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Results : 1-25/268

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

Authors: Trask, Barbara J. Massa, Hillary Kenwrick, Sue Gitschier, Jane

Journal: American journal of human genetics

Citation: J. Trask, Barbara et al., Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei., American journal of human genetics , 48-I(1), 1991, pp. 1-15

Decreased fecundability in Hutterite couples sharing HLA-DR.

Authors:

Journal: American journal of human genetics

Citation: , Decreased fecundability in Hutterite couples sharing HLA-DR., American journal of human genetics , 49-II(5), 1991, pp. 6-14

Defined physical limits of the Huntington disease gene candidate region.

Authors: Bates, G. P. MacDonald, M. E. Baxendale, S. Youngman, S. Lin, C. Whaley, W. L. Wasmuth, J. J. Gusella, J. F. Lehrach, H.

Journal: American journal of human genetics

Citation: P. Bates, G. et al., Defined physical limits of the Huntington disease gene candidate region., American journal of human genetics , 49-I(1), 1991, pp. 7-16

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.

Authors: Knoll, J. H. M. Glatt, K.A. Nicholls, R. D. Malcolm, S. Lalande, M.

Journal: American journal of human genetics

Citation: M. Knoll, J. H. et al., Chromosome 15 uniparental disomy is not frequent in Angelman syndrome., American journal of human genetics , 48-I(1), 1991, pp. 16-21

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Authors: Dixon, M.J. Read, A.P. Donnai, D. Colley, A. Dixon, J. Williamson, R.

Journal: American journal of human genetics

Citation: Dixon, M.j et al., The gene for Treacher Collins syndrome maps to the long arm of chromosome 5., American journal of human genetics , 49-I(1), 1991, pp. 17-16

Allele frequency estimation from data on relatives.

Authors: Boehnke, Michael

Journal: American journal of human genetics

Citation: Boehnke, Michael, Allele frequency estimation from data on relatives., American journal of human genetics , 48-I(1), 1991, pp. 22-25

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds

Authors: Zoghbi, Huda Y. Jodice, Carla Sandkuijl, Lodewijk A. Kwiatkowski, Thomas J. Jr McCall, Alanna E. Huntoon, Sally A. Lulli, Patrizia Spadaro, Maria Litt, Michael Cann, Howard M. Frontali, Marina Terrenato, Luciano

Journal: American journal of human genetics

Citation: Y. Zoghbi, Huda et al., The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds, American journal of human genetics , 49-I(1), 1991, pp. 23-30

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Authors: Inglehearn, C. F. Bashir, R. Lester, D. H. Jay, M. Bird, A. C. Bhattacharya, S. S.

Journal: American journal of human genetics

Citation: F. Inglehearn, C. et al., A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa., American journal of human genetics , 48-I(1), 1991, pp. 26-30

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

Authors: Alitalo, Tuina Kruse, Torben A. Forsius, Henrik Eriksson, Aldur W. de la Chapelle, Albert

Journal: American journal of human genetics

Citation: Alitalo, Tuina et al., Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis., American journal of human genetics , 48-I(1), 1991, pp. 31-38

Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p.

Authors: Ranum, Laura P. W. Duvick, Lisa A. Rich, Stephen S. Schut, Lawrence J. Litt, Michael Orr, Harry T.

Journal: American journal of human genetics

Citation: W. Ranum, Laura P. et al., Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p., American journal of human genetics , 49-I(1), 1991, pp. 31-41

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

Authors: McShane, M. A. Hammans, S. R. Sweeney, M. Holt, I. J. Beattie, T. J. Brett, E. M. Harding, A. M.

Journal: American journal of human genetics

Citation: A. Mcshane, M. et al., Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA., American journal of human genetics , 48-I(1), 1991, pp. 39-42

Complementation and maternal effect in insulin-dependent diabetes.

Authors: Clerget-Darpoux, F. Babron, M. C. Deschamps, I. Hors, J.

Journal: American journal of human genetics

Citation: F. Clerget-darpoux, et al., Complementation and maternal effect in insulin-dependent diabetes., American journal of human genetics , 49-I(1), 1991, pp. 42-48

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors: Asher, James H. Morell, Robert Friedman, Thomas B.

Journal: American journal of human genetics

Citation: H. Asher, James et al., Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q., American journal of human genetics , 48-I(1), 1991, pp. 43-52

DRB genotyping supports recessive inheritance of DR3-associated susceptibility to insulin-dependent diabetes mellitus.

Authors: Jenkins, David Fletcher,J eremy Penny, Michelle A. Mijovic, Catherine H. Jacobs, Karen H. Bradwell, Arthur R. Barnett, Anthony H. B.

Journal: American journal of human genetics

Citation: Jenkins, David et al., DRB genotyping supports recessive inheritance of DR3-associated susceptibility to insulin-dependent diabetes mellitus., American journal of human genetics , 49-I(1), 1991, pp. 49-53

Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints.

