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
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
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
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
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
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