Article

Spectrum of novel ATP2A2 mutations in patients with Darier's disease.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1611, doi. 10.1093/hmg/8.9.1611

By:

Sakuntabhai, Anavaj;
Burge, Susan;
Monk, Sarah;
Hovanian, Alain

Publication type:

Article

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1791, doi. 10.1093/hmg/8.9.1791

By:

Lalioti, Maria D.;
Scott, Hamish S.;
Antonarakis, Stylianos E.

Publication type:

Article

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in Beta-sarcoglycan-deficient mice.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1589, doi. 10.1093/hmg/8.9.1589

By:

Araishi, Kenji;
Sasaoka, Toshikuni;
Imamura, Michihiro;
Noguchi, Satoru;
Hama, Hiroshi;
Wakabayashi, Eriko;
Yoshida, Mikiharu;
Hori, Tetsuro;
Ozawa, Eijiro

Publication type:

Article

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1799, doi. 10.1093/hmg/8.9.1799

By:

Arngrimsson, Reynir;
Siguroardottir, Sigrun;
Frigge, Michael L.;
Bjarnadottir, Ragnheiour I.;
Jonsson, Thorlakur;
Stefansson, Hreinn;
Baldursdottir, Asdis;
Einarsdottir, Anna S.;
Palsson, Birgir;
Snorradottir, Steinunn;
Lachmeijer, A. M. A.;
Nicolae, Dan;
Kong, Augustine;
Bragason, Birkir Thor;
Gulcher, Jeffrey R.;
Geirsson, Reynir Tomas;
Stefansson, Kari

Publication type:

Article

Combined sib-TDT and TDT provide evidence for linkage of the interleukin-1 gene cluster to erosive rheumatoid arthritis.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1707, doi. 10.1093/hmg/8.9.1707

By:

Cox, Angela;
Camp, Nicola J.;
Cannings, Chris;
di Giovine, Francesco S.;
Dale, Mark;
Worthington, Jane;
John, Sally;
Ollier, William E. R.;
Silman, Alan J.;
Duff, Gordon W.

Publication type:

Article

A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1785, doi. 10.1093/hmg/8.9.1785

By:

Bondurand, Nadege;
Kuhlbrodt, Kirsten;
Pingault, Veronique;
Enderich, Janna;
Sajus, Marc;
Tommerup, Niels;
Warburg, Mette;
Hennekam, Raoul C. M.;
Read, Andrew P.;
Wegner, Michael;
Goossens, Michel

Publication type:

Article