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Results : 51-75/195

Perinatal lethal osteogenesis imperfecta (Ol Type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

Authors: Byers, Peter H. Tsipouras, Petros Bonadio, Jeffrey F. Starman, Barbra J. Schwart, Robin C.

Journal: American journal of human genetics

Citation: H. Byers, Peter et al., Perinatal lethal osteogenesis imperfecta (Ol Type II): A biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen, American journal of human genetics , 42(2), 1988, pp. 237-248

Causes of death to age 30 in down syndrome

Authors: Baird, Patricia A. Sadovnick, Adele D.

Journal: American journal of human genetics

Citation: A. Baird, Patricia et D. Sadovnick, Adele, Causes of death to age 30 in down syndrome, American journal of human genetics , 43-I(3), 1988, pp. 239-248

Mapping of alport syndrome to the long arm of the X chromosome

Authors: Atkin, Curtis L. Hasstedt, Sandra J. Menlove, Lynelle Cannon, Lisa Kirschner, Nancy Schwartz, Charles Nguyen, Kim Skolnick, Mark

Journal: American journal of human genetics

Citation: L. Atkin, Curtis et al., Mapping of alport syndrome to the long arm of the X chromosome, American journal of human genetics , 42(2), 1988, pp. 249-255

A new hypervariable marker for the human alpha-globin gene cluster

Authors: Jarman, A. P. Higgs, D. R.

Journal: American journal of human genetics

Citation: P. Jarman, A. et R. Higgs, D., A new hypervariable marker for the human alpha-globin gene cluster, American journal of human genetics , 43-I(3), 1988, pp. 249-256

Detection of major genes for susceptibility to leprosy and its subtypes in a caribbean island: desirade island

Authors: Abel, Laurent Demenais, Florence

Journal: American journal of human genetics

Citation: Abel, Laurent et Demenais, Florence, Detection of major genes for susceptibility to leprosy and its subtypes in a caribbean island: desirade island, American journal of human genetics , 42(2), 1988, pp. 256-266

Higher risk of seizures in offspring of mothers than of fathers with epilepsy

Authors: Ottman, Ruth Annegers, John F. Hauser, W. Allen Kurland, Leonard T.

Journal: American journal of human genetics

Citation: Ottman, Ruth et al., Higher risk of seizures in offspring of mothers than of fathers with epilepsy, American journal of human genetics , 43-I(3), 1988, pp. 257-264

Chromosome breakage and recombination at fragile sites

Authors: Glover, Thomas W. Stein, Constance K.

Journal: American journal of human genetics

Citation: W. Glover, Thomas et K. Stein, Constance, Chromosome breakage and recombination at fragile sites, American journal of human genetics , 43-I(3), 1988, pp. 265-273

A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-mendelian inheritance

Authors: Starr, Terence Wood, Stephen

Journal: American journal of human genetics

Citation: Starr, Terence et Wood, Stephen, A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-mendelian inheritance, American journal of human genetics , 42(2), 1988, pp. 267-270

Selection in favor of lysosomal storage disorders?

Authors: Zlotogora, Joel Zeigler, Marcia Bach, Gideon

Journal: American journal of human genetics

Citation: Zlotogora, Joel et al., Selection in favor of lysosomal storage disorders?, American journal of human genetics , 42(2), 1988, pp. 271-273

Assessment of aneuploidy in the human female by using cytogenetics of IVF failures

Authors: Pellestor, F. Sèle, B.

Journal: American journal of human genetics

Citation: F. Pellestor, et B. Sèle,, Assessment of aneuploidy in the human female by using cytogenetics of IVF failures, American journal of human genetics , 42(2), 1988, pp. 274-283

Maternal duplication associated with gene deletion in sporadic hemophilia

Authors: Gitschier, Jane

Journal: American journal of human genetics

Citation: Gitschier, Jane, Maternal duplication associated with gene deletion in sporadic hemophilia, American journal of human genetics , 43-I(3), 1988, pp. 274-279

The gene CYP3 encoding P450PCNI (nifedipine oxidase) is tightly linked to the gene COLIA2 encoding collagen type I alpha on 7q21.3-q22.I

Authors: Brooks, Parbara A. McBride, O. Wesley Colin T. Dolphin, Farrall, Martin Scambler, Peter J. Gonzalez, Frank J. Idle, Jeffrey R.

Journal: American journal of human genetics

Citation: A. Brooks, Parbara et al., The gene CYP3 encoding P450PCNI (nifedipine oxidase) is tightly linked to the gene COLIA2 encoding collagen type I alpha on 7q21.3-q22.I, American journal of human genetics , 43-I(3), 1988, pp. 280-284

Penetrance of von recklinghausen neurofibromatosis: A distinction between predecessors and descendants

Authors: Ricardi, Vincent M. Lewis, Richard A.

Journal: American journal of human genetics

Citation: M. Ricardi, Vincent et A. Lewis, Richard, Penetrance of von recklinghausen neurofibromatosis: A distinction between predecessors and descendants, American journal of human genetics , 42(2), 1988, pp. 284-289

Cytogenetic studies in dupuytren contracture

Authors: Wurster-Hill, D. H. Brown, F. Park, J. P. Gibson, S. H.

