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665 results

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Page 1
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: lathrop m. Am J Hum Genet. 2001 Nov;69(5):1002-12. doi: 10.1086/324121. Epub 2001 Oct 2. Am J Hum Genet. 2001. PMID: 11590543 Free PMC article.
Mutations in the gene encoding SLURP-1 in Mal de Meleda.
Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF. Fischer J, et al. Among authors: lathrop m. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253
A second-generation linkage map of the human genome.
Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M. Weissenbach J, et al. Among authors: lathrop m. Nature. 1992 Oct 29;359(6398):794-801. doi: 10.1038/359794a0. Nature. 1992. PMID: 1436057
The 1993-94 Généthon human genetic linkage map.
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. Gyapay G, et al. Among authors: lathrop m. Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246. Nat Genet. 1994. PMID: 7545953
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Among authors: lathrop m. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.
Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A. Monk S, et al. Among authors: lathrop m. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ. Andrew LJ, et al. Among authors: lathrop m. Am J Hum Genet. 1999 Jan;64(1):136-45. doi: 10.1086/302186. Am J Hum Genet. 1999. PMID: 9915952 Free PMC article.
665 results