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Results:
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Results: 20
Authors:
Ledbetter, David H.
Rich, Donna C.
O'Connell, Peter
Leppert, Mark
Carey, John C.
Citation: H. Ledbetter, David et al., Precise localization of NFI to 17q11.2 by balanced translocation, American journal of human genetics , 44(1), 1989, pp. 20-24
Authors:
Fountain, Jane W.
Wallace, Margaret R.
Brereton, Anne M.
O'Connell, Peter
White, Raymond L.
Rich, Donna C.
Ledbetter, David H.
Leach, Robin J.
Fournier, R. E. Keith
Menon, Anil G.
Gusella, James F.
Barker, David
Stephens, Karen
Collins, Francis S.
Citation: W. Fountain, Jane et al., Physical mapping of the von recklinghausen neurofibromatosis region on chromosome 17, American journal of human genetics , 44(1), 1989, pp. 58-67
Authors:
Ledbetter, Susan A.
Kuwano, Akira
Dobyns, William B.
Ledbetter, David H.
Citation: A. Ledbetter, Susan et al., Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly., American journal of human genetics , 50-I(1), 1992, pp. 182-189
Authors:
Spence, Edward
Perciaccante, Ronald G.
Greig, Gillian M.
Willard, Huntington F.
Ledbetter, David H.
Heitmancik, J. Fielding
Pollack, Marilyn S.
O'Brien, William E.
Beaudet, Arthur L.
Citation: Spence, Edward et al., Uniparental disomy as a mechanism for human genetic disease, American journal of human genetics , 42(2), 1988, pp. 217-226
Authors:
Schnur, Rhonda E
Ledbetter, Susan A.
Ledbetter, David H.
Merry, Diane E.
Nussbaum, Robert L.
Citation: E. Schnur, Rhonda et al., New polymorphisms at the dxs98 locus and confirmation of its location proximal to fraxa by in situ hybridization, American journal of human genetics , 44(2), 1989, pp. 248-254
Authors:
Trent, Jeffrey M.
Flink, Irwin L.
Morkin, Eugene
Tuinen, Peter van
Ledbetter, David H.
Citation: M. Trent, Jeffrey et al., Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22), American journal of human genetics , 41-I(3), 1987, pp. 428-435
Authors:
Kwiatkowski, David J.
Aklog, Lishan
Ledbetter, David H.
Morton, Cynthia C.
Citation: J. Kwiatkowski, David et al., Identification of the functional profilin gene, its localization to chromosome subband17p13.3, and demonstration of its deletion in some patients with miller-dieker syndrome, American journal of human genetics , 46-I(3), 1990, pp. 559-567
Authors:
Dobyns, William B.
Curry, Cynthia J.R.
Hoyme, Eugene
Turlington, Laura
Ledbetter, David H.
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
Authors:
Tuinen, Peter van
Dobyns, William B.
Rich, Donna C.
Summers, Kim M.
Robinson, Terence J.
Nakamura, Y.
Ledbetter, David H.
Citation: Tuinen, Peter Van et al., Molecular detection of microscopic and submicroscopic deletions associated with miller-dieker syndrome, American journal of human genetics , 43-II(5), 1988, pp. 587-596
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Authors:
Moreno-De-Luca, Daniel
Consortium, SGENE
Mulle, , Jennifer G.
Simplex Collection Genetics Consortium,Simons
Ledbetter, David H.
Citation: Moreno-de-luca, Daniel et al., Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia, American journal of human genetics (Online) AJHG , 87(5), 2010, pp. 618-630
Authors:
Pentao, Liu
Lewis, Richard Alan
Ledbetter, David H.
Patel, Pragna I.
Lupski, James R.
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:
Ledbetter, Susan A.
Ledbetter, David H.
Citation: A. Ledbetter, Susan et H. Ledbetter, David, A common fragile site at Xq27: theoretical and practical implications, American journal of human genetics , 42(5), 1988, pp. 694-702
Authors:
Kuwano, Akira
Ledbetter, Susan A.
Dobyns, William B.
Emanuel, Beverly S.
Ledbetter, David H.
Citation: Kuwano, Akira et al., Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization., American journal of human genetics , 49-II(4), 1991, pp. 707-714
Authors:
Reilly, Dorothy Silver
Lewis, Richard Alan
Ledbetter, David H.
Nussbaum, Robert L.
Citation: Reilly, Dorothy Silver et al., Tightly linked flanking markers for the lowe oculocerebrorenal syndrome, with application to carrier assessment, American journal of human genetics , 42(5), 1988, pp. 748-755
Authors:
Patel, Pragna I.
Franco, Brunella
Garcia, Carlos
Slaugenhaupt, Susan A.
Nakamura, Yusuke
Ledbetter, David H.
Chakravarti, Aravinda
Lupski, James R.
Citation: I. Patel, Pragna et al., Genetic mapping of autosomal dominant charcot-marie-tooth disease in a large french-acadian kindred; identification of new linked markers on chromosome 17, American journal of human genetics , 46-II(4), 1990, pp. 801-809
Authors:
Ledley, Fred D.
Lumetta, Michele R.
Zoghbi, Huda Y.
Tuinen, Peter van
Ledbetter, Susan A.
Ledbetter, David H.
Citation: D. Ledley, Fred et al., Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6, American journal of human genetics , 42(6), 1988, pp. 839-846
Authors:
Cardoso, Carlos
Leventer, Richard J.
Ward, Heather L.
Toyo-oka, Kazuhito
Chung, June
Gross, Alyssa
Martin, Christa L.
Allanson, Judith
Pilz, Daniela T.
Olney, Ann H.
Mutchinick, Osvaldo M.
Hirotsune, Shinji
Wynshaw-Boris, Anthony
Dobyns, William B.
Ledbetter, David H.
Citation: Cardoso, Carlos et al., Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3, American journal of human genetics , 72(4), 2003, pp. 918-930
Authors:
Schaeffer, Anthony J.
Chung, June
Heretis, Konstantina
Wong, Andrew
Ledbetter, David H.
Lese Martin. Christa
Citation: J. Schaeffer, Anthony et al., Comparative Genomic Hybridization.Array Analysis Enhances the Detection of Aneuploidies and Submicroscopic Imbalances in Spontaneous Miscarriages, American journal of human genetics , 74(6), 2004, pp. 1168-1174
Authors:
Altherr, Michael R.
Bengtsson, Ulla
Elder, Fred F. B.
Ledbetter, David H.
Wasmuth, John J
McDonald, Marcy E.
Gusella, James F.
Greenberg, Frank
Citation: R. Altherr, Michael et al., Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4., American journal of human genetics , 49-II(5), 1991, pp. 1235-1242
Authors:
Huang, Tim H-M.
Hejtmancik, J. Fielding
Edwards, Al
Pettigrew, Anjana L.
Herrera, Carlos A.
Hammond, Holly A.
Caskey, C. Thomas
Zoghbi, Huda Y.
Ledbetter, David H.
Citation: Huang, Tim H-m et al., Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26)., American journal of human genetics , 49-II(5), 1991, pp. 1312-1319
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