Authors: Gorski, Jerome L. Burright, Eric N. Harnden, Catherine E. Stein, Constance K. Glover, Thomas W. Reyner, Eric L.

Journal: American journal of human genetics

Citation: L. Gorski, Jerome et al., Localization of DNA sequences to a region within Xp11.21 between incontinentia pigmenti (IP1) X-chromosomal translocation breakpoints., American journal of human genetics , 48-I(1), 1991, pp. 53-64

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

Authors: Beggs, Alan H. Hoffman, Eric P. Snyder, Judith R. Arahata, Kiichi Specht, Linda Shapiro, Frederic Angelini, Corrado Sugita, Hideo Kunkel, Louis M.

Journal: American journal of human genetics

Citation: H. Beggs, Alan et al., Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies., American journal of human genetics , 49-I(1), 1991, pp. 54-67

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

Authors: Petersen, Michael B. Schinzel, Albert A. Binkert, Franz Tranebjaerg, Lisbeth Mikkelsen, Margareta Collins, Felicity A. Economou, Effrosini P. Antonarakis, Stylianos E.

Journal: American journal of human genetics

Citation: B. Petersen, Michael et al., Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome., American journal of human genetics , 48-I(1), 1991, pp. 65-71

Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.

Authors: Harley, Helen G. Brook, David Floyd, Jo Rundle, Shelley A. Crow, Steven Walsh, Kate V. Thibault, Marie-Christine Harper, Peter S. Shaw, Duncan J.

Journal: American journal of human genetics

Citation: G. Harley, Helen et al., Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker., American journal of human genetics , 49-I(1), 1991, pp. 68-75

Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria.

Authors: Straka, James G. Hill, Hazel D. Krikava, Joan M. Kools, Ann M. Bloomer, Joseph R.

Journal: American journal of human genetics

Citation: G. Straka, James et al., Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyria., American journal of human genetics , 48-I(1), 1991, pp. 72-78

Estimation of morbid risk and age at onset with missing information.

Authors: Cupples, L. Adrienne Risch, Neil Farrer, Lindsay A. Myers, Richard H.

Journal: American journal of human genetics

Citation: Cupples, L. Adrienne et al., Estimation of morbid risk and age at onset with missing information., American journal of human genetics , 49-I(1), 1991, pp. 76-87

Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Authors: Mornet, Etienne Crété, Patrice Kuttenn, Frederique Raux-Demay, Marie-Charles Boué, Joelle White, Perrin C. Boué, Andre

Journal: American journal of human genetics

Citation: Mornet, Etienne et al., Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency., American journal of human genetics , 48-I(1), 1991, pp. 79-88

Complex segregation analysis of primary hepatocellular carcinoma in Chinese families: interaction of inherited susceptibility and hepatitis B viral infection.

Authors: Shen, Fu-Min Lee, Ming K. Gong, Hui-Min Cai, Xuan-Qing King, Mary-Claire

Journal: American journal of human genetics

Citation: Shen, Fu-min et al., Complex segregation analysis of primary hepatocellular carcinoma in Chinese families: interaction of inherited susceptibility and hepatitis B viral infection., American journal of human genetics , 49-I(1), 1991, pp. 88-93

Mucopolysaccharidosis type VII: Characterization of mutations and molecular heterogeneity

Authors: Tomatsu, Shunji Fukuda, Seiji Sukegawa, Kazuko Ikedo, Yuko Yamada, Shinji Yamada, Yukiji Sasaki, Toshiya Okamoto, Hiroyuki Kuwahara, Takashi Yamaguchi, Seiji Kiman, Tadashi Shintaku, Haruo Isshiki, Gen Orii, Tadao

Journal: American journal of human genetics

Citation: Tomatsu, Shunji et al., Mucopolysaccharidosis type VII: Characterization of mutations and molecular heterogeneity, American journal of human genetics , 48-I(1), 1991, pp. 89-96

Evidence that a single gene with gender- and age-dependent effects influences systolic blood pressure determination in a population-based sample.

Authors: Pérusse, Louis Moll, Patricia P. Sing, Charles F.

Journal: American journal of human genetics

Citation: Pérusse, Louis et al., Evidence that a single gene with gender- and age-dependent effects influences systolic blood pressure determination in a population-based sample., American journal of human genetics , 49-I(1), 1991, pp. 94-105

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Authors: Finkelstein, J. E. Doege, K. Yamada, Y. Pyeritz, R. E. Graham, J. M. Moeschler, J. B. Pauli, R. M. Hecht, J. T. Francomano, C. A.

Journal: American journal of human genetics

Citation: E. Finkelstein, J. et al., Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia., American journal of human genetics , 48-I(1), 1991, pp. 97-102

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