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Results : 76-100/268

Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines.

Authors: Harrison, H. Miller, K. Ober, C. Refetoff, S. Dick, M. Elias, S.

Journal: American journal of human genetics

Citation: H. Harrison, et al., Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines., American journal of human genetics , 48-I(2), 1991, pp. 362-369

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Authors: Kwiatkowski, David J. Ozelius, Laurie Kramer, Patricia L. Perman, Scott Schuback, Deborah E. Gusella, James F. Fahn, Stanley Breakefield, Xandra O.

Journal: American journal of human genetics

Citation: J. Kwiatkowski, David et al., Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34., American journal of human genetics , 49-I(2), 1991, pp. 366-371

Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes.

Authors: Stoneking, Mark Hedgecock, Dennis Higuchi, Russell G. Vigilant, Linda Erlich, Henry A.

Journal: American journal of human genetics

Citation: Stoneking, Mark et al., Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes., American journal of human genetics , 48-I(2), 1991, pp. 370-382

A genetic study of platelet adenylate cyclase activity: evidence for a single major locus effect in fluoride-stimulated activity.

Authors: Devor, Eric J. Cloninger, Robert Hoffman, Paula L. Tabakoff, Boris

Journal: American journal of human genetics

Citation: J. Devor, Eric et al., A genetic study of platelet adenylate cyclase activity: evidence for a single major locus effect in fluoride-stimulated activity., American journal of human genetics , 49-I(2), 1991, pp. 372-377

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Authors: Ptacek, Louis J. Tyler, Frank Trimmer, James S. Agnew, William S. Leppert, Mark

Journal: American journal of human genetics

Citation: J. Ptacek, Louis et al., Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus., American journal of human genetics , 49-I(2), 1991, pp. 378-382

No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles.

Authors: Xiong, Weijun Li, Wen-Hsiung Posner, Israel Yamamura, Taku Yamamoto, Akira Gotto Jr, Antonio M. Chan, Lawrence

Journal: American journal of human genetics

Citation: Xiong, Weijun et al., No severe bottleneck during human evolution: evidence from two apolipoprotein C-II deficiency alleles., American journal of human genetics , 48-I(2), 1991, pp. 383-389

Human monoamine oxidase A gene determines levels of enzyme activity.

Authors: Hotamisligil, Gokhan S. Breakefield, Xandra O.

Journal: American journal of human genetics

Citation: S. Hotamisligil, Gokhan et O. Breakefield, Xandra, Human monoamine oxidase A gene determines levels of enzyme activity., American journal of human genetics , 49-I(2), 1991, pp. 383-392

Protection against malaria morbidity: Near-fixation of the .-thalassemia gene in a Nepalese population

Authors: Modiano, G. Morpurgo, G. Terrenato, L. Novelletto, A. Di Rienzo, A. Colombo, B. Purpura, M. Mariani, M. Santachiara-Benerecetti, S. Brega, A. Dixit, K. A. Shrestha, S. L. Lania, A. Wanachiwanawin, W. Luzzatto, L.

Journal: American journal of human genetics

Citation: G. Modiano, et al., Protection against malaria morbidity: Near-fixation of the .-thalassemia gene in a Nepalese population, American journal of human genetics , 48-I(2), 1991, pp. 390-397

Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

Authors: Avigad, S. Kleiman, S. Weinstein, M. Cohen, B. E. Schwartz, G. Woo, L. C. Shiloh, Y.

Journal: American journal of human genetics

Citation: S. Avigad, et al., Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria., American journal of human genetics , 49-I(2), 1991, pp. 393-399

Genetic population structure of Italy. II. Physical and cultural barriers to gene flow.

Authors: Barbujani, Guido Sokal, Robert R.

Journal: American journal of human genetics

Citation: Barbujani, Guido et R. Sokal, Robert, Genetic population structure of Italy. II. Physical and cultural barriers to gene flow., American journal of human genetics , 48-I(2), 1991, pp. 398-411

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

Authors: D'Alessio, Marina Ramirez, Francesco Blumberg, Bruce D. Wirtz, Mary K, Rao, Validi H. Godfrey, Maurice D. Hollister, David W.

Journal: American journal of human genetics

Citation: D'Alessio, Marina et al., Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity., American journal of human genetics , 49-I(2), 1991, pp. 400-406

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Authors: Gieselmann, Volkmar Fluharty, Arvan L. Tønnesen, Tønne Von Figura, Kurt

Journal: American journal of human genetics

Citation: Gieselmann, Volkmar et al., Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy., American journal of human genetics , 49-I(2), 1991, pp. 407-413

Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.

Authors: Navon, Ruth Proia, Richard L.

