Escudier E - Search Results

1

Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-Zahrani HJ, Al-Shamary ZA, Al-Harbi A, Amselem S, Escudier E, Legendre M. Mabrouk I, et al. Among authors: escudier e. J Hum Genet. 2022 Jul;67(7):381-386. doi: 10.1038/s10038-021-01006-9. Epub 2022 Jan 20. J Hum Genet. 2022. PMID: 35046476

2

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Pennarun G, Escudier E, Chapelin C, Bridoux AM, Cacheux V, Roger G, Clément A, Goossens M, Amselem S, Duriez B. Pennarun G, et al. Among authors: escudier e. Am J Hum Genet. 1999 Dec;65(6):1508-19. doi: 10.1086/302683. Am J Hum Genet. 1999. PMID: 10577904 Free PMC article.

3

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia.

Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B. Pennarun G, et al. Among authors: escudier e. Hum Genet. 2000 Dec;107(6):642-9. doi: 10.1007/s004390000427. Hum Genet. 2000. PMID: 11153919

4

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

Pennarun G, Bridoux AM, Escudier E, Dastot-Le Moal F, Cacheux V, Amselem S, Duriez B. Pennarun G, et al. Among authors: escudier e. Am J Respir Cell Mol Biol. 2002 Mar;26(3):362-70. doi: 10.1165/ajrcmb.26.3.4738. Am J Respir Cell Mol Biol. 2002. PMID: 11867345

5

[Molecular basis of the primary ciliary dyskinesias].

Moore A, Amselem S, Duriez B, Escudier E. Moore A, et al. Among authors: escudier e. Rev Mal Respir. 2004 Jun;21(3 Pt 1):521-6. doi: 10.1016/s0761-8425(04)71356-x. Rev Mal Respir. 2004. PMID: 15292844 Review. French.

6

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Moore A, Escudier E, Roger G, Tamalet A, Pelosse B, Marlin S, Clément A, Geremek M, Delaisi B, Bridoux AM, Coste A, Witt M, Duriez B, Amselem S. Moore A, et al. Among authors: escudier e. J Med Genet. 2006 Apr;43(4):326-33. doi: 10.1136/jmg.2005.034868. Epub 2005 Jul 31. J Med Genet. 2006. PMID: 16055928 Free PMC article.

7

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Zariwala MA, et al. Among authors: escudier e. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20. Am J Respir Crit Care Med. 2006. PMID: 16858015 Free PMC article.

8

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia.

Duriez B, Duquesnoy P, Escudier E, Bridoux AM, Escalier D, Rayet I, Marcos E, Vojtek AM, Bercher JF, Amselem S. Duriez B, et al. Among authors: escudier e. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. doi: 10.1073/pnas.0611405104. Epub 2007 Feb 20. Proc Natl Acad Sci U S A. 2007. PMID: 17360648 Free PMC article.

9

Muco-ciliary differentiation of nasal epithelial cells is decreased after wound healing in vitro.

Lazard DS, Moore A, Hupertan V, Martin C, Escabasse V, Dreyfus P, Burgel PR, Amselem S, Escudier E, Coste A. Lazard DS, et al. Among authors: escudier e. Allergy. 2009 Aug;64(8):1136-43. doi: 10.1111/j.1398-9995.2009.02003.x. Epub 2009 Feb 24. Allergy. 2009. PMID: 19245428 Free PMC article.

10

Ciliary defects and genetics of primary ciliary dyskinesia.

Escudier E, Duquesnoy P, Papon JF, Amselem S. Escudier E, et al. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18. Paediatr Respir Rev. 2009. PMID: 19410201 Free article. Review.

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