Calvas P - Search Results

1

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

2

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.

Vincent MC, Heitz F, Tricoire J, Bourrouillou G, Kuhlein E, Rolland M, Calvas P. Vincent MC, et al. Among authors: calvas p. Genet Couns. 1999;10(1):43-9. Genet Couns. 1999. PMID: 10191428

3

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent MC, Biancalana V, Ginisty D, Mandel JL, Calvas P. Vincent MC, et al. Among authors: calvas p. Eur J Hum Genet. 2001 May;9(5):355-63. doi: 10.1038/sj.ejhg.5200635. Eur J Hum Genet. 2001. PMID: 11378824

4

Increased aneuploidy in spermatozoa from testicular tumour patients after chemotherapy with cisplatin, etoposide and bleomycin.

De Mas P, Daudin M, Vincent MC, Bourrouillou G, Calvas P, Mieusset R, Bujan L. De Mas P, et al. Among authors: calvas p. Hum Reprod. 2001 Jun;16(6):1204-8. doi: 10.1093/humrep/16.6.1204. Hum Reprod. 2001. PMID: 11387293

5

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.

6

Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.

Vincent MC, Cossée M, Vabres P, Stewart F, Bonneau D, Calvas P. Vincent MC, et al. Among authors: calvas p. Arch Dermatol. 2002 Sep;138(9):1256-8. doi: 10.1001/archderm.138.9.1256. Arch Dermatol. 2002. PMID: 12225002 No abstract available.

7

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.

8

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.

9

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

10

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.

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