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Results : 26-50/138

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Authors: Spritz, Richard A. Giebel, Lutz B. Holmes, Stuart A.

Journal: American journal of human genetics

Citation: A. Spritz, Richard et al., Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism., American journal of human genetics , 50-I(2), 1992, pp. 261-269

Familial recurrence-pattern analysis of cleft lip with or without cleft palate.

Authors: Farrall, Martin Holder, Susan

Journal: American journal of human genetics

Citation: Farrall, Martin et Holder, Susan, Familial recurrence-pattern analysis of cleft lip with or without cleft palate., American journal of human genetics , 50-I(2), 1992, pp. 270-277

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

Authors: Ellison, KimberlyA. Fill, CarolynP. Terwilliger, Joseph DeGennaro, LouisJ. Martin-Gallardo, Antonia Anvret, Maria Percy, AlanK. Ott, Jurg Zoghbi, Huda

Journal: American journal of human genetics

Citation: Ellison, Kimberlya et al., Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis., American journal of human genetics , 50-I(2), 1992, pp. 278-287

No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.

Authors: Schinzel, AlbertA. Adelsberger, PatriciaA. Binkert, Franz Basaran, Seher Antonarakis, StylianosE.

Journal: American journal of human genetics

Citation: Schinzel, Alberta et al., No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements., American journal of human genetics , 50-I(2), 1992, pp. 288-293

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

Authors: Korenberg, J. R. Bradley, C. Disteche, C. M.

Journal: American journal of human genetics

Citation: R. Korenberg, J. et al., Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis., American journal of human genetics , 50-I(2), 1992, pp. 294-302

The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.

Authors: Salido, Eduardo C. Yen, Pauline H. Koprivnikar, Kathryn Yu, Loh-Chung Shapiro, Larry J.

Journal: American journal of human genetics

Citation: C. Salido, Eduardo et al., The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes., American journal of human genetics , 50-I(2), 1992, pp. 303-316

Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.

Authors: Ho, M. F. Monaco, A. P. Blonden, L. A. J. van Ommenvan, G. J. B. Affara, N. A. Ferguson-Smith, M. A. Lehrach, H.

Journal: American journal of human genetics

Citation: F. Ho, M. et al., Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21., American journal of human genetics , 50-I(2), 1992, pp. 317-330

Detection of DNA sequence polymorphisms in human genomic DNA by using denaturing gradient gel blots.

Authors: Gray, Mark R.

Journal: American journal of human genetics

Citation: R. Gray, Mark, Detection of DNA sequence polymorphisms in human genomic DNA by using denaturing gradient gel blots., American journal of human genetics , 50-I(2), 1992, pp. 331-346

A multiple-tubes approach for accurate genotyping of very small DNA samples by using PCR: statistical considerations.

Authors: Navidi, W. Arnheim, N. Waterman, M. S.

Journal: American journal of human genetics

Citation: W. Navidi, et al., A multiple-tubes approach for accurate genotyping of very small DNA samples by using PCR: statistical considerations., American journal of human genetics , 50-I(2), 1992, pp. 347-359

Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child.

Authors: Larsson, Nils-Goran Eiken, HansGeir Boman, Helge Holme, Elisabeth Oldfors, Anders Tulinius, Mar H.

Journal: American journal of human genetics

Citation: Larsson, Nils-goran et al., Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child., American journal of human genetics , 50-I(2), 1992, pp. 360-363

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Authors: Rötig, Agnès Bessis, Jean-Louis Romero, Norma Cormier, Valerie Saudubray, Jean-Marie Narcy, Philippe Lenoir, Gérard Rustin, Pierre Munnich, Arnold

Journal: American journal of human genetics

Citation: Rötig, Agnès et al., Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia., American journal of human genetics , 50-I(2), 1992, pp. 364-370

Amplification and characterization of the retinoblastoma gene VNTR by PCR.

Authors: Scharf, Stephen Bowcock, Anne M. McClure, Gregg Klitz, William Yandell, David W. Erlich, Henry A.

Journal: American journal of human genetics

Citation: Scharf, Stephen et al., Amplification and characterization of the retinoblastoma gene VNTR by PCR., American journal of human genetics , 50-I(2), 1992, pp. 371-381

Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region.

Authors: Weber, Bernhard Hedrick, Amy Andrew, Susan Riess, Olaf Collins, Colin Kowbel, David Hayden, Michael R.

