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Results : 26-50/268

A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

Authors: Mimori, Akio Hidaka, Yuji Wu, Veda C. Tarlé, Susan A. Kamatani, Naoyuki Kelley, William N. Pallela, Thomas D.

Journal: American journal of human genetics

Citation: Mimori, Akio et al., A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects., American journal of human genetics , 48-I(1), 1991, pp. 103-107

Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.

Authors: Poduslo, Shirley E. Dean, Michael Kolch, Ulricke O'Brien, Stephen J.

Journal: American journal of human genetics

Citation: E. Poduslo, Shirley et al., Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis., American journal of human genetics , 49-I(1), 1991, pp. 106-111

Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)

Authors: Rousseau, F. Vincent, A. Rivella, S. Heitz, D. Triboli, C. Maestrini, E. Warren, S. T. Suthers, G. K. Goodfellow, P. Mandel, J. L. Toniolo, D. Oberle, I.

Journal: American journal of human genetics

Citation: F. Rousseau, et al., Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA), American journal of human genetics , 48-I(1), 1991, pp. 108-116

Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes.

Authors: Kuo, Wen-Lin Tenjin, Hisako Segraves, Richard Pinkel, Dan Golbus, Mitchell S. Gray, Joe

Journal: American journal of human genetics

Citation: Kuo, Wen-lin et al., Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes., American journal of human genetics , 49-I(1), 1991, pp. 112-119

Fitting mixture distributions to phenylthiocarbamide (PTC) sensitivity.

Authors: Jones, P. N. McLachlan, G. J.

Journal: American journal of human genetics

Citation: N. Jones, P. et J. Mclachlan, G., Fitting mixture distributions to phenylthiocarbamide (PTC) sensitivity., American journal of human genetics , 48-I(1), 1991, pp. 117-120

Twinning and mitotic crossing-over: some possibilities and their implications.

Authors: Côté, Gilbert B. Gyftodimou, Jolanda

Journal: American journal of human genetics

Citation: B. Côté, Gilbert et Gyftodimou, Jolanda, Twinning and mitotic crossing-over: some possibilities and their implications., American journal of human genetics , 49-I(1), 1991, pp. 120-130

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred

Authors: Kwiatkowski, David J. Torbjoern, Torbjoern G. Nygaard, Deborah E. Schuback, Scott Perman, JoelM. Trugman, Susan B. Bressman, Robert E. Burke, Mitchell F. Brin, Laurie Ozelius, Xandra O. Breakefield, Stanley Fahn, Patricia L. Kramer,

Journal: American journal of human genetics

Citation: J. Kwiatkowski, David et al., Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: Exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred, American journal of human genetics , 48-I(1), 1991, pp. 121-128

mtDNA polymorphism in two communities of Jews.

Authors: Tikochinski, Y. Ritte, U. Gross, S. R. Prager, E. M. Wilson, A. C.

Journal: American journal of human genetics

Citation: Y. Tikochinski, et al., mtDNA polymorphism in two communities of Jews., American journal of human genetics , 48-I(1), 1991, pp. 129-136

Genetic affinities of Jewish populations.

Authors: Livshits, Gregory Sokal, Robert R. Kobyliansky, Eugene

Journal: American journal of human genetics

Citation: Livshits, Gregory et al., Genetic affinities of Jewish populations., American journal of human genetics , 49-I(1), 1991, pp. 131-146

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

Authors: Budowle, Bruce Chakraborty, Ranajit Giusti, Alan M. Eisenberg, Arthur J. Allen, Robert C.

Journal: American journal of human genetics

Citation: Budowle, Bruce et al., Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE., American journal of human genetics , 48-I(1), 1991, pp. 137-144

Mothers' postcounseling beliefs about the causes of their children's genetic disorders.

Authors: Weil, Jon

Journal: American journal of human genetics

Citation: Weil, Jon, Mothers' postcounseling beliefs about the causes of their children's genetic disorders., American journal of human genetics , 48-I(1), 1991, pp. 145-153

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Authors: Vockley, Jerry Parimoo, Bhama Tanaka, Kay

Journal: American journal of human genetics

Citation: Vockley, Jerry et al., Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia., American journal of human genetics , 49-I(1), 1991, pp. 147-157

A family study of Gilles de la Tourette syndrome.

