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Journal Abstract Search

171 related items for PubMed ID: 8075632

  • 21.
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  • 22. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
    Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR.
    Science; 2001 Sep 21; 293(5538):2256-9. PubMed ID: 11567139
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  • 24. A gene for FG syndrome maps in the Xq12-q21.31 region.
    Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C.
    Am J Med Genet; 1997 Nov 28; 73(1):87-90. PubMed ID: 9375929
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  • 26. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
    Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H.
    Eur J Hum Genet; 2006 Nov 28; 14(11):1195-203. PubMed ID: 16823392
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  • 30. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.
    Stratakis CA, Lin JP, Pras E, Rennert OM, Bourdony CJ, Chan WY.
    Proc Assoc Am Physicians; 1997 Sep 28; 109(5):478-82. PubMed ID: 9285947
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  • 35. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
    Gorman SW, Haider NB, Grieshammer U, Swiderski RE, Kim E, Welch JW, Searby C, Leng S, Carmi R, Sheffield VC, Duhl DM.
    Genomics; 1999 Jul 15; 59(2):150-60. PubMed ID: 10409426
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  • 36.
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  • 38. X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family.
    Gendrot C, Ronce N, Raynaud M, Ayrault AD, Dourlens J, Castelnau P, Muh JP, Chelly J, Moraine C.
    Am J Med Genet; 1999 Apr 23; 83(5):411-8. PubMed ID: 10232754
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