Weissenbach J - Search Results

1

Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.

Delépine M, Pociot F, Habita C, Hashimoto L, Froguel P, Rotter J, Cambon-Thomsen A, Deschamps I, Djoulah S, Weissenbach J, Nerup J, Lathrop M, Julier C. Delépine M, et al. Among authors: weissenbach j. Am J Hum Genet. 1997 Jan;60(1):174-87. Am J Hum Genet. 1997. PMID: 8981961 Free PMC article.

2

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J. Jobard F, et al. Among authors: weissenbach j. Hum Mol Genet. 2002 Jan 1;11(1):107-13. doi: 10.1093/hmg/11.1.107. Hum Mol Genet. 2002. PMID: 11773004

3

Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L. Nikali K, et al. Among authors: weissenbach j. Am J Hum Genet. 1995 May;56(5):1088-95. Am J Hum Genet. 1995. PMID: 7726163 Free PMC article.

4

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Kaukonen JA, Amati P, Suomalainen A, Rötig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L, Zeviani M. Kaukonen JA, et al. Among authors: weissenbach j. Am J Hum Genet. 1996 Apr;58(4):763-9. Am J Hum Genet. 1996. PMID: 8644740 Free PMC article.

5

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: weissenbach j. 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.

6

Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

Aminoff M, Tahvanainen E, Gräsbeck R, Weissenbach J, Broch H, de la Chapelle A. Aminoff M, et al. Among authors: weissenbach j. Am J Hum Genet. 1995 Oct;57(4):824-31. Am J Hum Genet. 1995. PMID: 7573042 Free PMC article.

7

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.

Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al. Puffenberger EG, et al. Among authors: weissenbach j. Hum Mol Genet. 1994 Aug;3(8):1217-25. doi: 10.1093/hmg/3.8.1217. Hum Mol Genet. 1994. PMID: 7987295

8

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: weissenbach j. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539

9

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

Lefévre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Lefévre C, et al. Among authors: weissenbach j. Hum Mol Genet. 2003 Sep 15;12(18):2369-78. doi: 10.1093/hmg/ddg235. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915478

10

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: weissenbach j. Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246. Nat Genet. 1994. PMID: 7545953

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