Authors: Pauls, David L. Raymond, Cindy L. Stevenson, John M. Leckman, James F.

Journal: American journal of human genetics

Citation: L. Pauls, David et al., A family study of Gilles de la Tourette syndrome., American journal of human genetics , 48-I(1), 1991, pp. 154-163

DNA polymorphisms in the controlling region of the human haptoglobin genes: a molecular explanation for the haptoglobin 2-1 modified phenotype.

Authors: Maeda,

Journal: American journal of human genetics

Citation: Maeda,, DNA polymorphisms in the controlling region of the human haptoglobin genes: a molecular explanation for the haptoglobin 2-1 modified phenotype., American journal of human genetics , 49-I(1), 1991, pp. 158-166

On the inheritance of abdominal aortic aneurysm.

Authors: Majumder, St Jean, Ferrell, Webster, Steed,

Journal: American journal of human genetics

Citation: Majumder, et al., On the inheritance of abdominal aortic aneurysm., American journal of human genetics , 48-I(1), 1991, pp. 164-170

delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.

Authors: Plewinska, Magdalena Thunell, Stig Holmberg, Lars Wetmur, James G. Desnick, Robert J.

Journal: American journal of human genetics

Citation: Plewinska, Magdalena et al., delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote., American journal of human genetics , 49-I(1), 1991, pp. 167-174

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

Authors: Forrest, S. M. Dahl, H. H. Howells, D. W. Dianzani, I. Cotton, R. G. H.

Journal: American journal of human genetics

Citation: M. Forrest, S. et al., Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples., American journal of human genetics , 49-I(1), 1991, pp. 175-183

In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA

Authors: Montanaro, Vittorio Casamassimi, Amelia D'Urso, Michele Yoon, Jae-Young Freije, Wadiha Schlessinger, David Muenke, Maximilian Nussbaum, Robert L. Saccone, Salvatore Maugeri, Silvana Santoro, Anna Maria Motta, Salvatore Della Valle, Giuliano

Journal: American journal of human genetics

Citation: Montanaro, Vittorio et al., In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA, American journal of human genetics , 48-I(2), 1991, pp. 183-194

A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

Authors: Kirchgessner, Cordula U. Trofatter, James A. Mahtani, Melanie M. Willard, Huntington F. DeGennaro, Louis J.

Journal: American journal of human genetics

Citation: U. Kirchgessner, Cordula et al., A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes., American journal of human genetics , 49-I(1), 1991, pp. 184-191

Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.

Authors: Jacobson, Daniel R. Reveille, John D. Buxbaum, Joel N.

Journal: American journal of human genetics

Citation: R. Jacobson, Daniel et al., Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population., American journal of human genetics , 49-I(1), 1991, pp. 192-198

Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues.

Authors: Cohen, Ira L. Sudhalter, Vicki Pfadt, Al Jenkins, Edmund C. Brown, W. Ted Vietze, Peter M.

Journal: American journal of human genetics

Citation: L. Cohen, Ira et al., Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues., American journal of human genetics , 48-I(2), 1991, pp. 195-202

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors: Oetting, William S. Mentink, Margaret M. Summers, C. Gail Lewis, Richard A. White, James G. King, Richard A.

Journal: American journal of human genetics

Citation: S. Oetting, William et al., Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism., American journal of human genetics , 49-I(1), 1991, pp. 199-206

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Authors: Zeviani, Massimo Amati, Patrizia Bresolin, Nereo Antozzi, Carlo Piccolo, Giovanni Toscano, Antonio DiDonato, Stefano

Journal: American journal of human genetics

Citation: Zeviani, Massimo et al., Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)., American journal of human genetics , 48-I(2), 1991, pp. 203-211

Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors: Grompe, Markus Caskey, C. Thomas Fenwick, Raymond G.

Journal: American journal of human genetics

Citation: Grompe, Markus et al., Improved molecular diagnostics for ornithine transcarbamylase deficiency., American journal of human genetics , 48-I(2), 1991, pp. 212-222

A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin.

Authors: Chehab, Farid F. Johnson, John Louie, Elaine Goossens, Michel Kawasaki, Ernie Erlich, Henry

Journal: American journal of human genetics

Citation: F. Chehab, Farid et al., A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the delta F508 mutation: implications for prenatal diagnosis and mutation origin., American journal of human genetics , 48-I(2), 1991, pp. 223-226

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