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Results : 1-25/195

XX true hermaphroditism in southern african blacks: an enigma of primary sexual differentiation

Authors: Ramsay, Michele Bernstein, Renee Zwane, Esther Page, David C. Jenkins, Trefor

Journal: American journal of human genetics

Citation: Ramsay, Michele et al., XX true hermaphroditism in southern african blacks: an enigma of primary sexual differentiation, American journal of human genetics , 43-I(1), 1988, pp. 4-13

The william allan memorial award address: X-Chromosome inactivation and the location and expression of X-linked genes

Authors: Lyon, Mary F.

Journal: American journal of human genetics

Citation: F. Lyon, Mary, The william allan memorial award address: X-Chromosome inactivation and the location and expression of X-linked genes, American journal of human genetics , 42(1), 1988, pp. 8-16

Hypertension and sodium-lithium countertransport in Utah pedigrees: evidence for major-locus inheritance

Authors: Hasstedt, Sandra J. Wu, Lily L. Ash, K. Owen Kuida, Hiroshi Williams, Roger R.

Journal: American journal of human genetics

Citation: J. Hasstedt, Sandra et al., Hypertension and sodium-lithium countertransport in Utah pedigrees: evidence for major-locus inheritance, American journal of human genetics , 43-I(1), 1988, pp. 14-22

Evidence for ffrequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

Authors: Higashi, Yujiro Tanae, Ayako Inoue, Hideshi Fuji-Kuriyama, Yoshiaki

Journal: American journal of human genetics

Citation: Higashi, Yujiro et al., Evidence for ffrequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency, American journal of human genetics , 42(1), 1988, pp. 17-25

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in italian families: a collaborative study

Authors: Estivill, Xavier Farrall, Martin Williamson, Robert Ferrari, Maurizio Seia, Manuela Giunta, Anna Maria Novelli, Giuseppe Potenza, Lucia Dallapicolla, Bruno Borgo, Graziella Gasparini, Paolo Pignatti, Pier F. De Benedetti, Laura Vitale, Emilia Devoto, Marcella Romeo, Giovanni

Journal: American journal of human genetics

Citation: Estivill, Xavier et al., Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in italian families: a collaborative study, American journal of human genetics , 43-I(1), 1988, pp. 23-28

Human cytochrome P-450 PB-l: a multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10

Authors: Meehan, R. R. Gosden, J. R. Rout, D. Hastie, N. D. Friedberg, T. Adesnik, M. Buckland, R. van Heyningen, V. Fletcher, J. Spurr, N. K. Sweeney,J. Wolf, C. R.

Journal: American journal of human genetics

Citation: R. Meehan, R. et al., Human cytochrome P-450 PB-l: a multigene family involved in mephenytoin and steroid oxidations that maps to chromosome 10, American journal of human genetics , 42(1), 1988, pp. 26-37

Combined linkage and segregation analysis using regressive models

Authors: Ebow Bonney, George Lathrop, G. Mark Lalouel, Jean-Marc

Journal: American journal of human genetics

Citation: Ebow Bonney, George et al., Combined linkage and segregation analysis using regressive models, American journal of human genetics , 43-I(1), 1988, pp. 29-37

Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene

Authors: Lathrop, G. M. Farrall, M. O'Connell, P. Wainwright, B. Leppert, M. Nakamura, Y. Lench, N. Kruyer, H. Dean, M. Park, M. Vande Woude, G. Lalouel, I.-M. Williamson, R. White, R.

Journal: American journal of human genetics

Citation: M. Lathrop, G. et al., Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene, American journal of human genetics , 42(1), 1988, pp. 38-44

Models of multilocus recombination: nonrandomness in chiasma number and crossover positions

Authors: Goldgar, David E. Fain, Pamela R.

Journal: American journal of human genetics

Citation: E. Goldgar, David et R. Fain, Pamela, Models of multilocus recombination: nonrandomness in chiasma number and crossover positions, American journal of human genetics , 43-I(1), 1988, pp. 38-45

Detection of a not polymorphism with the pmetH probe by pulsed-field gel electrophoresis

Authors: Julier, Cécile White, Ray

Journal: American journal of human genetics

Citation: Julier, Cécile et White, Ray, Detection of a not polymorphism with the pmetH probe by pulsed-field gel electrophoresis, American journal of human genetics , 42(1), 1988, pp. 45-48

Auditory brain-stem responses in the fragile X syndrome

Authors: Arinami, Tadao Sato, Miki Nakajima, Susumu Kondo, Ikuko

Journal: American journal of human genetics

Citation: Arinami, Tadao et al., Auditory brain-stem responses in the fragile X syndrome, American journal of human genetics , 43-I(1), 1988, pp. 46-51

Application of flow karyotyping in prenatal detection of chromosome aberrations

Authors: Gray, J. W. Trask, B. van den Engh, G. Silva, A. Lozes, C. Grell, S. Schonberg, S. Yu, L.-C. Golbus, M. S.

