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Items: 25

1.

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.

Trochet D, Prudhon B, Beuvin M, Peccate C, Lorain S, Julien L, Benkhelifa-Ziyyat S, Rabai A, Mamchaoui K, Ferry A, Laporte J, Guicheney P, Vassilopoulos S, Bitoun M.

EMBO Mol Med. 2018 Feb;10(2):239-253. doi: 10.15252/emmm.201707988.

2.

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

Kutchukian C, Szentesi P, Allard B, Trochet D, Beuvin M, Berthier C, Tourneur Y, Guicheney P, Csernoch L, Bitoun M, Jacquemond V.

J Physiol. 2017 Dec 15;595(24):7369-7382. doi: 10.1113/JP274990. Epub 2017 Nov 21.

PMID:
29071728
3.

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing.

Trochet D, Prudhon B, Jollet A, Lorain S, Bitoun M.

Mol Ther Nucleic Acids. 2016 Sep 13;5(9):e362. doi: 10.1038/mtna.2016.67.

4.

Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.

Trochet D, Prudhon B, Vassilopoulos S, Bitoun M.

Curr Gene Ther. 2015;15(5):503-10. Review.

PMID:
26264709
5.

Telomere regulation during ageing and tumorigenesis of the grey mouse lemur.

Trochet D, Mergui X, Ivkovic I, Porreca RM, Gerbault-Seureau M, Sidibe A, Richard F, Londono-Vallejo A, Perret M, Aujard F, Riou JF.

Biochimie. 2015 Jun;113:100-10. doi: 10.1016/j.biochi.2015.04.002. Epub 2015 Apr 14.

6.

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression.

Nagashimada M, Ohta H, Li C, Nakao K, Uesaka T, Brunet JF, Amiel J, Trochet D, Wakayama T, Enomoto H.

J Clin Invest. 2012 Sep;122(9):3145-58. doi: 10.1172/JCI63401. Epub 2012 Aug 27.

7.

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Trochet D, Mathieu Y, Pontual Ld, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J.

Hum Mutat. 2009 Feb;30(2):E421-31. doi: 10.1002/humu.20923.

PMID:
19058226
8.

Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

De Pontual L, Trochet D, Caillat-Zucman S, Abou Shenab OA, Bougneres P, Crow Y, Cunningham S, Esteva B, Heberle LC, Leger J, Pinto G, Polak M, Shafik MH, Straus C, Trang H, Munnich A, Lyonnet S, Desguerre I, Amiel J.

Pediatr Res. 2008 Dec;64(6):689-94. doi: 10.1203/PDR.0b013e318187dd0e.

PMID:
18670370
9.

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J.

Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20727.

PMID:
18407552
10.

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

Dubreuil V, Ramanantsoa N, Trochet D, Vaubourg V, Amiel J, Gallego J, Brunet JF, Goridis C.

Proc Natl Acad Sci U S A. 2008 Jan 22;105(3):1067-72. doi: 10.1073/pnas.0709115105. Epub 2008 Jan 15.

11.

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J.

Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11. Epub 2007 Dec 13.

PMID:
18079495
12.

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J.

Eur J Cancer. 2007 Nov;43(16):2366-72. Epub 2007 Aug 31.

13.

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Carré A, Castanet M, Sura-Trueba S, Szinnai G, Van Vliet G, Trochet D, Amiel J, Léger J, Czernichow P, Scotet V, Polak M.

Hum Genet. 2007 Dec;122(5):467-76. Epub 2007 Aug 24.

PMID:
17717707
14.

Polyalanine expansions might not result from unequal crossing-over.

Trochet D, de Pontual L, Keren B, Munnich A, Vekemans M, Lyonnet S, Amiel J.

Hum Mutat. 2007 Oct;28(10):1043-4. No abstract available.

PMID:
17559084
15.

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S, Amiel J.

Hum Mutat. 2007 Aug;28(8):790-6.

PMID:
17397038
16.

PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.

Or SF, Tong MF, Lo FM, Law CW, Miu TY, Trochet D, Lam TS.

Chin Med J (Engl). 2006 Oct 20;119(20):1749-52. No abstract available.

PMID:
17097025
17.

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.

de Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J.

J Med Genet. 2006 May;43(5):419-23. Epub 2006 Jan 27.

18.

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J.

Hum Mol Genet. 2005 Dec 1;14(23):3697-708. Epub 2005 Oct 25.

PMID:
16249188
19.

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Bourdeaut F, Trochet D, Janoueix-Lerosey I, Ribeiro A, Deville A, Coz C, Michiels JF, Lyonnet S, Amiel J, Delattre O.

Cancer Lett. 2005 Oct 18;228(1-2):51-8. Review.

PMID:
15949893
20.

Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant.

Bajaj R, Smith J, Trochet D, Pitkin J, Ouvrier R, Graf N, Sillence D, Kluckow M.

Pediatrics. 2005 Jun;115(6):e737-8.

PMID:
15930201
21.

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J.

Am J Hum Genet. 2005 Mar;76(3):421-6. Epub 2005 Jan 18. Erratum in: Am J Hum Genet. 2005 Apr;76(4):715. Niemann, Stephan [added].

22.

Polyalanine expansions in human.

Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S.

Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. Review.

PMID:
15358730
23.

PHOX2B gene mutation in a patient with late-onset central hypoventilation.

Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J.

Pediatr Pulmonol. 2004 Oct;38(4):349-51.

PMID:
15334515
24.

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma.

Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frébourg T, Munnich A, Lyonnet S, Delattre O, Amiel J.

Am J Hum Genet. 2004 Apr;74(4):761-4. Epub 2004 Mar 11.

25.

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.

Nat Genet. 2003 Apr;33(4):459-61. Epub 2003 Mar 17.

PMID:
12640453

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