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Results:
1-15
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Results: 15
Authors:
Barbouti, Aikaterini
Stankiewicz, Pawel
Nusbaum, Chad
Cuomo, Christina
Cook, April
Höglund, Mattias
Johansson, Bertil
Hagemeijer, Anne
Park, Sung-Sup
Mitelman, Felix
Lupski, James R.
Fioretos, Thoas
Citation: Barbouti, Aikaterini et al., The Breakpoint Region of the Most Common Isochromosome, i(17q), in Human Neoplasia Is Characterized by a Complex Genomic Architecture with Large, Palindromic, Low-Copy Repeats, American journal of human genetics , 74(1), 2004, pp. 1-10
Authors:
Katsanis, Nicholas
Eichers, Erica R.
Ansley, Stephan J.
Lewis, Richard Alan
Kayserili, Hülya
Hoskins, Bethan E.
Scambler, Peter J.
Beales, Philip L.
Lupski, James R.
Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29
Authors:
Potocki, Lorraine
Bi, Weimin
Treadwell-Deering, Diane
Carvalho, Claudia M.B.
Eifert, Anna
Friedman, Ellen M.
Glaze, Daniel
Krull, Kevin
Lee, Jennifer A.
Lewis, Richard Alan
Mendoza-Londono, Roberto
Robbins-Furman, Patricia
Shaw, Chad
Shi, Xin
Weissenberger, George
Withers, Marjorie
Yatsenko, Svetlana A.
Zackai, Elaine H.
Stankiewicz, Pawel
Lupski, James R.
Citation: Potocki, Lorraine et al., Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype, American journal of human genetics , 80(4), 2007, pp. 633-649
Authors:
Badano, José L:
Ansley, Stephen J.
Leitch, Carmen C.
Lewis, Richard Alan
Lupski, James R.
Katsanis, Nicholas
Citation: Badano, José L: et al., Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2, American journal of human genetics , 72(3), 2003, pp. 650-658
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:
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:
Inoue, Ken
Osaka, Hitoshi
Thurston, Virginia C.
Clarke, Joe T.R.
Yoneyama, Akira
Rosenbarker, Lisa
Bird, Thomas D.
Hodes, M.E.
Shaffer, Lisa G.
Lupski, James R.
Citation: Inoue, Ken et al., Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females, American journal of human genetics , 71(4), 2002, pp. 838-853
Authors:
Khajavi, Mehrdad
Inoue, Ken
Wiszniewski, Wojciech
Ohyama, Tomoko
Snipes, Jackson G.
Lupski, James R.
Citation: Khajavi, Mehrdad et al., Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein Zero.Truncating Mutants, American journal of human genetics , 77(5), 2005, pp. 841-850
Authors:
Lindsay, Sarah J.
Khajavi, Mehrdad
Lupski, James R.
Hurles, Matthew E.
Citation: J. Lindsay, Sarah et al., A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic Recombination, American journal of human genetics , 79(5), 2006, pp. 890-902
Authors:
Patel, Pragna I.
Garcia, Carlos
Montes de Oca-Luna, Roberto
Malamut, Richard I.
Franco, Brunella
Slaugenhaupt, Susan
Chakravarti, Aravinda
Lupski, James R.
Citation: I. Patel, Pragna et al., Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids., American journal of human genetics , 47-II(6), 1990, pp. 926-934
Authors:
Shaw, Christine J.
Bi, Weimin
Lupski, James R.
Citation: J. Shaw, Christine et al., Genetic Proof of Unequal Meiotic Crossovers in Reciprocal Deletion and Duplication of 17p11.2, American journal of human genetics , 71(5), 2002, pp. 1072-1081
Authors:
Stankiewicz, Pawe.
Shaw, Christine J.
Dapper, Jason D.
Wakui, Keiko
Shaffer, Lisa G.
Withers, Marjorie
Elizondo, Leah
Park, Sung-Sup
Lupski, James R.
Citation: Stankiewicz, Pawe et al., Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements, American journal of human genetics , 72(5), 2003, pp. 1101-1116
Authors:
Baeles, Philip L.
Badano, Jose L.
Ross, Allison J.
Ansley, Stephhen J.
Hoskis, Bethan E.
Kirsten, Brigitta
Mein, Charles A.
Froguel, Philippe
Scambler, Peter J.
Lewis, Richard Alan
Lupski, James R.
Katsanis, Nicholas
Citation: L. Baeles, Philip et al., Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome, American journal of human genetics , 72(5), 2003, pp. 1187-1199
Authors:
Greenberg, Frank
Guzzetta, Vito
de Oca-Luna, Roberto Montes
Magenis, R. Ellen
Smith, A. C. M.
Richter, Sarah F.
Kondo, Ikuko
Dobyns, William B.
Patel, Pragna I.
Lupski, James R.
Citation: Greenberg, Frank et al., Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)., American journal of human genetics , 49-II(5), 1991, pp. 1207-1218
Authors:
Bi, Weimin
Park, Sung-Sup
Shaw, Christine J.
Withers, Marjorie A.
Patel, Pragna I.
Lupski, James R.
Citation: Bi, Weimin et al., Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2, American journal of human genetics , 73(6), 2003, pp. 1302-1315
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