Copin H - Search Results

1

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: copin h. Eur J Hum Genet. 2005 Apr;13(4):409-13. doi: 10.1038/sj.ejhg.5201358. Eur J Hum Genet. 2005. PMID: 15702131

2

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.

Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A. Brémond-Gignac D, et al. Among authors: copin h. Am J Med Genet A. 2005 May 1;134(4):422-5. doi: 10.1002/ajmg.a.30646. Am J Med Genet A. 2005. PMID: 15779023

3

[Ocular manifestations of Down syndrome and cytogenic aspects].

Copin H, Brémond-Gignac D. Copin H, et al. J Fr Ophtalmol. 2004 Oct;27(8):958-9. doi: 10.1016/s0181-5512(04)96244-4. J Fr Ophtalmol. 2004. PMID: 15547481 French. No abstract available.

4

[WAGR Syndrome].

Brémond-Gignac D, Copin H. Brémond-Gignac D, et al. Among authors: copin h. J Fr Ophtalmol. 2004 Dec;27(10):1198-9. doi: 10.1016/s0181-5512(04)96295-x. J Fr Ophtalmol. 2004. PMID: 15687936 French. No abstract available.

5

[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].

Bremond-Gignac D, Robert M, Daruich A, Borderie V, Chiambaretta F, Valleix S; Groupe Rédacteur Relecteur PNDS Aniridie. Bremond-Gignac D, et al. J Fr Ophtalmol. 2022 Jun;45(6):647-652. doi: 10.1016/j.jfo.2022.01.005. J Fr Ophtalmol. 2022. PMID: 35667788 Review. French.

6

Corneal epithelial stem cells for corneal injury.

Bremond-Gignac D, Copin H, Benkhalifa M. Bremond-Gignac D, et al. Among authors: copin h. Expert Opin Biol Ther. 2018 Sep;18(9):997-1003. doi: 10.1080/14712598.2018.1508443. Epub 2018 Aug 9. Expert Opin Biol Ther. 2018. PMID: 30092649 Review.

7

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Brémond-Gignac D, et al. Among authors: copin h. Mol Vis. 2010 Aug 22;16:1705-11. Mol Vis. 2010. PMID: 20806047 Free PMC article.

8

Contribution of Electronic Medical Records to the Management of Rare Diseases.

Bremond-Gignac D, Lewandowski E, Copin H. Bremond-Gignac D, et al. Among authors: copin h. Biomed Res Int. 2015;2015:954283. doi: 10.1155/2015/954283. Epub 2015 Oct 11. Biomed Res Int. 2015. PMID: 26539543 Free PMC article.

9

A severe prenatal presentation of Cat Eye Syndrome.

Jedraszak G, Receveur A, Andrieux J, Naepels P, Mathieu-Dramard M, Bremond-Gignac D, Sevestre H, Copin H, Rochette J. Jedraszak G, et al. Among authors: copin h. Clin Dysmorphol. 2013 Oct;22(4):175-177. doi: 10.1097/MCD.0000000000000011. Clin Dysmorphol. 2013. PMID: 23982124 No abstract available.

10

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G. Jedraszak G, et al. Among authors: copin h. Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Am J Med Genet A. 2015. PMID: 25572454 Review.

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