Calvas P - Search Results

1

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK. Plaisancié J, et al. Among authors: calvas p. Hum Genet. 2019 Sep;138(8-9):799-830. doi: 10.1007/s00439-019-01977-y. Epub 2019 Feb 14. Hum Genet. 2019. PMID: 30762128 Review.

2

Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome.

De Mas P, Chassaing N, Chaix Y, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. De Mas P, et al. Among authors: calvas p. J Med Genet. 2002 Apr;39(4):e17. doi: 10.1136/jmg.39.4.e17. J Med Genet. 2002. PMID: 11950869 Free PMC article. No abstract available.

3

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

Vincent MC, Pujo AL, Olivier D, Calvas P. Vincent MC, et al. Among authors: calvas p. Eur J Hum Genet. 2003 Feb;11(2):163-9. doi: 10.1038/sj.ejhg.5200940. Eur J Hum Genet. 2003. PMID: 12634864

4

Donnai-Barrow syndrome: four additional patients.

Chassaing N, Lacombe D, Carles D, Calvas P, Saura R, Bieth E. Chassaing N, et al. Among authors: calvas p. 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.

5

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. Among authors: calvas p. 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.

6

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. Among authors: calvas p. 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

7

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. Among authors: calvas p. 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.

8

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. Among authors: calvas p. Hum Mutat. 2006 Mar;27(3):255-9. doi: 10.1002/humu.20295. Hum Mutat. 2006. PMID: 16435307

9

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. Among authors: calvas p. 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.

10

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. Among authors: calvas p. Hum Mutat. 2007 Oct;28(10):1046. doi: 10.1002/humu.9509. Hum Mutat. 2007. PMID: 17823974

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