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Results : 76-100/138

An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.

Authors: Hayward, Caroline Livingstone, Jean Holloway, Susan Liston, William A. Brock, David J. H.

Journal: American journal of human genetics

Citation: Hayward, Caroline et al., An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance., American journal of human genetics , 50-II(4), 1992, pp. 749-757

Absence of the Asian-specific region V mitochondrial marker in Native Beringians.

Authors: Shields, Gerald F. Hecker, Kristen Voevoda, Mikhail I. Reed, Judy K.

Journal: American journal of human genetics

Citation: F. Shields, Gerald et al., Absence of the Asian-specific region V mitochondrial marker in Native Beringians., American journal of human genetics , 50-II(4), 1992, pp. 758-765

Evolutionary origin of mutations in the primate cytochrome P450c21 gene.

Authors: Kawaguchi, Hiroshi O'hUigin, Colm Klein, Jan

Journal: American journal of human genetics

Citation: Kawaguchi, Hiroshi et al., Evolutionary origin of mutations in the primate cytochrome P450c21 gene., American journal of human genetics , 50-II(4), 1992, pp. 766-780

Origin heterogeneity of Hb Lepore-Boston gene in Italy

Authors: Fioretti, G. De Angioletti, M. Masciangelo, F. Lacerra, G. Scarallo, A. de Bonis, C. Pagano, L. Guarino, E. Rosa, L. Salvati, F. Carestia, C.

Journal: American journal of human genetics

Citation: G. Fioretti, et al., Origin heterogeneity of Hb Lepore-Boston gene in Italy, American journal of human genetics , 50-II(4), 1992, pp. 781-786

Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.

Authors: Ashton, L. J. Brooks, D. A. McCourt, P. A. G. Muller, V. J. Clements, P. R. Hopwood, J. J.

Journal: American journal of human genetics

Citation: J. Ashton, L. et al., Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients., American journal of human genetics , 50-II(4), 1992, pp. 787-794

Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Authors: Jin, Wei-Dong Jackson, Christine E. Desnick, Robert J. Schuchman, Edward H.

Journal: American journal of human genetics

Citation: Jin, Wei-dong et al., Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity., American journal of human genetics , 50-II(4), 1992, pp. 795-800

Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2.

Authors: Oosterwijk, Jan C. Nelen, Marcel van Zandvoort, Peter M. van Osch, Loes D. M. Oranje, Arnold P. Wittebol-Post, Dienke van Oost, Bernard A.

Journal: American journal of human genetics

Citation: C. Oosterwijk, Jan et al., Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2., American journal of human genetics , 50-II(4), 1992, pp. 801-807

Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors: Kupke, Kenneth G. Graeber, Manuel B. Müller, Ulrich

Journal: American journal of human genetics

Citation: G. Kupke, Kenneth et al., Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1., American journal of human genetics , 50-II(4), 1992, pp. 808-815

PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation.

Authors: Sajantila, Antti Budowle, Bruce M Ström, Marjanne Johnsson, Vivian Lukka, Matti Peltonen, Leena Ehnholm, Christian

Journal: American journal of human genetics

Citation: Sajantila, Antti et al., PCR amplification of alleles at the DIS80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation., American journal of human genetics , 50-II(4), 1992, pp. 816-825

The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3.

Authors: Ginzinger, David G. Shridhar, Viji Baldini, Antonio Taggart, R. Thomas Miller, O. J. Smith, David I.

Journal: American journal of human genetics

Citation: G. Ginzinger, David et al., The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3., American journal of human genetics , 50-II(4), 1992, pp. 826-833

Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

Authors: Mules, Emilie H. Hayflick, Susan Miller, Carol S. Reynolds, Linda W. Thomas, George H.

Journal: American journal of human genetics

Citation: H. Mules, Emilie et al., Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals., American journal of human genetics , 50-II(4), 1992, pp. 834-841

PRB2/1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes PRB1 and PRB2.

Authors: Azen, E. A. O'Connell, P. Kim, H. -S.

Journal: American journal of human genetics

Citation: A. Azen, E. et al., PRB2/1 fusion gene: a product of unequal and homologous crossing-over between proline-rich protein (PRP) genes PRB1 and PRB2., American journal of human genetics , 50-II(4), 1992, pp. 842-851

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Authors: Tatuch, Y. Christodoulou, J. Feigenbaum, A. Clarke, J. T. R. Wherret, J. Smith, C. Rudd, N. Petrova-Benedict, R. Robinson, B. H.

Journal: American journal of human genetics

Citation: Y. Tatuch, et al., Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high., American journal of human genetics , 50-II(4), 1992, pp. 852-858

A multilocus extension of the affected-pedigree-member method of linkage analysis.

