Chassaing N - Search Results

1

Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

Chesneau B, Ivashchenko V, Habib C, Gaston V, Escudié F, Morel G, Capri Y, Vincent-Delorme C, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: chassaing n. Eur J Hum Genet. 2023 May;31(5):607. doi: 10.1038/s41431-022-01254-z. Eur J Hum Genet. 2023. PMID: 36460742 Free PMC article. No abstract available.

2

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F. Nitschke Y, et al. Among authors: chassaing n. Am J Hum Genet. 2012 Jan 13;90(1):25-39. doi: 10.1016/j.ajhg.2011.11.020. Epub 2011 Dec 29. Am J Hum Genet. 2012. PMID: 22209248 Free PMC article.

3

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L. Le Boulanger G, et al. Among authors: chassaing n. Am J Med Genet A. 2010 Jan;152A(1):118-23. doi: 10.1002/ajmg.a.33162. Am J Med Genet A. 2010. PMID: 20034067

4

Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation.

Faguer S, Chauveau D, Decramer S, Chassaing N. Faguer S, et al. Among authors: chassaing n. NDT Plus. 2009 Aug;2(4):333-4. doi: 10.1093/ndtplus/sfp039. NDT Plus. 2009. PMID: 25984032 Free PMC article. No abstract available.

5

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: chassaing n. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

6

Manifestations of pseudoxanthoma elasticum in childhood.

Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Naouri M, et al. Among authors: chassaing n. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9. Br J Dermatol. 2009. PMID: 19519828

7

Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE.

Martin L, Maître F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Martin L, et al. Among authors: chassaing n. Arch Dermatol. 2008 Mar;144(3):301-6. doi: 10.1001/archderm.144.3.301. Arch Dermatol. 2008. PMID: 18347285

8

[Increased haemoglobin A2 levels in pseudoxanthoma elasticum].

Martin L, Pissard S, Blanc P, Chassaing N, Legac E, Briault S, Le Bert M, Le Saux O. Martin L, et al. Among authors: chassaing n. Ann Dermatol Venereol. 2006 Aug-Sep;133(8-9 Pt 1):645-51. doi: 10.1016/s0151-9638(06)70985-1. Ann Dermatol Venereol. 2006. PMID: 17053732 French.

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

Histological skin changes in heterozygote carriers of mutations in ABCC6, the gene causing pseudoxanthoma elasticum.

Martin L, Chassaing N, Delaite D, Estève E, Maître F, Le Bert M. Martin L, et al. Among authors: chassaing n. J Eur Acad Dermatol Venereol. 2007 Mar;21(3):368-73. doi: 10.1111/j.1468-3083.2006.01940.x. J Eur Acad Dermatol Venereol. 2007. PMID: 17309461

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