Chassaing N - Search Results

1

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Chassaing N, et al. Genome Res. 2016 Apr;26(4):474-85. doi: 10.1101/gr.196048.115. Epub 2016 Feb 18. Genome Res. 2016. PMID: 26893459 Free PMC article.

2

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Am J Med Genet A. 2003 Sep 1;121A(3):258-62. doi: 10.1002/ajmg.a.20266. Am J Med Genet A. 2003. PMID: 12923867 Review.

3

Novel ABCC6 mutations in pseudoxanthoma elasticum.

Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A. Chassaing N, et al. J Invest Dermatol. 2004 Mar;122(3):608-13. doi: 10.1111/j.0022-202X.2004.22312.x. J Invest Dermatol. 2004. PMID: 15086542 Free article.

4

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.

Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. Chassaing N, et al. Am J Med Genet A. 2004 Aug 1;128A(4):410-3. doi: 10.1002/ajmg.a.30199. Am J Med Genet A. 2004. PMID: 15264288

5

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Chassaing N, et al. J Med Genet. 2005 Dec;42(12):881-92. doi: 10.1136/jmg.2004.030171. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894595 Free PMC article. Review.

6

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

7

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC. Chassaing N, et al. Hum Mutat. 2006 Mar;27(3):255-9. doi: 10.1002/humu.20295. Hum Mutat. 2006. PMID: 16435307

8

Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

Chassaing N, Gilbert-Dussardier B, Nicot F, Fermeaux V, Encha-Razavi F, Fiorenza M, Toutain A, Calvas P. Chassaing N, et al. Am J Med Genet A. 2007 Feb 1;143A(3):289-91. doi: 10.1002/ajmg.a.31524. Am J Med Genet A. 2007. PMID: 17219395 No abstract available.

9

Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients.

Chassaing N, Martin L, Bourthoumieu S, Calvas P, Hovnanian A. Chassaing N, et al. Hum Mutat. 2007 Oct;28(10):1046. doi: 10.1002/humu.9509. Hum Mutat. 2007. PMID: 17823974

10

ABCC6 is unlikely to be a modifier gene for familial Mediterranean fever severity.

Chassaing N, Touitou I, Cattan D, Calvas P. Chassaing N, et al. J Genet. 2007 Dec;86(3):293-5. doi: 10.1007/s12041-007-0040-9. J Genet. 2007. PMID: 18305351 No abstract available.

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