Dollfus H - Search Results

1

[A new mode of recording retinal activity: multifocal ERG].

Mack G, Dollfus H, Flament J, Mohand-Said S, Sahel J. Mack G, et al. Among authors: dollfus h. J Fr Ophtalmol. 1999 Mar;22(2):221-5. J Fr Ophtalmol. 1999. PMID: 10327355 French.

2

Bilateral iridoretinal colobomas in a child with a Noonan phenotype.

Dollfus H, Cantenot L, Rouault F, Philipp N, Flament J. Dollfus H, et al. Clin Dysmorphol. 2001 Oct;10(4):299-300. doi: 10.1097/00019605-200110000-00014. Clin Dysmorphol. 2001. PMID: 11666009 No abstract available.

3

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

Porto FB, Mack G, Sterboul MJ, Lewin P, Flament J, Sahel J, Dollfus H. Porto FB, et al. Among authors: dollfus h. Am J Ophthalmol. 2001 Dec;132(6):935-7. doi: 10.1016/s0002-9394(01)01187-4. Am J Ophthalmol. 2001. PMID: 11730668

4

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H. Minn D, et al. Among authors: dollfus h. Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348. Am J Med Genet. 2002. PMID: 11977181 Review.

5

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. Surv Ophthalmol. 2003 Jan-Feb;48(1):107-22. doi: 10.1016/s0039-6257(02)00400-9. Surv Ophthalmol. 2003. PMID: 12559331 Review.

6

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. Clin Genet. 2003 Feb;63(2):117-20. doi: 10.1034/j.1399-0004.2003.00011.x. Clin Genet. 2003. PMID: 12630957

7

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, Dollfus H. Vincent MC, et al. Among authors: dollfus h. Am J Ophthalmol. 2004 Dec;138(6):1016-21. doi: 10.1016/j.ajo.2004.08.003. Am J Ophthalmol. 2004. PMID: 15629294

8

[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. 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.

9

[Ondine's Curse and rare oculomotor abnormalities: a case report].

Michel G, Villega F, Desprez P, Dollfus H, Speeg-Schatz C. Michel G, et al. Among authors: dollfus h. J Fr Ophtalmol. 2006 Apr;29(4):422-5. doi: 10.1016/s0181-5512(06)77703-8. J Fr Ophtalmol. 2006. PMID: 16885811 French.

10

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Hanein S, Perrault I, Gerber S, Dollfus H, Dufier JL, Feingold J, Munnich A, Bhattacharya S, Kaplan J, Sahel JA, Rozet JM, Leveillard T. Hanein S, et al. Among authors: dollfus h. Adv Exp Med Biol. 2006;572:9-14. doi: 10.1007/0-387-32442-9_2. Adv Exp Med Biol. 2006. PMID: 17249548 No abstract available.

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