Pelet A - Search Results

1

[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.

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

Phenotype-genotype correlations in X linked retinitis pigmentosa.

Kaplan J, Pelet A, Martin C, Delrieu O, Aymé S, Bonneau D, Briard ML, Hanauer A, Larget-Piet L, Lefrançois P, et al. Kaplan J, et al. Among authors: pelet a. J Med Genet. 1992 Sep;29(9):615-23. doi: 10.1136/jmg.29.9.615. J Med Genet. 1992. PMID: 1357178 Free PMC article.

4

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

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

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Szpiro-Tapia S, Kaplan J, Pelet A, Guilloud-Bataille M, Heuertz S, Nivelon-Chevallier A, Mathieu M, Piussan C, Journel H, Dodinval P, et al. Szpiro-Tapia S, et al. Among authors: pelet a. Ann Pediatr (Paris). 1990 Jan;37(1):13-9. Ann Pediatr (Paris). 1990. PMID: 2316957 French.

10

Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities.

Demaugre F, Bonnefont JP, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, Di Donato S, Saudubray JM. Demaugre F, et al. Among authors: pelet a. Pediatr Res. 1988 Sep;24(3):308-11. doi: 10.1203/00006450-198809000-00006. Pediatr Res. 1988. PMID: 3211616

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