Pelet A - Search Results

1

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Sanlaville D, et al. Among authors: pelet a. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.

2

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: pelet a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

3

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Le Merrer M. Serville F, et al. Among authors: pelet a. Eur J Pediatr. 1992 Jul;151(7):515-8. doi: 10.1007/BF01957757. Eur J Pediatr. 1992. PMID: 1396913

4

The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52.

Lyonnet S, Pelet A, Royer G, Delrieu O, Serville F, le Marec B, Gruensteudel A, Pfeiffer RA, Briard ML, Dubay C, et al. Lyonnet S, et al. Among authors: pelet a. Genomics. 1992 Oct;14(2):508-10. doi: 10.1016/s0888-7543(05)80254-x. Genomics. 1992. PMID: 1427869

5

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: pelet a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

6

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Hentzen D, et al. Among authors: pelet a. Hum Genet. 1991 Dec;88(2):153-6. doi: 10.1007/BF00206063. Hum Genet. 1991. PMID: 1721894

7

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

Bonaïti-Pellié C, Pelet A, Ogier H, Nelson JR, Largillière C, Berthelot J, Saudubray JM, Munnich A. Bonaïti-Pellié C, et al. Among authors: pelet a. Hum Genet. 1990 Jan;84(2):163-6. doi: 10.1007/BF00208933. Hum Genet. 1990. PMID: 2298452

8

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray JM, Munnich A. Pelet A, et al. Hum Genet. 1990 Jan;84(2):167-71. doi: 10.1007/BF00208934. Hum Genet. 1990. PMID: 2298453

9

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A. Pelet A, et al. Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.

10

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A, et al. Attié T, et al. Among authors: pelet a. Hum Mol Genet. 1995 Aug;4(8):1381-6. doi: 10.1093/hmg/4.8.1381. Hum Mol Genet. 1995. PMID: 7581377

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