Cluzeau C - Search Results

1

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, Zribi J, Bal E, Cluzeau C, Chrabieh M, Towne JE, Douangpanya J, Pons C, Mansour S, Serre V, Makni H, Mahfoudh N, Fakhfakh F, Bodemer C, Feingold J, Hadj-Rabia S, Favre M, Genin E, Sahbatou M, Munnich A, Casanova JL, Sims JE, Turki H, Bachelez H, Smahi A. Marrakchi S, et al. Among authors: cluzeau c. N Engl J Med. 2011 Aug 18;365(7):620-8. doi: 10.1056/NEJMoa1013068. N Engl J Med. 2011. PMID: 21848462 Free article.

2

First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia.

Cluzeau C, Marrakchi S, Picard C, Munnich A, Smahi A, Turki H. Cluzeau C, et al. J Eur Acad Dermatol Venereol. 2019 Feb;33(2):e55-e57. doi: 10.1111/jdv.15182. Epub 2018 Oct 14. J Eur Acad Dermatol Venereol. 2019. PMID: 30022538 No abstract available.

3

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.

Cluzeau C, Hadj-Rabia S, Bal E, Clauss F, Munnich A, Bodemer C, Headon D, Smahi A. Cluzeau C, et al. Br J Dermatol. 2012 Mar;166(3):678-81. doi: 10.1111/j.1365-2133.2011.10620.x. Epub 2011 Dec 5. Br J Dermatol. 2012. PMID: 21916884 No abstract available.

4

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A. Mégarbané H, et al. Among authors: cluzeau c. Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509. Am J Med Genet A. 2008. PMID: 18816645

5

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, Hadj-Rabia S, Bodemer C, Munnich A, Courtois G, Sefiani A, Smahi A. Bal E, et al. Among authors: cluzeau c. Hum Mutat. 2007 Jul;28(7):703-9. doi: 10.1002/humu.20500. Hum Mutat. 2007. PMID: 17354266

6

Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.

Chassaing N, Cluzeau C, Bal E, Guigue P, Vincent MC, Viot G, Ginisty D, Munnich A, Smahi A, Calvas P. Chassaing N, et al. Among authors: cluzeau c. Br J Dermatol. 2010 May;162(5):1044-8. doi: 10.1111/j.1365-2133.2010.09670.x. Epub 2010 Mar 5. Br J Dermatol. 2010. PMID: 20222921

7

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, Smahi A. Cluzeau C, et al. Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384. Hum Mutat. 2011. PMID: 20979233

8

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Borck G, Zarhrate M, Cluzeau C, Bal E, Bonnefont JP, Munnich A, Cormier-Daire V, Colleaux L. Borck G, et al. Among authors: cluzeau c. Hum Mutat. 2006 Aug;27(8):731-5. doi: 10.1002/humu.20380. Hum Mutat. 2006. PMID: 16799922

9

Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.

Rogers M, Motola S, Bechichi Y, Cluzeau C, Terray T, Berent A, Panagoulias J, Duis J, Eggenspieler D, Servais L. Rogers M, et al. Among authors: cluzeau c. Children (Basel). 2023 Aug 28;10(9):1462. doi: 10.3390/children10091462. Children (Basel). 2023. PMID: 37761423 Free PMC article.

10

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.

Martin KB, Williams IM, Cluzeau CV, Cougnoux A, Dale RK, Iben JR, Cawley NX, Wassif CA, Porter FD. Martin KB, et al. Among authors: cluzeau cv. Int J Mol Sci. 2019 Dec 31;21(1):292. doi: 10.3390/ijms21010292. Int J Mol Sci. 2019. PMID: 31906248 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

23 results

Search Page

Filters