Pelet A - Search Results

1

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Pelet A, Skopova V, Steuerwald U, Baresova V, Zarhrate M, Plaza JM, Hnizda A, Krijt M, Souckova O, Wibrand F, Andorsdóttir G, Joensen F, Sedlak D, Bleyer AJ, Kmoch S, Lyonnet S, Zikanova M. Pelet A, et al. Hum Mol Genet. 2019 Nov 15;28(22):3805-3814. doi: 10.1093/hmg/ddz237. Hum Mol Genet. 2019. PMID: 31600779

2

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M. Castanet M, et al. Among authors: pelet a. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. doi: 10.1093/hmg/11.17.2051. Hum Mol Genet. 2002. PMID: 12165566

3

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S, Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S. Le TL, et al. Among authors: pelet a. Am J Hum Genet. 2020 Jun 4;106(6):779-792. doi: 10.1016/j.ajhg.2020.04.010. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413283 Free PMC article.

4

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A, Burzynski G, Lantieri F, So MT, Berrios C, Shin HD, Fernández RM, Le TL, Verheij JB, Matera I, Cherny SS, Nandakumar P, Cheong HS, Antiñolo G, Amiel J, Seo JM, Kim DY, Oh JT, Lyonnet S, Borrego S, Ceccherini I, Hofstra RM, Chakravarti A, Kim HY, Sham PC, Tam PK, Garcia-Barceló MM. Tang CS, et al. Among authors: pelet a. Hum Mol Genet. 2016 Dec 1;25(23):5265-5275. doi: 10.1093/hmg/ddw333. Hum Mol Genet. 2016. PMID: 27702942 Free PMC article.

5

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.

Doray B, Salomon R, Amiel J, Pelet A, Touraine R, Billaud M, Attié T, Bachy B, Munnich A, Lyonnet S. Doray B, et al. Among authors: pelet a. Hum Mol Genet. 1998 Sep;7(9):1449-52. doi: 10.1093/hmg/7.9.1449. Hum Mol Genet. 1998. PMID: 9700200

6

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

7

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.

8

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S. Attié T, et al. Among authors: pelet a. Hum Mol Genet. 1995 Dec;4(12):2407-9. doi: 10.1093/hmg/4.12.2407. Hum Mol Genet. 1995. PMID: 8634719 No abstract available.

9

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

Crétolle C, Pelet A, Sanlaville D, Zérah M, Amiel J, Jaubert F, Révillon Y, Baala L, Munnich A, Nihoul-Fékété C, Lyonnet S. Crétolle C, et al. Among authors: pelet a. Hum Mutat. 2008 Jul;29(7):903-10. doi: 10.1002/humu.20718. Hum Mutat. 2008. PMID: 18449898

10

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

Jannot AS, Amiel J, Pelet A, Lantieri F, Fernandez RM, Verheij JB, Garcia-Barcelo M, Arnold S, Ceccherini I, Borrego S, Hofstra RM, Tam PK, Munnich A, Chakravarti A, Clerget-Darpoux F, Lyonnet S. Jannot AS, et al. Among authors: pelet a. Eur J Hum Genet. 2012 Sep;20(9):917-20. doi: 10.1038/ejhg.2012.35. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395866 Free PMC article.

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