Results : 51-75/138
Authors:
Weitz, Charles J.
Miyake, Yozo
Shinzato, Kenji
Montag, Ethan
Zrenner, Eberhart
Went, L. N.
Nathans, Jeremy
Journal: American journal of human genetics
Citation: J. Weitz, Charles et al., Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin., American journal of human genetics , 50-I(3), 1992, pp. 498-507
Authors:
Helliwell, T. R.
Ellis, J. M.
Mountford, R. C.
Appleton, R. E
Morris, G. E.
Journal: American journal of human genetics
Citation: R. Helliwell, T. et al., A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane., American journal of human genetics , 50-I(3), 1992, pp. 508-514
Authors:
Mérette, Chantal
King, Mary-Claire
Ott, Jurg
Journal: American journal of human genetics
Citation: Mérette, Chantal et al., Heterogeneity analysis of breast cancer families by using age at onset as a covariate., American journal of human genetics , 50-I(3), 1992, pp. 515-519
Authors:
Morrison, K. E.
Daniels, R. J.
Suthers, G. K.
Flynn, G. A.
Francis, M. J.
Buckle, V. J.
Davies, K. E.
Journal: American journal of human genetics
Citation: E. Morrison, K. et al., High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5., American journal of human genetics , 50-I(3), 1992, pp. 520-527
Authors:
Farrer, Lindsay A.
Cupples, L. Adrienne
Kiely, Dan K.
Conneally, Michael
Myers, Richard H.
Journal: American journal of human genetics
Citation: A. Farrer, Lindsay et al., Inverse relationship between age at onset of Huntington disease and paternal age suggests involvement of genetic imprinting., American journal of human genetics , 50-I(3), 1992, pp. 528-535
Authors:
Ridley, Rosalind M
Farrer, Lindsay A.
Frith, Chris D.
Conneally, P. Michael
Journal: American journal of human genetics
Citation: M. Ridley, Rosalind et al., A test of the hypothesis that age at onset in Huntington disease is controlled by an X-linked recessive modifier., American journal of human genetics , 50-I(3), 1992, pp. 536-543
Authors:
Antonarakis, Stylianos E.
Petersen, Michael B.
McInnis, Melvin G.
Adelsberger, Patricia A.
Schinzel, Albert A.
Binkert, Franz
Pangalos, Constantine
Raoul, Odile
Slaugenhaupt, Susan A.
Hafez, Mohamed
Cohen, Maimon M.
Roulson, Diane
Schwartz, Stuart
Mikkelsen, Margareta
Tranebjaerg, Lisbeth
Greenberg, Frank
Hoar, David I.
Rudd, Noreen L.
Warren, Andrew C.
Metaxotou, Caterina
Bartsocas, Christos
Chakravarti, Aravinda
Journal: American journal of human genetics
Citation: E. Antonarakis, Stylianos et al., The meiotic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms, American journal of human genetics , 50-I(3), 1992, pp. 544-550
Authors:
Tanzi, Rudolph E.
Watkins, Paul C.
Stewart, Gordon D.
Wexler, Nancy S.
Gusella, James F.
Haines, Jonathan L.
Journal: American journal of human genetics
Citation: E. Tanzi, Rudolph et al., A genetic linkage map of human chromosome 21: analysis of recombination as a function of sex and age., American journal of human genetics , 50-I(3), 1992, pp. 551-558
Authors:
Sirugo, G.
Keats, B.
Fujita, R.
Duclos, F.
Purohit, K.
Koenig, M.
Mandel, J. L.
Journal: American journal of human genetics
Citation: G. Sirugo, et al., Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes., American journal of human genetics , 50-I(3), 1992, pp. 559-566
Authors:
Sheffield, Val C.
Beck, John S.
Nichols, Brian
Cousineau, Anthony
Lidral, Andrew C.
Stone, Edwin M.
Journal: American journal of human genetics
Citation: C. Sheffield, Val et al., Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis., American journal of human genetics , 50-I(3), 1992, pp. 567-575
Authors:
Laing, N. G.
Majda, B. T.
Akkari, P. A.
Layton, M. G.
Mulley, J. C.
Phillips, H.
Haan, E. A.
White, S. J.
Beggs, A. H.
Kunkel, L. M.
Groth, D. M.
Boundy, K. L.
Kneebone, C. S.
Blumberg, P. C.
Wilton, S. D.
Speer, M. C.
Kakulas, B. A.
Journal: American journal of human genetics
Citation: G. Laing, N. et al., Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1, American journal of human genetics , 50-I(3), 1992, pp. 576-583
Authors:
Cogen, Philip H.
Daneshvar, Laleh
Metzger, Andrew K.
Duyk, Geoffrey
Edwards, Michael S. B.
Sheffield, Val C.
Journal: American journal of human genetics
Citation: H. Cogen, Philip et al., Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis., American journal of human genetics , 50-I(3), 1992, pp. 584-589
Authors:
Inglehearn, Chris F.
