Duriez B - Search Results

1

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: duriez b. Hum Genet. 2000 Dec;107(6):642-9. doi: 10.1007/s004390000427. Hum Genet. 2000. PMID: 11153919

2

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: duriez b. 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

3

Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M. Amselem S, et al. Among authors: duriez b. Hum Mol Genet. 1993 Apr;2(4):355-9. doi: 10.1093/hmg/2.4.355. Hum Mol Genet. 1993. PMID: 8504296

4

Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.

Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S. Chapelin C, et al. Among authors: duriez b. FEBS Lett. 1997 Jul 28;412(2):325-30. doi: 10.1016/s0014-5793(97)00800-4. FEBS Lett. 1997. PMID: 9256245 Free article.

5

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: duriez b. Am J Hum Genet. 1999 Dec;65(6):1508-19. doi: 10.1086/302683. Am J Hum Genet. 1999. PMID: 10577904 Free PMC article.

6

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.

Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers Av, Goossens M, Grüters A, Amselem S. Netchine I, et al. Among authors: duriez b. Nat Genet. 2000 Jun;25(2):182-6. doi: 10.1038/76041. Nat Genet. 2000. PMID: 10835633

7

[Molecular basis of the primary ciliary dyskinesias].

Moore A, Amselem S, Duriez B, Escudier E. Moore A, et al. Among authors: duriez b. 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.

8

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: duriez b. 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.

9

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. 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.

10

An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.

Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M. Duriez B, et al. FEBS Lett. 1994 Jun 13;346(2-3):165-70. doi: 10.1016/0014-5793(94)00457-9. FEBS Lett. 1994. PMID: 8013627 Free article.

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