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Results : 51-75/195

New polymorphisms at the dxs98 locus and confirmation of its location proximal to fraxa by in situ hybridization

Authors: Schnur, Rhonda E Ledbetter, Susan A. Ledbetter, David H. Merry, Diane E. Nussbaum, Robert L.

Journal: American journal of human genetics

Citation: E. Schnur, Rhonda et al., New polymorphisms at the dxs98 locus and confirmation of its location proximal to fraxa by in situ hybridization, American journal of human genetics , 44(2), 1989, pp. 248-254

Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RBI gene

Authors: Scheffer, Hans Meerman, Gerard J. te Kruize, Yvonne C. M. van den Bere, Anke H. M. Penninga, Dirk P. Tan, Karel E. W. P. Kinderen, Daan J. der Buys, Charles H. C. M.

Journal: American journal of human genetics

Citation: Scheffer, Hans et al., Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RBI gene, American journal of human genetics , 45-I(2), 1989, pp. 252-260

Assignment of autosomal dominant spinocerebellar ataxia (scal) centromeric to the hla region on the short arm of chromosome 6, using multilocus linkage analysis

Authors: Zoghbi, Huda Y. Sandkuyl, Lodewyk A. Ott, jurg P. Daiger, Stephen Pollack, Marilyn O'Brien, William E Beaudet, Arthur L.

Journal: American journal of human genetics

Citation: Y. Zoghbi, Huda et al., Assignment of autosomal dominant spinocerebellar ataxia (scal) centromeric to the hla region on the short arm of chromosome 6, using multilocus linkage analysis, American journal of human genetics , 44(2), 1989, pp. 255-263

Genetic analysis of HA in the U.S. schmiedenleut hutterites

Authors: Kostyu, Donna D. Ober, Carole L. Dawson, Deborah V. Ghanayem, Manar Elias, Sherman Martin, Alice O.

Journal: American journal of human genetics

Citation: D. Kostyu, Donna et al., Genetic analysis of HA in the U.S. schmiedenleut hutterites, American journal of human genetics , 45-I(2), 1989, pp. 261-269

Androgen receptor locus on the human x chromosome: regional localization to xg11-12 and description of a dna polymorphism

Authors: Brown, Carolyn J. Goss, Stephen J. Lubahn, Dennis B. Joseph, David R. Wilson, Elizabeth M. French, Frank S. Willard, Huntington F.

Journal: American journal of human genetics

Citation: J. Brown, Carolyn et al., Androgen receptor locus on the human x chromosome: regional localization to xg11-12 and description of a dna polymorphism, American journal of human genetics , 44(2), 1989, pp. 264-269

ATfresno: a phenotype linking ataxia-telangiectasia with the nijmegen breakage syndrome

Authors: Curry, Cynthia J. R. O'Lagur, Patricia Tsai, J. Hutchison, H. T. Jaspers, N. G. J. Wara, Diane Gatti, Richard A.

Journal: American journal of human genetics

Citation: R. Curry, Cynthia J. et al., ATfresno: a phenotype linking ataxia-telangiectasia with the nijmegen breakage syndrome, American journal of human genetics , 45-I(2), 1989, pp. 270-275

Prenatal diagnosis of duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cdna analysis

Authors: Ward, Patricia A. Hejtmancik, J. Fielding Witkowski, Jan A. Baumbach, Lisa L. Gunnell, Sandra Speer, James Haley, Pamela Tantravahi, Umadevi Caskey, C. Thomas Latt, Samuel

Journal: American journal of human genetics

Citation: A. Ward, Patricia et al., Prenatal diagnosis of duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cdna analysis, American journal of human genetics , 44(2), 1989, pp. 270-281

Assignment of human genes for phosphorylase kinase subunits a (PHKA) to XqI2-q13 and B (PHKB) to 16qI2-q13

Authors: Francke, Uta Darras, Basil T. Zander, Norbert F. Kilimann, Manfred K.

