Plauchu H - Search Results

1

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. Morlé L, et al. Among authors: plauchu h. Am J Hum Genet. 2000 Dec;67(6):1592-7. doi: 10.1086/316894. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11035633 Free PMC article.

2

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P. Verot L, et al. Among authors: plauchu h. Am J Med Genet A. 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. Am J Med Genet A. 2003. PMID: 12949969

3

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. Vincent P, et al. Among authors: plauchu h. Hum Mol Genet. 1995 May;4(5):945-9. doi: 10.1093/hmg/4.5.945. Hum Mol Genet. 1995. PMID: 7633456

4

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

Alloisio N, Morlé L, Bozon M, Godet J, Verhoeven K, Van Camp G, Plauchu H, Muller P, Collet L, Lina-Granade G. Alloisio N, et al. Among authors: plauchu h. Eur J Hum Genet. 1999 Feb-Mar;7(2):255-8. doi: 10.1038/sj.ejhg.5200273. Eur J Hum Genet. 1999. PMID: 10196713

5

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Morlé L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G. Morlé L, et al. Among authors: plauchu h. J Med Genet. 2000 May;37(5):368-70. doi: 10.1136/jmg.37.5.368. J Med Genet. 2000. PMID: 10807696 Free PMC article.

6

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

Zech JC, Morlé L, Vincent P, Alloisio N, Bozon M, Gonnet C, Milazzo S, Grange JD, Trepsat C, Godet J, Plauchu H. Zech JC, et al. Among authors: plauchu h. Graefes Arch Clin Exp Ophthalmol. 1999 May;237(5):387-93. doi: 10.1007/s004170050249. Graefes Arch Clin Exp Ophthalmol. 1999. PMID: 10333105

7

[Genetic deafness:the primary cause of sensorineural hearing loss in children].

Lina-Granade G, Morlé L, Alloisio N, Edery P, Plauchu H, Truy E, Disant F, Collet L. Lina-Granade G, et al. Among authors: plauchu h. Arch Pediatr. 2001 Mar;8(3):308-12. doi: 10.1016/s0929-693x(00)00201-3. Arch Pediatr. 2001. PMID: 11270257 Review. French.

8

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Chaïb H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. Chaïb H, et al. Among authors: plauchu h. Hum Mol Genet. 1994 Dec;3(12):2219-22. doi: 10.1093/hmg/3.12.2219. Hum Mol Genet. 1994. PMID: 7881423

9

[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers].

Lesca G, Ollagnon-Roman E, Lachanat J, Dusser A, Edery P, Jeanpierre M, Plauchu H. Lesca G, et al. Among authors: plauchu h. Arch Pediatr. 2001 Sep;8(9):957-60. doi: 10.1016/s0929-693x(01)00561-9. Arch Pediatr. 2001. PMID: 11582937 French.

10

Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.

Zech JC, Putoux A, Decullier E, Fargeton AE, Edery P, Plauchu H, Dupuis-Girod S. Zech JC, et al. Among authors: plauchu h. J Clin Med. 2020 Mar 6;9(3):721. doi: 10.3390/jcm9030721. J Clin Med. 2020. PMID: 32155956 Free PMC article.

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