Fischer J - Search Results

1

L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.

Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M. Haliloglu G, et al. Among authors: fischer j. Neuropediatrics. 2008 Apr;39(2):119-22. doi: 10.1055/s-2008-1081217. Neuropediatrics. 2008. PMID: 18671189

2

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. Hum Mol Genet. 2001 Apr 1;10(8):875-80. doi: 10.1093/hmg/10.8.875. Hum Mol Genet. 2001. PMID: 11285253

3

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: fischer 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.

4

Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefèvre syndrome.

Lefèvre C, Blanchet-Bardon C, Jobard F, Bouadjar B, Stalder JF, Cure S, Hoffmann A, Prud'Homme JF, Fischer J. Lefèvre C, et al. Among authors: fischer j. J Invest Dermatol. 2001 Dec;117(6):1657-61. doi: 10.1046/j.0022-202x.2001.01595.x. J Invest Dermatol. 2001. PMID: 11886537 Free article.

5

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: fischer 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

6

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. Lefèvre C, et al. Among authors: fischer j. Hum Mol Genet. 2004 Oct 15;13(20):2473-82. doi: 10.1093/hmg/ddh263. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317751

7

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J. Topçu M, et al. Among authors: fischer j. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385440

8

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

Claus S, Fischer J, Mégarbané H, Mégarbané A, Jobard F, Debret R, Peyrol S, Saker S, Devillers M, Sommer P, Damour O. Claus S, et al. Among authors: fischer j. J Invest Dermatol. 2008 Jun;128(6):1442-50. doi: 10.1038/sj.jid.5701211. Epub 2008 Jan 10. J Invest Dermatol. 2008. PMID: 18185537 Free article.

9

L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J. Sass JO, et al. Among authors: fischer j. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S275-9. doi: 10.1007/s10545-008-0855-4. Epub 2008 Apr 14. J Inherit Metab Dis. 2008. PMID: 18415700

10

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.

Haliloglu G, Temucin CM, Oguz KK, Celiker A, Coskun T, Sass JO, Fischer J, Topcu M. Haliloglu G, et al. Among authors: fischer j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S21-5. doi: 10.1007/s10545-009-0933-2. Epub 2009 Jan 26. J Inherit Metab Dis. 2009. PMID: 19169842

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