Haemochromatosis and HLA−Hpp249 - 251 Elizabeth C. Jazwinska, Lara M. Cullen, Frances Busfield, Wendy R. Pyper, Sonja I. Webb, Lawrie W. Powell, C. Philip Morris
& Terence P. Walsh doi:10.1038/ng1196-249 References|PDF
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Haemochromatosis and HLA−Hpp251 - 252 Anne Marie Jouanolle, Gwenola Gandon, Pascal Jézéquel, Martine Blayau, Marie Laure Campion, Jacqueline Yaouanq, Jean Mosser, Patricia Fergelot, Bruno Chauvel, Pascale Bouric, Gwenaelle Carn, Nancy Andrieux, Isabelle Gicquel, Jean-Yves Le Gall
& Véronique David doi:10.1038/ng1196-251 References|PDF
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A polymorphic stop codon in BRCA2pp253 - 254 Sylvie Mazoyer, Alison M. Dunning, Olga Serova, Joanna Dearden, Nadine Puget, Catherine S. Healey, Simon A. Gayther, Jonathan Mangion, Michael R. Stratton, Henry T. Lynch, David E. Goldgar, Bruce A. J. Ponder
& Gilbert M. Lenoir doi:10.1038/ng1196-253 References|PDF
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Microsatellite instability in the insulin−like growth factor II receptor gene in gastrointestinal tumourspp255 - 257 Rhonda F. Souza, Rebecca Appel, Jing Yin, Suna Wang, Kara N. Smolinski, John M. Abraham, Tong-Tong Zou, Ying-Qiang Shi, Junyi Lei, John Cottrell, Karina Cymes, Kelli Biden, Lisa Simms, Barbara Leggett, Patrick M. Lynch, Marsha Frazier, Steven M. Powell, Noam Harpas, Hirohasi Sugimura, Joanne Young
& Stephen J. Meltzer doi:10.1038/ng1196-255 References|PDF
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Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal bloodpp264 - 268 Mei-Chi Cheung, James D. Goldberg
& Yuet Wai Kan doi:10.1038/ng1196-264 Abstract + references|PDF
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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2pp269 - 276 Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk, Suzana Gispert, Xiao-Ning Chen, Iscia Lopes-Cendes, Susan Pearlman, Sidney Starkman, Guillermo Orozco-Diaz, Astrid Lunkes, Pieter DeJong, Guy A. Rouleau, Georg Auburger, Julie R. Korenberg, Carla Figueroa
& Soodabeh Sahba doi:10.1038/ng1196-269 Abstract + references|PDF
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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECTpp277 - 284 K. Sanpei, H. Takano, S. Igarashi, T. Sato, M. Oyake, H. Sasaki, A. Wakisaka, K. Tashiro, Y. Ishida, T. Ikeuchi, R. Koide, M. Saito, A. Sato, T. Tanaka, S. Hanyu, Y. Takiyama, M. Nishizawa, N. Shimizu, Y. Nomura, M. Segawa, K. Iwabuchi, I. Eguchi, H. Tanaka, H. Takahashi
& S. Tsuji doi:10.1038/ng1196-277 Abstract + references|PDF
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatspp285 - 291 Georges Imbert, Frédéric Saudou, Gaël Yvert, Didier Devys, Yvon Trottier, Jean-Marie Garnier, Chantal Weber, Jean-Louis Mandel, Gëraldine Cancel, Nacer Abbas, Alexandra Dürr, Olivier Didierjean, Giovanni Stevanin, Yves Agid
& Alexis Brice doi:10.1038/ng1196-285 Abstract + references|PDF
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The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and prunedpp292 - 299 Richa Saxena, Laura G. Brown, Trevor Hawkins, Raaji K. Alagappan, Helen Skaletsky, Mary Pat Reeve, Renee Reijo, Steve Rozen, Mary Beth Dinulos, Christine M. Disteche
& David C. Page doi:10.1038/ng1196-292 Abstract + references|PDF
(1,200K)
Positional cloning of a gene for Hermansky−Pudlak syndrome, a disorder of cytoplasmic organellespp300 - 306 Jangsuk Oh, Tu Bailin, Kazuyoshi Fukai, Guo Hong Feng, Lingling Ho, Jen-i Mao, Edgar Frenk, Naoaki Tamura
& Richard A. Spritz doi:10.1038/ng1196-300 Abstract + references|PDF
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Identification and mutation analysis of the complete gene for Chediak−Higashi syndromepp307 - 311 Deborah L. Nagle, Mohammad A. Karim, Elizabeth A. Woolf, Lisa Holmgren, Peer Bork, Donald J. Misumi, Sonja H. McGrail, Barry J. Dussault Jr., Charles M. Perou, Raymond E. Boissy, Geoffrey M. Duyk, Richard A. Spritz
& Karen J. Moore doi:10.1038/ng1196-307 Abstract + references|PDF
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Multicolour spectral karyotyping of mouse chromosomespp312 - 315 Marek Liyanage, Allen Coleman, Stan du Manoir, Tim Veldman, Stephen McCormack, Robert B. Dickson, Carrolee Barlow, Anthony Wynshaw-Boris, Siegfried Janz, Johannes Wienberg, Malcolm A. Ferguson-Smith, Evelin Schröck
& Thomas Ried doi:10.1038/ng1196-312 Abstract + references|PDF