Journal: American journal of human genetics

Citation: H. Wurster-hill, D. et al., Cytogenetic studies in dupuytren contracture, American journal of human genetics , 43-I(3), 1988, pp. 285-292

A Genetic study of gardner syndrome and congenital hypertrophy of the retinal pigment epichelium

Authors: Lyons, L A, Lewis, R. A. Strong, L C. Zuckerbrod, S. Ferrell, R. E.

Journal: American journal of human genetics

Citation: Lyons, L A, et al., A Genetic study of gardner syndrome and congenital hypertrophy of the retinal pigment epichelium, American journal of human genetics , 42(2), 1988, pp. 290-296

Primary cultures of renal epithelial cells from X-linked hypophosphatemic (hyp) mice express defects in phosphate transport and vitamin D metabolism

Authors: Bell, Cindy L. Tenenhouse, Harriet S. Scriver, Charles R.

Journal: American journal of human genetics

Citation: L. Bell, Cindy et al., Primary cultures of renal epithelial cells from X-linked hypophosphatemic (hyp) mice express defects in phosphate transport and vitamin D metabolism, American journal of human genetics , 43-I(3), 1988, pp. 293-303

A linkage and physical map of chromosome 22, and some applications to gene mapping

Authors: Julier, Cécile Lachrop, G. Mark Reghis, Abderrezak Szajnert, Marie-France Lalouel, jean-Marc Kaplan, Jean-Claude

Journal: American journal of human genetics

Citation: Julier, Cécile et al., A linkage and physical map of chromosome 22, and some applications to gene mapping, American journal of human genetics , 42(2), 1988, pp. 297-308

Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies

Authors: Aston, C. E. S. L. Sherman, Morton, N. E. Speiser, P. W. New, M. I.

Journal: American journal of human genetics

Citation: E. Aston, C. et al., Genetic mapping of the 21-hydroxylase locus: estimation of small recombination frequencies, American journal of human genetics , 43-I(3), 1988, pp. 304-310

The genes coding for human pro alpha1(IV) collagen and pro alpha2(IV) collagen are both located at the end of the long arm of chromosome 13

Authors: Boyd, Charles D. Toth-Fejel, SuEllen Gadi, Inder K. Litt, Michael Condon, Michael R. Kolbe, Margret Hagen, I. Kathleen Kurkinen, Markku Mackenzie, James W. Magenis, Ellen

Journal: American journal of human genetics

Citation: D. Boyd, Charles et al., The genes coding for human pro alpha1(IV) collagen and pro alpha2(IV) collagen are both located at the end of the long arm of chromosome 13, American journal of human genetics , 42(2), 1988, pp. 309-314

Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic

Authors: Pairitz, Gail Davignon, Jean Mailloux, Helene Sing, Charles F.

Journal: American journal of human genetics

Citation: Pairitz, Gail et al., Sources of interindividual variation in the quantitative levels of apolipoprotein B in pedigrees ascertained through a lipid clinic, American journal of human genetics , 43-I(3), 1988, pp. 311-321

The affected-pedigree-member method of linkage analysis

Authors: Weeks, Daniel E. Lange, Kenneth

Journal: American journal of human genetics

Citation: E. Weeks, Daniel et Lange, Kenneth, The affected-pedigree-member method of linkage analysis, American journal of human genetics , 42(2), 1988, pp. 315-326

Characterization of the gene and protein of the common alpha I-antitrypsin normal M2 allele

Authors: Nukiwa, Toshihiro Brantly, Mark L. Ogushi, Fumitaka Fells, Gerald A. Crystal, Ronald G.

Journal: American journal of human genetics

Citation: Nukiwa, Toshihiro et al., Characterization of the gene and protein of the common alpha I-antitrypsin normal M2 allele, American journal of human genetics , 43-I(3), 1988, pp. 322-330

Chromosomal localization of the human proenkephalin and prodynorphin genes

Authors: Litt, M. Buroker, N. E. Kondoleon, S. Douglass, J. Liston, D. Sheehy, R. Magenis, R. E.

Journal: American journal of human genetics

Citation: M. Litt, et al., Chromosomal localization of the human proenkephalin and prodynorphin genes, American journal of human genetics , 42(2), 1988, pp. 327-334

5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia

Authors: Sutherland, Grant R. Baker, Elizabeth Callen, David F. Hyland, Valentine J. May, Brian K. Bawden, Michael J. Healy, Helen M. Borthwick, lain A.

Journal: American journal of human genetics

Citation: R. Sutherland, Grant et al., 5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia, American journal of human genetics , 43-I(3), 1988, pp. 331-335

Isolation of DNA markers in the direction of the huntington disease gene from the G8 Locus

Authors: Smith, Barbara Skarecky, Douglas Bengtsson, Ulla Magenis, R. Ellen Carpenter, Nancy Wasmuth, John J.

Journal: American journal of human genetics

Citation: Smith, Barbara et al., Isolation of DNA markers in the direction of the huntington disease gene from the G8 Locus, American journal of human genetics , 42(2), 1988, pp. 335-344

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