ITA
ENG

Results: << | 101-125 | 126-150 | 151-175 | 176-200 | >>

Articles table of contents

Results : 101-125/268

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

Authors: Vilkki, Johanna Ott, Jurg Savontaus, Marja-Lissa Aula, Pertti Nikoskelainen, Eeva K.

Journal: American journal of human genetics

Citation: Vilkki, Johanna et al., Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7., American journal of human genetics , 48-I(3), 1991, pp. 486-491

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Authors: Moraes, Carlos T. Shanske, Sara Tritschler, Hans-Jurgen Aprille, June R. Bonilla, Eduardo Schon, Eric A. DiMauro, Salvatore Andreetta, Francesca

Journal: American journal of human genetics

Citation: T. Moraes, Carlos et al., mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases., American journal of human genetics , 48-I(3), 1991, pp. 492-501

Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease.

Authors: Slipetz, Deborah M. Aprille, June R. Goodyer, Paul R. Rozen, Rima

Journal: American journal of human genetics

Citation: M. Slipetz, Deborah et al., Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease., American journal of human genetics , 48-I(3), 1991, pp. 502-510

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

Authors: Lee, Brendan D'Alessio, Marina Vissing, Henrik Ramirez, Francesco Steinmann, Beat Superti-Furga, Andrea

Journal: American journal of human genetics

Citation: Lee, Brendan et al., Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV., American journal of human genetics , 48-I(3), 1991, pp. 511-517

APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease

Authors: Schellenberg, Gerard D. Anderson, Leojean O'dahl, Sheldon Wisjman, Ellen M. Sadovnick, Adele D. Ball, Melvyn J. Larson, Eric B. Kukull, Walter A. Martin, George M. Roses, Allen D. Bird, Thomas D.

Journal: American journal of human genetics

Citation: D. Schellenberg, Gerard et al., APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease, American journal of human genetics , 49-I(3), 1991, pp. 511-517

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Authors: Sher, Carron Ramesar, Rajkumar Martell, Robert Learmonth, Ian Tsipouras, Petros Beighton, Peter

Journal: American journal of human genetics

Citation: Sher, Carron et al., Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1., American journal of human genetics , 48-I(3), 1991, pp. 518-524

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

Authors: Bakker, E. van Broeckhoven, C. Haan, J. Voorhoeve, E. van Hul, W. Levy, E. Lieberburg, I. Carman, M. D. van Ommen, G. J. B. Frangione, B. Roos, R. A. C.

Journal: American journal of human genetics

Citation: E. Bakker, et al., DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type), American journal of human genetics , 49-I(3), 1991, pp. 518-521

Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

Authors: Hiltunen, Tiina Kiuru, Sari Hongell, Vera Heliö, Tiina Palo, Jorma PaloPeltonen, Leena

Journal: American journal of human genetics

Citation: Hiltunen, Tiina et al., Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families., American journal of human genetics , 49-I(3), 1991, pp. 522-528

Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.

Authors: Phaneuf, Daniel Labelle, Yves Bérubé, Dominique Arden, Karen Cavenee, Webster Gagné, Richard Tanguay, Robert M.

Journal: American journal of human genetics

Citation: Phaneuf, Daniel et al., Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15., American journal of human genetics , 48-I(3), 1991, pp. 525-535

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

Authors: Petersen, Michael B. Adelsberger, Patricia A. Schinzel, Albert A. Binkert, Franz Hinkel, Georg K. Antonarakis, Stylianos E.

Journal: American journal of human genetics

Citation: B. Petersen, Michael et al., Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal., American journal of human genetics , 49-I(3), 1991, pp. 529-536

Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease.

Authors: Kang, Soo-Sang Wong, Paul W. K. Susmano, Armando Sora, Judy Norusis, Marija Ruggie, Neal

Journal: American journal of human genetics

Citation: Kang, Soo-sang et al., Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease., American journal of human genetics , 48-I(3), 1991, pp. 536-545

The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups.

Authors: Graham, John B. Kunkel, Glenna R. Egilmez, Nejat K. Wallmark, Anders Fowlkes, Dana M. Lord, Susan T.

Journal: American journal of human genetics

Citation: B. Graham, John et al., The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups., American journal of human genetics , 49-I(3), 1991, pp. 537-544

Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

Authors: Morrison, Karen E. Mariyama, Mariko Yang-Feng, Teresa L. Reeders, Stephen T.

Journal: American journal of human genetics

Citation: E. Morrison, Karen et al., Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen., American journal of human genetics , 49-I(3), 1991, pp. 545-554

Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations.

