Heilig R - Search Results

1

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C. Saunier S, et al. Among authors: heilig r. Hum Mol Genet. 1997 Dec;6(13):2317-23. doi: 10.1093/hmg/6.13.2317. Hum Mol Genet. 1997. PMID: 9361039

2

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C. Saunier S, et al. Among authors: heilig r. Am J Hum Genet. 2000 Mar;66(3):778-89. doi: 10.1086/302819. Am J Hum Genet. 2000. PMID: 10712196 Free PMC article.

3

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D. Abdelhak S, et al. Among authors: heilig r. Hum Mol Genet. 1997 Dec;6(13):2247-55. doi: 10.1093/hmg/6.13.2247. Hum Mol Genet. 1997. PMID: 9361030

4

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: heilig r. 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.

5

Genetic linkage of Meleda disease to chromosome 8qter.

Fischer J, Bouadjar B, Heilig R, Fizames C, Prud'homme JF, Weissenbach J. Fischer J, et al. Among authors: heilig r. Eur J Hum Genet. 1998 Nov-Dec;6(6):542-7. doi: 10.1038/sj.ejhg.5200254. Eur J Hum Genet. 1998. PMID: 9887370

6

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

7

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: heilig r. 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

8

Evidence of chromosomal inversion using fluorescence in situ hybridization to stretched DNA.

Salomon-Nguyen F, Le Coniat-Busson M, Heilig R, Campion D, Weissenbach J, Berger R. Salomon-Nguyen F, et al. Among authors: heilig r. C R Acad Sci III. 1998 Jun;321(6):447-52. doi: 10.1016/s0764-4469(98)80775-0. C R Acad Sci III. 1998. PMID: 9769858

9

DNA replication origin interference increases the spacing between initiation events in human cells.

Lebofsky R, Heilig R, Sonnleitner M, Weissenbach J, Bensimon A. Lebofsky R, et al. Among authors: heilig r. Mol Biol Cell. 2006 Dec;17(12):5337-45. doi: 10.1091/mbc.e06-04-0298. Epub 2006 Sep 27. Mol Biol Cell. 2006. PMID: 17005913 Free PMC article.

10

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: heilig r. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840

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