Chassaing N - Search Results

1

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.

2

Artifacts and main lesions in fetal ocular histology.

Dubucs C, Chassaing N, Khung-Savatovsky S, Aziza J, Courtade-Saïdi M. Dubucs C, et al. Among authors: chassaing n. Morphologie. 2023 Jun;107(357):207-218. doi: 10.1016/j.morpho.2022.08.002. Epub 2022 Dec 5. Morphologie. 2023. PMID: 36470718

3

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: chassaing n. 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.

4

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.

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. 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. 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 and nephrolithiasis.

Fabre B, Bayle P, Bazex J, Durand D, Lamant L, Chassaing N. Fabre B, et al. Among authors: chassaing n. J Eur Acad Dermatol Venereol. 2005 Mar;19(2):212-5. doi: 10.1111/j.1468-3083.2005.01007.x. J Eur Acad Dermatol Venereol. 2005. PMID: 15752294

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

9

Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.

Cattan D, Bouali B, Chassaing N, Martinez F, Dupont JM, Dode C, Martin L. Cattan D, et al. Among authors: chassaing n. Br J Dermatol. 2006 Jun;154(6):1190-3. doi: 10.1111/j.1365-2133.2006.07187.x. Br J Dermatol. 2006. PMID: 16704654

10

Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.

Chassaing N, Kanitakis J, Sportich S, Cordier-Alex MP, Titeux M, Calvas P, Claudy A, Berbis P, Hovnanian A. Chassaing N, et al. J Invest Dermatol. 2006 Dec;126(12):2715-7. doi: 10.1038/sj.jid.5700553. Epub 2006 Sep 21. J Invest Dermatol. 2006. PMID: 16990804 Free article. No abstract available.

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