Authors: Kang, Soo-Sang Wong, PaulW.K. Bock, Hans-Georg Otto Horwitz, Allen Grix, Art

Journal: American journal of human genetics

Citation: Kang, Soo-sang et al., Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations., American journal of human genetics , 48-I(3), 1991, pp. 546-551

Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.

Authors: Hakoda, .Masayuki Yamanaka, Hisashi Kamatani, Naoto Kamatani, Naoyuki

Journal: American journal of human genetics

Citation: Hakoda, .masayuki et al., Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes., American journal of human genetics , 48-I(3), 1991, pp. 552-562

Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence.

Authors: Dono, Rosanna Montuori, Nunzia Rocchi, Mariano De Ponti-Zilli, Liliana Ciccodicola, Alfredo Persico, M.Graziella

Journal: American journal of human genetics

Citation: Dono, Rosanna et al., Isolation and characterization of the CRIPTO autosomal gene and its X-linked related sequence., American journal of human genetics , 49-I(3), 1991, pp. 555-565

Linkage analysis of familial Alzheimer disease, using chromosome 21 markers

Authors: Schellenberg, Gerard D. Pericak-Vance, Margaret A. Wijsman, Ellen M. Moore, Deborah K. Gaskell, Perry C. Yamaoka, Larry A. Bebout, Jacqueline L. Anderson, Leojean Welsh, Kathleen A. Clark, Christopher M. Martin, George M. Roses, Allen D. Bird, Thomas D.

Journal: American journal of human genetics

Citation: D. Schellenberg, Gerard et al., Linkage analysis of familial Alzheimer disease, using chromosome 21 markers, American journal of human genetics , 48-I(3), 1991, pp. 563-583

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Authors: Nishimoto, Junji Nanba, Eiji Inui, Koji Okada, Shintaro Suzuki, Kunihiko

Journal: American journal of human genetics

Citation: Nishimoto, Junji et al., GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients., American journal of human genetics , 49-I(3), 1991, pp. 566-574

Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient.

Authors: Indo, Yasuhiro Glassberg, Robin Yokota, Ichiro Tanaka, Kay

Journal: American journal of human genetics

Citation: Indo, Yasuhiro et al., Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient., American journal of human genetics , 49-I(3), 1991, pp. 575-580

Isolation of large numbers of chromosome 3-specific cosmids containing clusters of rare restriction-endonuclease sites.

Authors: Golembieski, William A. Smith, Scott E. Recchia, Franco Judge, Andleeb Shridhar, Viji Miller, Orlando J. Drabkin, Harry Smith, David I.

Journal: American journal of human genetics

Citation: A. Golembieski, William et al., Isolation of large numbers of chromosome 3-specific cosmids containing clusters of rare restriction-endonuclease sites., American journal of human genetics , 49-I(3), 1991, pp. 581-589

Clinical and molecular diagnosis of Miller-Dieker syndrome.

Authors: Dobyns, William B. Curry, Cynthia J.R. Hoyme, Eugene Turlington, Laura Ledbetter, David H.

Journal: American journal of human genetics

Citation: B. Dobyns, William et al., Clinical and molecular diagnosis of Miller-Dieker syndrome., American journal of human genetics , 48-I(3), 1991, pp. 584-594

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

Authors: Kobayashi, Yoko Momoi, Mariko Y. Tominaga, Kaoru Shimoizumi, Hideo Nihei, Kenji Yanagisawa, Masayoshi Kagawa, Yasuo Ohta, Shigeo

Journal: American journal of human genetics

Citation: Kobayashi, Yoko et al., Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)., American journal of human genetics , 49-I(3), 1991, pp. 590-599

Linkage disequilibrium and modification of risk for Huntington disease.

Authors: Adam, Shelin Theilmann, Jane Buetow, Ken Hedrick, Amy Collins, Colin Weber, Bernard Huggins, Marlene Hayden, Michael

Journal: American journal of human genetics

Citation: Adam, Shelin et al., Linkage disequilibrium and modification of risk for Huntington disease., American journal of human genetics , 48-I(3), 1991, pp. 595-603

The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin.

Authors: Skuse, Gary R. Kosciolek, Barbara A. Rowley, Peter T.

Journal: American journal of human genetics

Citation: R. Skuse, Gary et al., The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin., American journal of human genetics , 49-I(3), 1991, pp. 600-607

Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers.

Authors: Grebner, Eugene E. Tomczak, Jerzy

Journal: American journal of human genetics

Citation: E. Grebner, Eugene et Tomczak, Jerzy, Distribution of three alpha-chain beta-hexosaminidase A mutations among Tay-Sachs carriers., American journal of human genetics , 48-I(3), 1991, pp. 604-607

Results: << | 101-125 | 126-150 | 151-175 | 176-200 | >>