Journal: American journal of human genetics

Citation: Francke, Uta et al., Assignment of human genes for phosphorylase kinase subunits a (PHKA) to XqI2-q13 and B (PHKB) to 16qI2-q13, American journal of human genetics , 45-I(2), 1989, pp. 276-282

Loss of heterozygosity in a gene coding for a thyroid hormone receptor in lung cancers

Authors: Leduc, François Brauch, Hiltrud Hajj, Camille Dobrovic, Alexander Kaye, Frederick Gazdar, Adi Harbour, J. William Pettengill, Olive S. Sorenson, George D. van den Berg, A. Kok, K. Campling, Barbara Paquin, François Bradley, W. E. C. Zbar, Berton Minna, John Buys, Charles Ayoub, Joseph

Journal: American journal of human genetics

Citation: Leduc, François et al., Loss of heterozygosity in a gene coding for a thyroid hormone receptor in lung cancers, American journal of human genetics , 44(2), 1989, pp. 282-287

Genomic organization of the human asparagine transfer rna genes: localization to the UI rna gene and class I pseudogene repeat units

Authors: Richard A. Buckland

Journal: American journal of human genetics

Citation: Richard A. Buckland, Genomic organization of the human asparagine transfer rna genes: localization to the UI rna gene and class I pseudogene repeat units, American journal of human genetics , 45-I(2), 1989, pp. 283-295

The economics of clinical genetics services. IIl. cognitive genetics services are not self-supporting

Authors: Bernhardt, Barbara A. Pyeritz, Reed E.

Journal: American journal of human genetics

Citation: A. Bernhardt, Barbara et E. Pyeritz, Reed, The economics of clinical genetics services. IIl. cognitive genetics services are not self-supporting, American journal of human genetics , 44(2), 1989, pp. 288-293

Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5

Authors: Overhauser, Joan Bengtsson, Ulla McMahon, Jeannette Ulm, Janet Butler, Merlin G. Santiago, Lyric Wasmuth, John J.

Journal: American journal of human genetics

Citation: Overhauser, Joan et al., Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5, American journal of human genetics , 45-I(2), 1989, pp. 296-303

Linkage analysis of families with fragile-X mental retardation, Using a novel RFLP marker (DXS 304)

Authors: Dahl, N. Goonewardena, P. Malmgren, H. Gustavson, K.-H. Holmgren, G. Seemanova, E. Annerén, G. Flood, A. Pettersson, U.

Journal: American journal of human genetics

Citation: N. Dahl, et al., Linkage analysis of families with fragile-X mental retardation, Using a novel RFLP marker (DXS 304), American journal of human genetics , 45-I(2), 1989, pp. 304-309

Analysis of dna polymorphism haplotypes linked to the cystic fibrosis locus in north american black and caucasian families supports the existence of multiple mutations of the cystic fibrosis gene

Authors: Cutting, Gary R. Antonarakis, Stylianos E. Buetow, Kenneth H. Kasch, Laura M. Rosenstein, Beryl J. Kazazian, Haig H. jr. ,

Journal: American journal of human genetics

Citation: R. Cutting, Gary et al., Analysis of dna polymorphism haplotypes linked to the cystic fibrosis locus in north american black and caucasian families supports the existence of multiple mutations of the cystic fibrosis gene, American journal of human genetics , 44(3), 1989, pp. 307-318

Polymorphic DNA haplotypes at the phenylalanine Hydroxylase (PAH) locus in european Families with phenylketonuria (PKU)

Authors: Daiger, Stephen P. Chakraborty, Ranajit Reed, Lori Fekete, György Schuler, Dezso Berenssi, György Nasz, istvan Brdicka, Radim Kamaryt, Jaromir Pijáèková, Anna Sullivan, Sharon Woo, Savio L. C.

Journal: American journal of human genetics

Citation: P. Daiger, Stephen et al., Polymorphic DNA haplotypes at the phenylalanine Hydroxylase (PAH) locus in european Families with phenylketonuria (PKU), American journal of human genetics , 45-I(2), 1989, pp. 310-318

Polymorphic DNA haplotypes at the phenlalanine hydroxylase (PAH) locus in asian families with phenylketonuria (PKU)

Authors: Daiger, Stephen P. Reed, Lori Huang, Shu-Shen Zeng, YiTao Wang, Tao Lo, Wilson H. Y. Okano, Yoshiyuki Hase, Yutaka Fukuda, Y. Oura, Toshiaki Tada, Keiya Woo, Savio L. C.

