ITA
ENG

Results: 1-25 | 26-50 | 51-75 | 76-100 | >>

Articles table of contents

Results : 76-100/195

Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling

Authors: Bieber, Frederick R. Hoffman, Eric P. Amos, Jean A.

Journal: American journal of human genetics

Citation: R. Bieber, Frederick et al., Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling, American journal of human genetics , 45-I(3), 1989, pp. 362-367

Characterization of mutations in gaucher patients by cDNA cloning

Authors: Wigderson, Meir Firon, Nurit Horowitz, Zeev Wilder, Sylvia Frishberg, Yaakov Reiner, Orly Horowitz, Mia

Journal: American journal of human genetics

Citation: Wigderson, Meir et al., Characterization of mutations in gaucher patients by cDNA cloning, American journal of human genetics , 44(3), 1989, pp. 365-377

Hot spot of recombination within DXSI64 in the duchenne muscular dystrophy gene

Authors: T. Grimm, and B. Müller, M. Dreier, E. Kind, T. Bettecken, G. Meng, C. R. Müller

Journal: American journal of human genetics

Citation: T. Grimm, And et al., Hot spot of recombination within DXSI64 in the duchenne muscular dystrophy gene, American journal of human genetics , 45-I(3), 1989, pp. 368-372

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Authors: Voss, Ruth Ben-Simon, Elena Avital, Avraham Godfrey, Simon Zlotogora, Joel Dagan, Judith Tikochinski, Yaron Hillel, Jossi

Journal: American journal of human genetics

Citation: Voss, Ruth et al., Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?, American journal of human genetics , 45-I(3), 1989, pp. 373-380

Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type iv glycogen storage disease

Authors: Brown, Barbara I. Brown, David H.

Journal: American journal of human genetics

Citation: I. Brown, Barbara et H. Brown, David, Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type iv glycogen storage disease, American journal of human genetics , 44(3), 1989, pp. 378-381

Localization of the genes for mistatins to human Chromosome 4q13 and tissue distribution of the mRNAs

Authors: vanderSpek, Johanna C Wyandt, Herman E. Skare, James G. Milunsky, Aubrey Oppenheim, Frank G. Troxler, Robert F.

Journal: American journal of human genetics

Citation: C. Vanderspek, Johanna et al., Localization of the genes for mistatins to human Chromosome 4q13 and tissue distribution of the mRNAs, American journal of human genetics , 45-I(3), 1989, pp. 381-387

Phenylalanine hydroxylase gene haplotypes in polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria

Authors: Hertzberg, M. Jahromi, K. Ferguson, V. Dahl, H. H. M. Mercer, J. Mickleson, K. N. P. Trent, R. J.

Journal: American journal of human genetics

Citation: M. Hertzberg, et al., Phenylalanine hydroxylase gene haplotypes in polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria, American journal of human genetics , 44(3), 1989, pp. 382-387

Abundant class of human dna polymorphisms which can be typed using the polymerase chain reaction

Authors: Weber, James L. May, Paula E.

Journal: American journal of human genetics

Citation: L. Weber, James et E. May, Paula, Abundant class of human dna polymorphisms which can be typed using the polymerase chain reaction, American journal of human genetics , 44(3), 1989, pp. 388-396

Comparing observed average numbers of affected sibs with those expected under geometric ascertainment bias in an extended range in both simplex and multiplex sibships

Authors: Sit, K. H.

Journal: American journal of human genetics

Citation: H. Sit, K., Comparing observed average numbers of affected sibs with those expected under geometric ascertainment bias in an extended range in both simplex and multiplex sibships, American journal of human genetics , 45-I(3), 1989, pp. 388-400

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene

Authors: Litt, Michael Luty, Jeffrey A.

Journal: American journal of human genetics

Citation: Litt, Michael et A. Luty, Jeffrey, A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene, American journal of human genetics , 44(3), 1989, pp. 397-401

Linkage heterogeneity between X-linked retinitis pigmentosa and a map of I0 RFLP loci

Authors: Chen, Jia-de Halliday, Francis Keith, Gregory Sheffield, Leslie Dickinson, Pamela Gray, Roger Constable, lan Denton, Michael

Journal: American journal of human genetics

Citation: Chen, Jia-de et al., Linkage heterogeneity between X-linked retinitis pigmentosa and a map of I0 RFLP loci, American journal of human genetics , 45-I(3), 1989, pp. 401-411

Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia

Authors: Bigbee, William L. Langlois, Richard G. Swift, Michael Jensen, Ronald H.

Journal: American journal of human genetics

Citation: L. Bigbee, William et al., Evidence for an elevated frequency of in vivo somatic cell mutations in ataxia telangiectasia, American journal of human genetics , 44(3), 1989, pp. 402-408

Polymorphic DNA haplotypes at the LDL receptor locus

Authors: Leitersdorf, Eran Chakravarti, Aravinda Hobbs, Helen H.

