Pelet A - Search Results

1

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

2

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.

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

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.

5

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

6

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Attié T, Till M, Pelet A, Edery P, Bonnet JP, Munnich A, Lyonnet S. Attié T, et al. Among authors: pelet a. J Med Genet. 1995 Apr;32(4):312-3. doi: 10.1136/jmg.32.4.312. J Med Genet. 1995. PMID: 7643365 Free PMC article.

7

A novel polymorphism in the coding sequence of the human RET proto-oncogene.

Edery P, Attié T, Mulligan LM, Pelet A, Eng C, Ponder BA, Munnich A, Lyonnet S. Edery P, et al. Among authors: pelet a. Hum Genet. 1994 Nov;94(5):579-80. doi: 10.1007/BF00211034. Hum Genet. 1994. PMID: 7959702

8

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

Attie T, Pelet A, Sarda P, Eng C, Edery P, Mulligan LM, Ponder BA, Munnich A, Lyonnet S. Attie T, et al. Among authors: pelet a. Hum Mol Genet. 1994 Aug;3(8):1439-40. doi: 10.1093/hmg/3.8.1439. Hum Mol Genet. 1994. PMID: 7987334 No abstract available.

9

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S, Edery P, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékéte C, Ponder BA, Munnich A. Lyonnet S, et al. Among authors: pelet a. C R Acad Sci III. 1994 Apr;317(4):358-62. C R Acad Sci III. 1994. PMID: 8000915 French.

10

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al. Le Merrer M, et al. Among authors: pelet a. Nat Genet. 1994 Mar;6(3):318-21. doi: 10.1038/ng0394-318. Nat Genet. 1994. PMID: 8012398

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