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Mutations of the Down−regulated in adenoma (DRA) gene cause congenital chloride diarrhoeapp316 - 319 Pia Höglund, Siru Haila, Jerzy Socha, Leszek Tomaszewski, Ulpu Saarialho-Kere, Marja-Liisa Karjalainen-Lindsberg, Kristiina Airola, Christer Holmberg, Albert de la Chapelle
& Juha Kere doi:10.1038/ng1196-316 Abstract + references|PDF
(658K)
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAApp320 - 323 Jerome R. Lo Ten Foe, Martin A. Rooimans, Lucine Bosnoyan-Collins, Noa Alon, Mario Wijker, Linda Parker, Jeff Lightfoot, Madeleine Carreau, David F. Callen, Anna Savoia, Ngan C. Cheng, Carola G.M. van Berkel, Mark H.P. Strunk, Johan J.P. Gille, Gerard Pals, Frank A.E. Kruyt, Jan C. Pronk, Fré Arwert, Manuel Buchwald
& Hans Joenje doi:10.1038/ng1196-320 Abstract + references|PDF
(576K)
Positional cloning of the Fanconi anaemia group A genepp324 - 328 Sinoula Apostolou, Scott A. Whitmore, Joanna Crawford, Gregory Lennon, Grant R. Sutherland, David F. Callen, Leonarda lanzano, Maria Savino, Maria D'Apolito, Angelo Notarangeio, Elena Memeo, Maria Rosaria Piemontese, Leopoldo Zelante, Anna Savoia, Rachel A. Gibson, Alex J. Tipping, Neil V. Morgan, Sheila Hassock, Stander Jansen, Thomy J. de Ravel, Carola Van Berkell, Jan C. Pronk, Douglas F. Easton, Christopher G. Mathew, Orna Levran, Peter C. Verlander, Sat Dev Batish, Tamar Erlich, Arleen D. Auerbach, Anne-Marie Cleton-Jansen, Elna W. Moerland, Cees J. Cornelisse, Norman A. Doggett, Larry L. Deaven
& Robert K. Moyzis doi:10.1038/ng1196-324 Abstract + references|PDF
(732K)
An autosomal screen for genes that predispose to celiac disease in the western counties of Irelandpp329 - 333 Fei Zhong, Candace C. McCombs, Jane M. Olson, Robert C. Elston, Fiona M. Stevens, Ciaran F. McCarthy
& Joseph P. Michalski doi:10.1038/ng1196-329 Abstract + references|PDF
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The effect of the human serum paraoxonase polymorphism is reversed with diazoxon, soman and sarinpp334 - 336 Holly G. Davies, Rebecca J. Richter, Matthew Keifer, Clarence A. Broomfield, Jason Sowalla
& Clement E. Furlong doi:10.1038/ng1196-334 Abstract + references|PDF
(270K)
Mutations in the testis/liver isoform of the phosphorylase kinase subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humanspp337 - 340 Andrea J. Maichele, Barbara Burwinkel, Irène Maire, Oddmund Søvik
& Manfred W. Kilimann doi:10.1038/ng1196-337 Abstract + references|PDF
(512K)
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientpp341 - 344 Misha Angrist, Stacey Bolk, Marc Halushka, Paul A. Lapchak
& Aravinda Chakravarti doi:10.1038/ng1196-341 Abstract + references|PDF
(488K)
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseasepp345 - 347 Rémi Salomon, Tania Attié, Anna Pelet, Christelle Bidaud, Charis Eng, Jeanne Amiel, Sabine Sarnacki, Olivier Goulet, Claude Ricour, Claire Nihoul-Fékété, Arnold Munnich
& Stanislas Lyonnet doi:10.1038/ng1196-345 Abstract + references|PDF
(336K)
Mice lacking both subunits of lysosomal −hexosaminidase display gangliosidosis and mucopolysaccharidosispp348 - 352 Kazunori Sango, Michael P. McDonald, Jacqueline N. Crawley, Michelle L. Mack, Cynthia J. Tifft, Elisa Skop, Christopher M. Starr, Alexander Hoffmann, Konrad Sandhoff, Kinuko Suzuki
& Richard L. Proia doi:10.1038/ng1196-348 Abstract + references|PDF
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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephalypp353 - 356 E. Belloni, M. Muenke, E. Roessler, G. Traverse, J. Siegel-Bartelt, A. Frumkin, H.F. Mitchell, H. Donis-Keller, C. Helms, A.V. Hing, H.H.Q. Heng, B. Koop, D. Martindale, J.M. Rommens, L.-C. Tsui
& S.W. Scherer doi:10.1038/ng1196-353 Abstract + references|PDF
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Mutations in the human Sonic Hedgehog gene cause holoprosencephalypp357 - 360 Erich Roessler, Elena Belloni, Karin Gaudenz, Philippe Jay, Philippe Berta, Stephen W. Scherer, Lap-Chee Tsui
& Maximilian Muenke doi:10.1038/ng1196-357 Abstract + references|PDF
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Mutations in the glutathione synthetase gene cause 5−oxoprolinuriapp361 - 365 Zheng-Zheng Shi, Geetha M. Habib, William J. Rhead, William A. Gahl, Xiangwei He, Shelley Sazer
& Michael W. Lieberman doi:10.1038/ng1196-361 Abstract + references|PDF
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subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans
−hexosaminidase display gangliosidosis and mucopolysaccharidosis