Journal: American journal of human genetics

Citation: Leitersdorf, Eran et al., Polymorphic DNA haplotypes at the LDL receptor locus, American journal of human genetics , 44(3), 1989, pp. 409-421

Strategies and sample-size considerations for mapping a two-locus autosomal recessive disorder

Authors: Partha P. Majumder

Journal: American journal of human genetics

Citation: Partha P. Majumder, Strategies and sample-size considerations for mapping a two-locus autosomal recessive disorder, American journal of human genetics , 45-I(3), 1989, pp. 412-423

Evidence from family studies that the gene causing huntington disease is telomeric to D4S95 and D4S90

Authors: Robbins, Carolyn Theilmann, Jane Youngman, Sandra Haines, Jonathan Altherr, Michael J. Harper, Peter S. Payne, Cynthia Junker, Ann Wasmuth, John Hayden, Michael R.

Journal: American journal of human genetics

Citation: Robbins, Carolyn et al., Evidence from family studies that the gene causing huntington disease is telomeric to D4S95 and D4S90, American journal of human genetics , 44(3), 1989, pp. 422-425

Norrie disease gene Is distinct from the monoamine oxidase genes

Authors: Sims, Katherine B. Ozelius, Laurie Corey, Timothy Rinehart, William B. Liberfarb, Ruth Haines, Jonathan Chen, Wei lane Norio, Reijo Sankila, Eeva de la Chapelle, Albert Murphy, Dennis L. Gusella, James Breakefield, Xandra O.

Journal: American journal of human genetics

Citation: B. Sims, Katherine et al., Norrie disease gene Is distinct from the monoamine oxidase genes, American journal of human genetics , 45-I(3), 1989, pp. 424-434

Kml allotype association with one subgroup of alopecia areata

Authors: Galbraith, Gillian M. P. Pandey, Janardan P.

Journal: American journal of human genetics

Citation: P. Galbraith, Gillian M. et P. Pandey, Janardan, Kml allotype association with one subgroup of alopecia areata, American journal of human genetics , 44(3), 1989, pp. 426-428

Heritability of bone mass: a longitudinal study in aging male twins

Authors: Christian, loe C. Yu, Pao-Lo Slemenda, Charles W. Johnston, C. Conrad jr.,

Journal: American journal of human genetics

Citation: C. Christian, Loe et al., Heritability of bone mass: a longitudinal study in aging male twins, American journal of human genetics , 44(3), 1989, pp. 429-433

Pelizaeus-merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

Authors: Gencic, Simonida Abuelo, Dianne Ambler, Mary Hudson, Lynn D.

Journal: American journal of human genetics

Citation: Gencic, Simonida et al., Pelizaeus-merzbacher disease: An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein, American journal of human genetics , 45-I(3), 1989, pp. 435-442

Identification of two cosmids derived from within chromosomal band 3p21.1 that contain clusters of rare restriction sites and evolutionarily conserved sequences

Authors: Smith, David I. Golembieski, William Drabkin, Harry Kiousis, Sam

Journal: American journal of human genetics

Citation: I. Smith, David et al., Identification of two cosmids derived from within chromosomal band 3p21.1 that contain clusters of rare restriction sites and evolutionarily conserved sequences, American journal of human genetics , 45-I(3), 1989, pp. 443-447

Functionally important regions of the factor 1X gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG

Authors: Koeberl, Dwight D. Bottema, Cynchia D. K. Buerstedde, Jean-Marie Sommer, Steve S.

Journal: American journal of human genetics

Citation: D. Koeberl, Dwight et al., Functionally important regions of the factor 1X gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG, American journal of human genetics , 45-I(3), 1989, pp. 448-457

High-resolution analysis of a hypervariable region in the human apolipoprotein B gene

Authors: Ludwig, Erwin H. Friedl, Walter McCarthy, Brian J.

Journal: American journal of human genetics

Citation: H. Ludwig, Erwin et al., High-resolution analysis of a hypervariable region in the human apolipoprotein B gene, American journal of human genetics , 45-I(3), 1989, pp. 458-464

Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers

Authors: Pellestor, F. Sèle, B. Jalbert, H. Jalbert, P.

Journal: American journal of human genetics

Citation: F. Pellestor, et al., Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers, American journal of human genetics , 44(4), 1989, pp. 464-473

Segregation of genetic hemochromatosis indexed by latent capacity of transferrin

Authors: Borecki, I. B. Rao, D. C. Yaouanq, J. Lalouel, J. M.

Journal: American journal of human genetics

Citation: B. Borecki, I. et al., Segregation of genetic hemochromatosis indexed by latent capacity of transferrin, American journal of human genetics , 45-I(3), 1989, pp. 465-470

Human chromosome 15 confers partial complementation of phenotypes to xeroderma pigmentosum group F cells

Authors: Saxon, Paul J. Schultz, Roger A. Stanbridge, Eric J. Friedberg, Errol C.

Journal: American journal of human genetics

Citation: J. Saxon, Paul et al., Human chromosome 15 confers partial complementation of phenotypes to xeroderma pigmentosum group F cells, American journal of human genetics , 44(4), 1989, pp. 474-485

Results: 1-25 | 26-50 | 51-75 | 76-100 | >>