Human Molecular Genetics - Table of Contents
Volume 07, January - December 1998: Issue 07
Location at: http://www.oup.co.uk/hmg/Volume_07/Issue_07/
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
Vincent des Portes, Fiona Francis, Jean-Marc Pinard, Isabelle Desguerre, Marie-Laure Moutard, Irina Snoeck, Linda C. Meiners, Francois Capron, Raffaella Cusmai, Stefano Ricci, Jacques Motte, Bernard Echenne, Gerard Ponsot, Olivier Dulac, Jamel Chelly, Cherif Beldjord
Pages 1063-1070
Document ID = hmg_07_07_ddb141_gml
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WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
Ingrid Stec, Tracy J. Wright, Gert-Jan B. van Ommen, Piet A. J. de Boer, Arie van Haeringen, Antoon F. M. Moorman, Michael R. Altherr, Johan T. den Dunnen
Pages 1071-1082
Document ID = hmg_07_07_ddb142_gml
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Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides
Matthew G. Dunckley, Muthiah Manoharan, Pierre Villiet, Ian C. Eperon, George Dickson
Pages 1083-1091
Document ID = hmg_07_07_ddb139_gml
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Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
Douglas Vollrath, Virna L. Jaramillo-Babb, Mark V. Clough, Iain McIntosh, Kathleen M. Scott, Paul R. Lichter, Julia E. Richards
Pages 1091-1098
Document ID = hmg_07_07_ddb147_gml
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Two frequent missense mutations in Pendred syndrome
Peter Van Hauwe, Lorraine A. Everett, Paul Coucke, Daryl A. Scott, Michelle L. Kraft, Carrie Ris-Stalpers, Cuny Bolder, Barto Otten, Jan J.M. de Vijlder, Nicole L. Dietrich, Arabandi Ramesh, Srikumari C. R. Srisailapathy, Agnete Parving, Cor W. R. J. Cremers, Patrick J. Willems, Richard J. H. Smith, Eric D. Green, Guy Van Camp
Pages 1099-1104
Document ID = hmg_07_07_ddb143_gml
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Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
Beth Coyle, William Reardon, Jo-Anne Herbrick, Lap-Chee Tsui, Eleanor Gausden, Jeffrey Lee, Rebecca Coffey, Annette Grueters, Ashley Grossman4, Peter D. Phelps, Linda Luxon, Pat Kendall-Taylor, Stephen W. Scherer, Richard C. Trembath
Pages 1105-1112
Document ID = hmg_07_07_ddb149_gml
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Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
Stephen C. Kulak, Kathy Kozlowski, Elena V. Semina, William G. Pearce, Michael A. Walter
Pages 1113-1117
Document ID = hmg_07_07_ddb133_gml
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Genetic heterogeneity in familial hyperinsulinism
Ann Nestorowicz, Benjamin Glaser, Beth A. Wilson, Show-Ling Shyng, Colin G. Nichols, Charles A. Stanley, Paul S. Thornton4,, M. Alan Permutt
Pages 1119-1128
Document ID = hmg_07_07_ddb148_gml
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Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy
Kunihiro Yoshida, Akinori Nakamura, Masahide Yazaki, Shu-ichi Ikeda, Shin'ichi Takeda
Pages 1129-1132
Document ID = hmg_07_07_ddb136_gml
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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
Christine Klein, Mitchell F. Brin, Deborah de Leon, Svetlana A. Limborska, Irina A. Ivanova-Smolenskaya, Susan B. Bressman, Andrzej Friedman, Elena D. Markova, Neil J. Risch, Xandra O. Breakefield, Laurie J. Ozelius
Pages 1133-1136
Document ID = hmg_07_07_ddb135_gml
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Reconstitution of wild-type or mutant telomerase activity in telomerase-negative immortal human cells
Jianping Wen, Yu-Sheng Cong, Silvia Bacchetti
Pages 1137-1141
Document ID = hmg_07_07_ddb134_gml
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A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
Frances J. D. Smith, Marcel F. Jonkman, Harry van Goor, Carrie M. Coleman, Seana P. Covello, Jouni Uitto, W. H. Irwin McLean
Pages 1143-1148
Document ID = hmg_07_07_ddb138_gml
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Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5
Martina Paulsen, Karen R. Davies, Lucy M. Bowden, Angela J. Villar, Olivia Franck, Martina Fuermann, Wendy L. Dean, Tom F. Moore, Nanda Rodrigues, Kay E. Davies, Ren-J. Hu, Andrew P. Feinberg, Eamonn R. Maher, Wolf Reik, Jorn Walter
Pages 1149-1159
Document ID = hmg_07_07_ddb146_gml
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Human metalloprotease-disintegrin Kuzbanian regulates sympathoadrenal cell fate in development and neoplasia
Reza Yavari, Colette Adida, Patricia Bray-Ward, Michael Brines, Tian Xu
Pages 1161-1167
Document ID = hmg_07_07_ddb137_gml
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NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma
Terry Roberts, Olga Chernova, John K. Cowell
Pages 1169-1178
Document ID = hmg_07_07_ddb145_gml
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Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy
Rosemary E. Kelsell, Kevin Gregory-Evans, Annette M. Payne, Isabelle Perrault, Josseline Kaplan, Ruey-Bing Yang, David L. Garbers, Alan C. Bird, Anthony T. Moore, David M. Hunt
Pages 1179-1184
Document ID = hmg_07_07_ddb140_gml
------------------------------
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)
The Retinoschisis Consortium
Pages 1185-1192
Document ID = hmg_07_07_ddb144_gml
------------------------------
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