Journal: American journal of human genetics

Citation: Navon, Ruth et L. Proia, Richard, Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase., American journal of human genetics , 48-I(2), 1991, pp. 412-419

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Authors: Chun, Kathy MacKay, Nevi Petrova-Benedict, Roumyana Robinson, Brian H.

Journal: American journal of human genetics

Citation: Chun, Kathy et al., Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene., American journal of human genetics , 49-I(2), 1991, pp. 414-420

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Authors: Delfau, M.H. Picat, C. De Rooij, F. Voortman, G. Deybach, J.C. Nordmann, Y. Grandchamp, B.

Journal: American journal of human genetics

Citation: Delfau, M.h et al., Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease., American journal of human genetics , 49-I(2), 1991, pp. 421-428

Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Authors: Fisher, Carolyn R. Fisher , Charles W. Chuang, David T. Cox, Rody P.

Journal: American journal of human genetics

Citation: R. Fisher, Carolyn et al., Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population., American journal of human genetics , 49-I(2), 1991, pp. 429-434

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Authors: Yoshida, Kunihiro Oshima, Akihiro Shimmoto, Michie Fukuhara, Yukiko Sakuraba, Hitoshi Yanagisawa, Nobuo Suzuki, Yoshiyuki

Journal: American journal of human genetics

Citation: Yoshida, Kunihiro et al., Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases., American journal of human genetics , 49-I(2), 1991, pp. 435-442

Prenatal screening for hemoglobinopathies. I. A prospective regional trial.

Authors: Rowley, Peter T. Loader, Starlene Sutera, Carol J. Walden, Margaret Kozyra, Alyssa

Journal: American journal of human genetics

Citation: T. Rowley, Peter et al., Prenatal screening for hemoglobinopathies. I. A prospective regional trial., American journal of human genetics , 48-I(3), 1991, pp. 439-446

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Authors: Meiner, Vardiella Landsberger, Daniel Berkman, Neville Reshef, Ayeleth Segal, Pesach Seftel, Harry C. van der Westhuyzen, Deneys R, Jeenah, Muhammad S. Coetzee, Gerhard A. Leitersdorf, Eran

Journal: American journal of human genetics

Citation: Meiner, Vardiella et al., A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews., American journal of human genetics , 49-I(2), 1991, pp. 443-449

Prenatal screening for hemoglobinopathies. II. Evaluation of counseling.

Authors: Loader, Starlene Sutera, Carol J. Walden, Margaret Kozyra, Alyssa Rowley, Peter T.

Journal: American journal of human genetics

Citation: Loader, Starlene et al., Prenatal screening for hemoglobinopathies. II. Evaluation of counseling., American journal of human genetics , 48-I(3), 1991, pp. 447-451

Are the Basques a single and a unique population?

Authors: Aguirre, A. Vicario, A. Mazón, L.I. Estomba, A. de Pancorbo, M.Martinez Picó, V. Arrieta Elortondo, F. Perez Lostao, C.M.

Journal: American journal of human genetics

Citation: A. Aguirre, et al., Are the Basques a single and a unique population?, American journal of human genetics , 49-I(2), 1991, pp. 450-458

Prenatal screening for hemoglobinopathies. III. Applicability of the health belief model.

Authors: Rowley, Peter T. Loader, Starlene Sutera, Carol J. Walden, Margaret Kozyra, Alyssa

Journal: American journal of human genetics

Citation: T. Rowley, Peter et al., Prenatal screening for hemoglobinopathies. III. Applicability of the health belief model., American journal of human genetics , 48-I(3), 1991, pp. 452-459

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

Authors: Suthers, G. K. Mulley, J. C. Voelckel, M. A. Dahl, N. Väisänen, M. L. Steinbach, P. Glass, I. A. Schwartz, C. E. van Oost, B. A. Thibodeau, S.N. Haites, N. E. Oostra, B. A. Giné, R. Carballo, M. Morris, C.P. Hopwood, J.J. Sutherland, G.R.

Journal: American journal of human genetics

Citation: K. Suthers, G. et al., Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome, American journal of human genetics , 48-I(3), 1991, pp. 460-467

Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.

Authors: Consalez, G. Giacomo Thomas, Nick S. T. Stayton, Carol L. Knight, Samantha J. L. Johnson, Mae Hopkins, Linton C. Harper, Peter S. Elsas, Louis J. Warren, Stephen T.

Journal: American journal of human genetics

Citation: Consalez, G. Giacomo et al., Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study., American journal of human genetics , 48-I(3), 1991, pp. 468-480

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Authors: Bolhuis, P. A. Hensels, G. W. Hulsebos, T. J. M. Baas, F. Barth, P. G.

Journal: American journal of human genetics

Citation: A. Bolhuis, P. et al., Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28., American journal of human genetics , 48-I(3), 1991, pp. 481-485

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