HUMAN GENETICS

 Human Genetics: Volume 110, Number 4, April 2002
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	Original Investigation
LA eng
AU Jeffrey E.Ming, Michelle E.Kaupas, Erich Roessler,
   Han G.Brunner, Mahin Golabi, Mustafa Tekin, Robert F.Stratton,
   Eva Sujansky, Sherri J.Bale, Maximilian Muenke
TE Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are
   associated with holoprosencephaly
PP 297-301
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LA eng
AU Takeya Okada, Yoichi Gondo, Jun Goto, Ichiro Kanazawa,
   Shinji Hadano, Joh-E Ikeda
TE Unstable transmission of the RS447 human megasatellite tandem
   repetitive sequence that contains the USP17 deubiquitinating
   enzyme gene
PP 302-313
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LA eng
AU Cristina Gervasini, Angela Bentivegna, Marco Venturin,
   Lucia Corrado, Lidia Larizza, Paola Riva
TE Tandem duplication of the NF1 gene detected by high-resolution
   FISH in the 17q11.2 region
PP 314-321
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LA eng
AU Jay W.Ellison, Mustafa Tekin, Karen Salvasen Sikes,
   Jerry Yankowitz, Larry Shapiro, Gudrun A.Rappold, E.Kirk Neely
TE Molecular characterization of a ring X chromosome in a male with
   short stature
PP 322-326
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LA eng
AU J.Haeberle, S.Pauli, M.Linnebank, W.J.Kleijer, H.D.Bakker,
   R.J.A.Wanders, E.Harms, H.G.Koch
TE Structure of the human argininosuccinate synthetase gene and an
   improved system for molecular diagnostics in patients with
   classical and mild citrullinemia
PP 327-333
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LA eng
AU Mauricio Arcos-Burgos, Elba Parodi, Marta Salgar, Elina Bedoya,
   Juan Jose Builes, Diego Jaramillo, Gabriel Ceballos,
   Alberto Uribe, Natalia Rivera, Dora Rivera, Idalyd Fonseca,
   Mauricio Camargo, Luis Guillermo Palacio
TE Vitiligo: complex segregation and linkage disequilibrium
   analyses with respect to microsatellite loci spanning the HLA
PP 334-342
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LA eng
AU Corstiaan C.Breugem, Marielle Alders,
   Georgette B.Salieb-Beugelaar, Marcel M.A.M.Mannens,
   Chantal M.Van Der Horst, Raoul C.M.Hennekam
TE A locus for hereditary capillary malformations mapped on
   chromosome 5q
PP 343-347
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LA eng
AU Mirna Mustapha, Eliane Chouery, Delphine Torchard-Pagnez,
   Sylvie Nouaille, Awni Khrais, Fouad N.Sayegh, Andre Megarbane,
   Jacques Loiselet, Mark Lathrop, Christine Petit, Dominique Weil
TE A novel locus for Usher syndrome type I, USH1G, maps to
   chromosome 17q24-25
PP 348-350
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LA eng
AU Stefano Regis, Fabio Corsolini, Marina Stroppiano,
   Roberto Cusano, Mirella Filocamo
TE Contribution of arylsulfatase A mutations located on the same
   allele to enzyme activity reduction and metachromatic
   leukodystrophy severity
PP 351-355
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LA eng
AU Xiaoyan Wang, Steven T.DeKosky, Erin Luedecking-Zimmer,
   Mary Ganguli, M.Ilyas Kamboh
TE Genetic variation in agr_{1}-antichymotrypsin and its
   association with Alzheimer's disease
PP 356-365
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LA eng
AU Laurence Faivre, Andre Megarbane, Abdulrahman Alswaid,
   Louise Zylberberg, Noura Aldohayan, Ana Belinda Campos-Xavier,
   Delphine Bacq, Laurence Legeai-Mallet, Jacky Bonaventure,
   Arnold Munnich, Valerie Cormier-Daire
TE Homozygosity mapping of a Weill-Marchesani syndrome locus to
   chromosome 19p13.3-p13.2
PP 366-370
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LA eng
AU Parimal Das, David W.Stockton, Christopher Bauer,
   Lisa G.Shaffer, Rena N.D'Souza, J.Timothy Wright, Pragna I.Patel
TE Haploinsufficiency of PAX9 is associated with autosomal dominant
   hypodontia
PP 371-376
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LA eng
AU David Morgan, Judith Goodship, Jeffrey J.Essner, Kyle J.Vogan,
   Lee Turnpenny, H.Joseph Yost, Clifford J.Tabin, Tom Strachan
TE The left-right determinant inversin has highly conserved ankyrin
   repeat and IQ domains and interacts with calmodulin
PP 377-384
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	Book Review
LA eng
AU R.Mark Gardiner
TE Genetics and the electroencephalogram. F.Vogel, Springer-Verlag,
   Berlin, ISBN 3-540-65573-5, 240 pages, 149.00 DM, $99.00
PP 385
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LA eng
AU Claude Dorche
TE Antenatal and Neonatal Screening [Second Edition]. Nicholas
   Wald, Ian Leck (Editors), Oxford University Press, ISBN
   0-19-262826-7, Hardcover, 591 pages, pound 75.00
PP 386
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LA eng
AU Ian Ellis
TE Advances in Genetics, volume 14. Tay-Sachs Disease. Robert
   J.Desnick, Michael M.Kaback (Editors), Academic Press,
   ISBN 0-12-017644-0, Hardcover, 363 pages, pound 79.95
PP 387
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