Journal: American journal of human genetics

Citation: P. Daiger, Stephen et al., Polymorphic DNA haplotypes at the phenlalanine hydroxylase (PAH) locus in asian families with phenylketonuria (PKU), American journal of human genetics , 45-I(2), 1989, pp. 319-324

Linkage disequilibrium, cystic fibrosis, and genetic counseling

Authors: Beaudet, Arthur L. Feldman, Gerald L. Fernbach, Susan D. Buffone, Gregory J. O'Brien, William E.

Journal: American journal of human genetics

Citation: L. Beaudet, Arthur et al., Linkage disequilibrium, cystic fibrosis, and genetic counseling, American journal of human genetics , 44(3), 1989, pp. 319-326

Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage

Authors: Kamatani, Naoyuki Kuroshima, Shoko Terai, Chihiro Hidaka, Yuji Palella, Thomas D. Nishioka, Kusuki

Journal: American journal of human genetics

Citation: Kamatani, Naoyuki et al., Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage, American journal of human genetics , 45-I(2), 1989, pp. 325-331

Genealogical analysis of cystic fibrosis families and chromosome 7q rflp maplotynes in the hutterite brethren

Authors: Fujiwara, T. Mary Morgan, Kenneth Schwartz, Robert H. Doherty, Richard A. Miller, Shelley R. Klinger, Katherine Stanislovitis, Pat Stuart, Nancy Watkins, Paul C.

Journal: American journal of human genetics

Citation: Fujiwara, T. Mary et al., Genealogical analysis of cystic fibrosis families and chromosome 7q rflp maplotynes in the hutterite brethren, American journal of human genetics , 44(3), 1989, pp. 327-337

Placental mosaicism and intrauterine survival of trisomies 13 and 18

Authors: Kalousek, Damar K. Barrett, Irene I. McGillivray, Barbara C.

Journal: American journal of human genetics

Citation: K. Kalousek, Damar et al., Placental mosaicism and intrauterine survival of trisomies 13 and 18, American journal of human genetics , 44(3), 1989, pp. 338-343

Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6

Authors: Kennaway, Nancy G. Stankova, Libuse Wirtz, Mary K. Weleber, Richard G.

Journal: American journal of human genetics

Citation: G. Kennaway, Nancy et al., Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6, American journal of human genetics , 44(3), 1989, pp. 344-352

Association of genetic variation of the transforming growth factor alpha gene with cleft lip and palate

Authors: Ardinger, Holly H. Buetow, Kenneth H. Bardach, Graeme I. Bell. lanuz VanDemark, Duane R. Murray, Jeffrey C.

Journal: American journal of human genetics

Citation: H. Ardinger, Holly et al., Association of genetic variation of the transforming growth factor alpha gene with cleft lip and palate, American journal of human genetics , 45-I(3), 1989, pp. 348-353

Inheritance of ornithine aminotransferase gene, mrna, and enzyme defect in a family with gyrate atrophy of the choroid and retina

Authors: Hotta, Yoshihiro Kennaway, Nancy G. Weleber, Richard G. Inana, George

Journal: American journal of human genetics

Citation: Hotta, Yoshihiro et al., Inheritance of ornithine aminotransferase gene, mrna, and enzyme defect in a family with gyrate atrophy of the choroid and retina, American journal of human genetics , 44(3), 1989, pp. 353-357

A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution

Authors: Markert, M. Louise Norby-Slycord, Colette Ward, Frances E.

Journal: American journal of human genetics

Citation: Markert, M. Louise et al., A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution, American journal of human genetics , 45-I(3), 1989, pp. 354-361

Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase el alpha-subunit caused by a frame shift

Authors: Endo, Hitoshi Hasegawa, Kiyoshi Narisawa, Kuniaki Tada, Keiya Kagawa, Yasuo Ohta, Shigeo

Journal: American journal of human genetics

Citation: Endo, Hitoshi et al., Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase el alpha-subunit caused by a frame shift, American journal of human genetics , 44(3), 1989, pp. 358-364

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