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Results:
1-9
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Results: 9
Authors:
Stoetzel, Corinne
Muller, Jean
Laurier, Virginie
Davis, Erica E.
Zaghloul, Norann A
Vicaire, Serge
Jacquelin, Cécile
Plewniak, Frédéric
Leitch, Carmen C.
Sarda, Pierre
Hamel, Christian
De Ravel, Thomy J.L.
Lewis, Richard Alan
Friederich, Evelyne
Thibault, Christelle
Danse, Jean-Marc
Verloes, Alain
Bonneau, Dominique
Katsanis, Nicholas
Poch, Olivier
Dollfus, Hélène
Citation: Stoetzel, Corinne et al., Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome, American journal of human genetics , 80(1), 2007, pp. 1-11
Authors:
Stambolian, Dwight
Lewis, Richard Alan
Buetow, kenneth
Bond, Anna
Nussbaum, Robert
Citation: Stambolian, Dwight et al., Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis, American journal of human genetics , 47-I(1), 1990, pp. 13-19
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:
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:
Li, Anren
Jiao, Xiaodong
Munier, Francis L.
Schorderet, Daniel F.
Yao, Wenliang
Iwata, Fumino
Hayakawa, Mutsuko
Kanai, Atsushi
Chen, Muh Shy
Lewis, Richard Alan
Heckenlively, John
Weleber, Richard G.
Traboulsi, Elias I.
Zhang, Qingjiong
Xiao, Xueshan
Kaiser-Kupfer, Muriel
Sergeev, Yuri V.
Fielding Hejtmancik, J.
Citation: Li, Anren et al., Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2, American journal of human genetics , 74(5), 2004, pp. 817-826
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
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1-9
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