Journal: American journal of human genetics

Citation: Weber, Bernhard et al., Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region., American journal of human genetics , 50-I(2), 1992, pp. 382-393

The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans.

Authors: Kay, AndreaC. Kuhl, Wanda Prchal, Josef Beutler, Ernest

Journal: American journal of human genetics

Citation: Kay, Andreac et al., The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans., American journal of human genetics , 50-I(2), 1992, pp. 394-398

Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1).

Authors: Fujimori, Minoru Wells, SamuelA. Nakamura, Yusuke

Journal: American journal of human genetics

Citation: Fujimori, Minoru et al., Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1)., American journal of human genetics , 50-I(2), 1992, pp. 399-403

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Authors: Casals, T. Vázquez, C. Lázaro, C. Girbau, E. Giménez, F. J. Estivill, X.

Journal: American journal of human genetics

Citation: T. Casals, et al., Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin., American journal of human genetics , 50-I(2), 1992, pp. 404-410

Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia.

Authors: Allsopp, Catherine E. M. Harding, Rosalind M. Taylor, Craig Bunce, Michael Kwiatkowski, Dominic Anstey, Nicholas Brewster, David McMichael, Andrew J. Greenwood, Brian M. Hill, Adrian V. S.

Journal: American journal of human genetics

Citation: M. Allsopp, Catherine E. et al., Interethnic genetic differentiation in Africa: HLA class I antigens in The Gambia., American journal of human genetics , 50-I(2), 1992, pp. 411-421

Molecular characterization of beta-thalassemia in the Sardinian population.

Authors: Rosatelli, M. C. A Dozy, A. Faà, V. Meloni, A. Sardu, R. Saba, L. Kan, Y.W. Cao, A.

Journal: American journal of human genetics

Citation: C. Rosatelli, M. et al., Molecular characterization of beta-thalassemia in the Sardinian population., American journal of human genetics , 50-I(2), 1992, pp. 422-426

A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

Authors: Landsberger, Daniel Meiner, Vardiella Reshef, Ayeleth Levy, Yishai van der Westhuyzen, Deneys R. Coetzee, Gerhard A. Leitersdorf, Eran

Journal: American journal of human genetics

Citation: Landsberger, Daniel et al., A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect., American journal of human genetics , 50-I(2), 1992, pp. 427-433

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

Authors: Solera, Jesùs Magallón, Manuel Martin-Villar, José Coloma, Antonio

Journal: American journal of human genetics

Citation: Solera, Jesùs et al., Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site., American journal of human genetics , 50-I(2), 1992, pp. 434-437

Huntington disease and the abuse of genetics

Authors: Harper, Peter S.

Journal: American journal of human genetics

Citation: S. Harper, Peter, Huntington disease and the abuse of genetics, American journal of human genetics , 50-I(3), 1992, pp. 460-464

Genetic discrimination and the law.

Authors: Natowicz, Marvin R. Alper, Jane K. Alper, Joseph S.

Journal: American journal of human genetics

Citation: R. Natowicz, Marvin et al., Genetic discrimination and the law., American journal of human genetics , 50-I(3), 1992, pp. 465-475

Discrimination as a consequence of genetic testing.

Authors: Billings, Paul R. Kohn, Mel A. de Cuevas, Margaret Beckwith, Jonathan Alper, Joseph S. Natowicz, Marvin R.

Journal: American journal of human genetics

Citation: R. Billings, Paul et al., Discrimination as a consequence of genetic testing., American journal of human genetics , 50-I(3), 1992, pp. 476-482

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Authors: Basler, Elizabeth Grompe, Markus Parenti, Giancarlo Yates, John Ballabio, Andrea

Journal: American journal of human genetics

Citation: Basler, Elizabeth et al., Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis., American journal of human genetics , 50-I(3), 1992, pp. 483-491

Assignment of the urokinase-type plasminogen activator receptor gene (PLAUR) to chromosome 19q13.1-q13.2.

Authors: Børglum, Anders D. Byskov, Anette Ragno, Pia Roldan, Ann L. Tripputi, Pasquale Cassani, Giovanni Danø, Keld Blasi, Francesco Bolund, Lars Kruse, Torben A.

Journal: American journal of human genetics

Citation: D. Børglum, Anders et al., Assignment of the urokinase-type plasminogen activator receptor gene (PLAUR) to chromosome 19q13.1-q13.2., American journal of human genetics , 50-I(3), 1992, pp. 492-497

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