Homozygotes carrying an autosomal dominant TIGR mutation do not
manifest glaucomapp319 - 321 Jean Morissette, Christian Clépet, Steve Moisan, Stéphane Dubois, Eric Winstall, Diana Vermeeren, Thai Nguyen, Jon Polansky, Gilles Côté, Jean-Louis Anctil, Marcel Amyot, Micheline Plante, Pierre Falardeau
& Vincent Raymond doi:10.1038/1203 Full text|PDF
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APOE genotype predicts when — not whether — one is
predisposed to develop Alzheimer diseasepp321 - 322 Marion R Meyer, JoAnn T Tschanz, Maria C Norton, Kathleen A Welsh-Bohmer, David C Steffens, Bonita W Wyse
& John C S Breitner doi:10.1038/1206 Full text|PDF
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Familial gastrointestinal stromal tumours with germline mutation of the
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& Yukihiko Kitamura doi:10.1038/1209 Full text|PDF
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Methylation analysis of the PWS/AS region does not support an enhancer-competition
modelpp324 - 325 Axel Schumacher, Karin Buiting, Michael Zeschnigk, Walter Doerfler
& Bernhard Horsthemke doi:10.1038/1211 Full text|PDF
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Reply to Schumacher et al.p325 Shirley Tilghman
& Chris Schoenherr doi:10.1038/1498 Full text|PDF
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Positional cloning of the gene for X-linked retinitis pigmentosa 2pp327 - 332 Uwe Schwahn, Steffen Lenzner, Juan Dong, Silke Feil, Bernd Hinzmann, Gerard van Duijnhoven, Renate Kirschner, Myriam Hemberger, Arthur A.B. Bergen, Thomas Rosenberg, Alfred J.L.G. Pinckers, Reinald Fundele, André Rosenthal, Frans P.M. Cremers, H.-Hilger Ropers
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Graded reduction of Pafah1b1 (Lis1) activity results in neuronal
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The mouse stargazer gene encodes a neuronal Ca2+-channel
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& Wayne N. Frankel doi:10.1038/1228 Abstract|Full text|PDF
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Pten is essential for embryonic development and tumour suppression
pp348 - 355 Antonio D. Cristofano, Barbara Pesce, Carlos Cordon-Cardo
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Alpha-2 macroglobulin is genetically associated with Alzheimer disease
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& Rudolph E. Tanzi doi:10.1038/1243 Abstract|Full text|PDF
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Febrile seizures and generalized epilepsy associated with a mutation
in the Na+-channel 1 subunit gene SCN1Bpp366 - 370 Robyn H. Wallace, Dao W. Wang, Rita Singh, Ingrid E. Scheffer, Alfred L. George Jr., Hilary A. Phillips, Kathrin Saar, Andre Reis, Eric W. Johnson, Grant R. Sutherland, Samuel F. Berkovic
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A retinoblastoma-binding protein that affects cell-cycle control and
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Replication focus-forming activity 1 and the Werner syndrome gene product
pp375 - 378 Hong Yan, Chin-Yi Chen, Ryuji Kobayashi
& John Newport doi:10.1038/1263 Abstract|Full text|PDF
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Depletion of epithelial stem-cell compartments in the small intestine
of mice lacking Tcf-4pp379 - 383 Vladimir Korinek, Nick Barker, Petra Moerer, Elly van Donselaar, Gerwin Huls, Peter J. Peters
& Hans Clevers doi:10.1038/1270 Abstract|Full text|PDF
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Functional analysis of human MLH1 mutations in Saccharomyces
cerevisiaepp384 - 389 Hideki Shimodaira, Nicole Filosi, Hiroyuki Shibata, Takao Suzuki, Paolo Radice, Ryunosuke Kanamaru, Stephen H. Friend, Richard D. Kolodner
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Mutations in a plasma membrane Ca2+-ATPase gene cause
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A mouse model for hereditary thyroid dysgenesis and cleft palatepp395 - 398 Mario De Felice, Catherine Ovitt, Elio Biffali, Alina Rodriguez-Mallon, Claudio Arra, Konstantinos Anastassiadis, Paolo Emidio Macchia, Marie-Genevieve Mattei, Angela Mariano, Hans Schöler, Vincenzo Macchia
& Roberto Di Lauro doi:10.1038/1289 Abstract|Full text|PDF
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Mutation of the gene encoding human TTF-2 associated with thyroid agenesis,
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Missense mutations in desmin associated with familial cardiac and skeletal
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A mouse model of Greig cephalapolysyndactyly syndrome: the extra-toes
J mutation contains an intragenic deletion of the Gli3
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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular
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Bleomycin hydrolase is associated with risk of sporadic Alzheimer's disease
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subunit
1 subunit gene SCN1B
