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Page 1
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome.
Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H. Lagier-Tourenne C, et al. Among authors: flament j. J Med Genet. 2002 Nov;39(11):838-43. doi: 10.1136/jmg.39.11.838. J Med Genet. 2002. PMID: 12414825 Free PMC article. No abstract available.
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort JJ, Flament J, Veillon F, Perrin-Schmitt F. Dollfus H, et al. Among authors: flament j. Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x. Clin Genet. 2003. PMID: 12630957
Ocular manifestations in the inherited DNA repair disorders.
Dollfus H, Porto F, Caussade P, Speeg-Schatz C, Sahel J, Grosshans E, Flament J, Sarasin A. Dollfus H, et al. Among authors: flament j. Surv Ophthalmol. 2003 Jan-Feb;48(1):107-22. doi: 10.1016/s0039-6257(02)00400-9. Surv Ophthalmol. 2003. PMID: 12559331 Review.
[Update on Bardet-Biedl syndrome].
Dollfus H, Verloes A, Bonneau D, Cossée M, Perrin-Schmitt F, Brandt C, Flament J, Mandel JL. Dollfus H, et al. Among authors: flament j. J Fr Ophtalmol. 2005 Jan;28(1):106-12. doi: 10.1016/s0181-5512(05)81032-0. J Fr Ophtalmol. 2005. PMID: 15767906 Review. French.
436 results