Lester, Douglas H.
Bashir, Rumaisa
Atif, Uzma
Keen, T. Jeffrey
Sertedaki, Amalia
Lindsey, Janet
Jay, Marcelle
Bird, Alan C.
Farrar, G. Jane
Humphries, Peter
Bhattacharya, Shomi S.
Journal: American journal of human genetics
Citation: F. Inglehearn, Chris et al., Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families, American journal of human genetics , 50-I(3), 1992, pp. 590-597
Authors:
Goldgar, David E.
Oniki, Rebecca S.
Journal: American journal of human genetics
Citation: E. Goldgar, David et S. Oniki, Rebecca, Comparison of a multipoint identity-by-descent method with parametric multipoint linkage analysis for mapping quantitative traits., American journal of human genetics , 50-I(3), 1992, pp. 598-606
Authors:
Bowden, Donald W.
Akots, Gita
Rothschild, Cynthia B.
Falls, Kathleen F.
Sheehy, Michael J.
Hayward, Caroline
Mackie, Alisdair
Baird, Joyce
Brock, David
Antonarakis, Stylianos E.
Fajans, Stefan S.
Journal: American journal of human genetics
Citation: W. Bowden, Donald et al., Linkage analysis of maturity-onset diabetes of the young (MODY): Genetic heterogeneity and nonpenetrance, American journal of human genetics , 50-I(3), 1992, pp. 607-618
Authors:
Ozelius, Laurie J.
Kramer, Patricia L.
de Leon, Deborah
Risch, Neil
Bressman, Susan B.
Schuback, Deborah E.
Brin, Mitchell F.
Kwiatkowski, David J.
Burke, Robert E.
Gusella, James F.
Fahn, Stanley
Breakefield, Xandra O.
Journal: American journal of human genetics
Citation: J. Ozelius, Laurie et al., Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews, American journal of human genetics , 50-I(3), 1992, pp. 619-628
Authors:
Harding, A. E.
Holt, I. J.
Sweeney, M. G.
Brockington, M.
Davis, M. B.
Journal: American journal of human genetics
Citation: E. Harding, A. et al., Prenatal diagnosis of mitochondrial DNA8993 T----G disease., American journal of human genetics , 50-I(3), 1992, pp. 629-633
Authors:
Jordan, SiobhAn A.
Farrar, G. Jane
Kumar-Singh, Rajendra
Kenna, Paul
Humphries, Marian M.
Allamand, Valérie
Sharp, Elizabeth M.
Humphries, Peter
Journal: American journal of human genetics
Citation: A. Jordan, Siobhan et al., Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin., American journal of human genetics , 50-I(3), 1992, pp. 634-639
Authors:
Greenhaw, G. A.
Hebert, A.
Duke-Woodside, M. E.
Butler, I. J.
Hecht, J. T.
Cleaver, J. E.
Thomas, G. H.
Horton, W. A.
Journal: American journal of human genetics
Citation: A. Greenhaw, G. et al., Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes., American journal of human genetics , 50-II(4), 1992, pp. 677-689
Authors:
Pentao, Liu
Lewis, Richard Alan
Ledbetter, David H.
Patel, Pragna I.
Lupski, James R.
Journal: American journal of human genetics
Citation: Pentao, Liu et al., Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy., American journal of human genetics , 50-II(4), 1992, pp. 690-699
Authors:
Rosenberg, C.
Blakemore, K. J.
Kearns, W. G.
Giraldez, R. A.
Escallon, C. S.
Pearson, P. L.
Stetten, G.
Journal: American journal of human genetics
Citation: C. Rosenberg, et al., Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique., American journal of human genetics , 50-II(4), 1992, pp. 700-705
Authors:
Choo, K. H. Andy
Earle, Elizabeth
Vissel, Bryce
Kalitsis, Paul
Journal: American journal of human genetics
Citation: Choo, K. H. Andy et al., A chromosome 14-specific human satellite III DNA subfamily that shows variable presence on different chromosomes 14., American journal of human genetics , 50-II(4), 1992, pp. 706-716
Authors:
Earle, Elizabeth
Shaffer, Lisa G.
Kalitsis, Paul
McQuillan, Camille
Dale, Sue
Choo, K. H. Andy
Journal: American journal of human genetics
Citation: Earle, Elizabeth et al., Identification of DNA sequences flanking the breakpoint of human t(14q21q) Robertsonian translocations., American journal of human genetics , 50-II(4), 1992, pp. 717-724
Authors:
Giacalone, Joseph P.
Francke, Uta
Journal: American journal of human genetics
Citation: P. Giacalone, Joseph et Francke, Uta, Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion., American journal of human genetics , 50-II(4), 1992, pp. 725-741
Authors:
Puck, Jennifer M.
Stewart, Christine C.
Nussbaum, Robert L.
Journal: American journal of human genetics
Citation: M. Puck, Jennifer et al., Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency., American journal of human genetics , 50-II(4), 1992, pp. 742-748