Authors: Weeks, Daniel E. Lange, Kenneth

Journal: American journal of human genetics

Citation: E. Weeks, Daniel et Lange, Kenneth, A multilocus extension of the affected-pedigree-member method of linkage analysis., American journal of human genetics , 50-II(4), 1992, pp. 859-868

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Authors: Muller, Bertram Melki, Judith Burlet, Philippe Clerget-Darpoux, Fransoise

Journal: American journal of human genetics

Citation: Muller, Bertram et al., Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q., American journal of human genetics , 50-II(5), 1992, pp. 892-895

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

Authors: McClatchey, Andrea I. Trofatter, James McKenna-Yasek, Diane Raskind, Wendy Bird, Thomas Pericak-Vance, Margaret Gilchrist, James Arahata, Kiichi Radosavljevic, Danica Worthen, Hilary G. Van den Bergh, Peter Haines, Jonathan L. Gusella, James F. Brown, Robert H.

Journal: American journal of human genetics

Citation: I. Mcclatchey, Andrea et al., Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita, American journal of human genetics , 50-II(5), 1992, pp. 896-901

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

Authors: Farrer, Lindsay A. Grundfast, Kenneth M Amos, Jean Arnos, Kathleen S. Asher, James H. Beighton, Peter Diehl, Scott R. Fex, Jörgen Foy, Carole Friedman, Thomas B. Greenberg, Jacquie Hoth, Christopher Marazita, Mary Milunsky, Aubrey Morell, Robert Nance, Walter Newton, Valerie Ramesar, Rajkumar San Agustin, Theresa B. Skare, James Stevens, Cathy A. Wagner, Ronald G. Wilcox,Edward R. Winship, Ingrid Read, Andrew P.

Journal: American journal of human genetics

Citation: A. Farrer, Lindsay et al., Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium, American journal of human genetics , 50-II(5), 1992, pp. 902-913

The presence of interstitial telomeric sequences in constitutional chromosome abnormalities.

Authors: Park, Vicki Murtif Gustashaw, Karen M. Wathen, Theresa M.

Journal: American journal of human genetics

Citation: Park, Vicki Murtif et al., The presence of interstitial telomeric sequences in constitutional chromosome abnormalities., American journal of human genetics , 50-II(5), 1992, pp. 914-923

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors: Driscoll, Deborah A. Budarf, Marcia L. Emanuel, Beverly S.

Journal: American journal of human genetics

Citation: A. Driscoll, Deborah et al., A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11., American journal of human genetics , 50-II(5), 1992, pp. 924-933

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

Authors: Moraes, Carlos T. Ricci, Enzo Bonilla, Eduardo DiMauro, Salvatore Schon, Eric A.

Journal: American journal of human genetics

Citation: T. Moraes, Carlos et al., The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle., American journal of human genetics , 50-II(5), 1992, pp. 934-949

Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.

Authors: Klein, Christopher J. Coovert, Daniel D. Bulman, Dennis E. Ray, Peter N. Mendell, Jerry R. Burghes, Arthur H. M.

Journal: American journal of human genetics

Citation: J. Klein, Christopher et al., Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers., American journal of human genetics , 50-II(5), 1992, pp. 950-959

Germinal mosaicism and risk calculation in X-linked diseases.

Authors: Jeanpierre, Marc

Journal: American journal of human genetics

Citation: Jeanpierre, Marc, Germinal mosaicism and risk calculation in X-linked diseases., American journal of human genetics , 50-II(5), 1992, pp. 960-967

Fragile-X syndrome: Unique genetics of the heritable unstable element

Authors: Yu, S. Mulley, J. Loesch, D. Turner, G. Donnelly, A. Gedeon, A. Hillen, D. Kremer, E. Lynch, M. Pritchard, M. Sutherland, G. R. Richards R. I.

Journal: American journal of human genetics

Citation: S. Yu, et al., Fragile-X syndrome: Unique genetics of the heritable unstable element, American journal of human genetics , 50-II(5), 1992, pp. 968-980

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2

Authors: Biancalana, V. Briard, M. L. David, A. Gilgenkrantz, S. Kaplan, J. Mathieu, M. Piussan, C. Poncin, J. Schinzel, A. Oudet, C. Hanauer, A.

Journal: American journal of human genetics

Citation: V. Biancalana, et al., Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2, American journal of human genetics , 50-II(5), 1992, pp. 981-987

Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.

Authors: Lindgren, Valerie Bryke, Christine R. Ozcelik, Tayfun Yang-Feng, Teresa L. Francke, Uta

Journal: American journal of human genetics

Citation: Lindgren, Valerie et al., Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis., American journal of human genetics , 50-II(5), 1992, pp. 988-997

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