Journal: American journal of human genetics

Citation: W. Gray, J. et al., Application of flow karyotyping in prenatal detection of chromosome aberrations, American journal of human genetics , 42(1), 1988, pp. 49-59

Assignment of the functional gene for human adrenodoxin to chromosome IIq13 - qter and of adrenodoxin pseudogenes to chromosome 20cen - q13.1

Authors: Morel, Yves Picado-Leonard, Jarnes Wu, Du-An Chang, Chi-Yap Mohandas, T. K. Chung, Bon-chu Miller, Walter L.

Journal: American journal of human genetics

Citation: Morel, Yves et al., Assignment of the functional gene for human adrenodoxin to chromosome IIq13 - qter and of adrenodoxin pseudogenes to chromosome 20cen - q13.1, American journal of human genetics , 43-I(1), 1988, pp. 52-59

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)

Authors: Langlois, Sylvie Kastelein, Johannes J. P. Hayden, Michael R.

Journal: American journal of human genetics

Citation: Langlois, Sylvie et al., Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH), American journal of human genetics , 43-I(1), 1988, pp. 60-68

A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases

Authors: Babu, Arvind Agarwal, Arvind K. Verma, Ram S.

Journal: American journal of human genetics

Citation: Babu, Arvind et al., A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases, American journal of human genetics , 42(1), 1988, pp. 60-65

Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia

Authors: Jaspers, N. G. J. Taalman, R. D. F. M. Baan, C.

Journal: American journal of human genetics

Citation: J. Jaspers, N. G. et al., Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia, American journal of human genetics , 42(1), 1988, pp. 66-73

Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6

Authors: Jabs, Ethylin wang Carpenter, Nancy

Journal: American journal of human genetics

Citation: Jabs, Ethylin Wang et Carpenter, Nancy, Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6, American journal of human genetics , 43-I(1), 1988, pp. 69-74

Evidence for linkage of charcot-marie-tooth neuropathy (CMTI) to apolipoprotein A2 (Apo-A2)

Authors: lonasescu, Victor Anderson, Richard Burns, Trudy L. Searby, Charles lonasescu, Rebecca Ferrell, Robert

Journal: American journal of human genetics

Citation: Lonasescu, Victor et al., Evidence for linkage of charcot-marie-tooth neuropathy (CMTI) to apolipoprotein A2 (Apo-A2), American journal of human genetics , 42(1), 1988, pp. 74-76

X-linked hypohidrotic ectodermal dysplasia: localization within the region XqII-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis

Authors: Zonana, Jonathan Clarke, Angus Sarfarazi, Mansoor Thomas, Nicholas S. T. Roberts, Kim Marymee, Kathi Harper, Peter S.

Journal: American journal of human genetics

Citation: Zonana, Jonathan et al., X-linked hypohidrotic ectodermal dysplasia: localization within the region XqII-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis, American journal of human genetics , 43-I(1), 1988, pp. 75-85

Emphysema associated with complete absence of alpha I-Antitrypsin of a stop codon in an alpha l-Antitrypsin-Coding exon

Authors: Satoh, Ken Nukiwa, Toshihiro Brantly, Mark Garver, Robert jr., Hofker, Marten Courtney, Michael Crystal, Ronald G.

Journal: American journal of human genetics

Citation: Satoh, Ken et al., Emphysema associated with complete absence of alpha I-Antitrypsin of a stop codon in an alpha l-Antitrypsin-Coding exon, American journal of human genetics , 42(1), 1988, pp. 77-83

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq

Authors: Saviranta, Petri Lindläf, Mikel Lehesjoki, Anna-Elina Kalimo, Hannu Lang, Heikki Sonninen, Vesa Savontaus, Marja-Liisa De la Chapelle, Albert

Journal: American journal of human genetics

Citation: Saviranta, Petri et al., Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq, American journal of human genetics , 42(1), 1988, pp. 84-88

Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fiibroblasts

Authors: Winkler, Janet K. Suttle, D. Parker

Journal: American journal of human genetics

Citation: K. Winkler, Janet et Suttle, D. Parker, Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fiibroblasts, American journal of human genetics , 43-I(1), 1988, pp. 86-94

An epidemiologic approach to ecogenetics

Authors: Khoury, Muin J. Adams, M. J. jr., Flanders, W. Dana

Journal: American journal of human genetics

Citation: J. Khoury, Muin et al., An epidemiologic approach to ecogenetics, American journal of human genetics , 42(1), 1988, pp. 89-95

Determination of the spectrum of beta-thalassemia genes in spain by use of dot-blot analysis of amplified beta-globin DNA

Authors: Amselem, S. Nunes, V. Vidaud, M. Estivill, X. Wong, C. d'Auriol, L. Vidaud, D. Galibert, F. Baiget, M. Goossens, M.

Journal: American journal of human genetics

Citation: S. Amselem, et al., Determination of the spectrum of beta-thalassemia genes in spain by use of dot-blot analysis of amplified beta-globin DNA, American journal of human genetics , 43-I(1), 1988, pp. 95-100

Screening of the philadelphia variant of galactokinase in racially unmixed black africans: first results

Authors: Soni, T. Brivet, M. Blanc, M. Jaeger, G. Lemonier, A.

Journal: American journal of human genetics

Citation: T. Soni, et al., Screening of the philadelphia variant of galactokinase in racially unmixed black africans: first results, American journal of human genetics , 42(1), 1988, pp. 96-103

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