Dollfus H - Search Results

1

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, Lebredonchel E, Mohand-Saïd S, Defoort-Dhellemmes S, Sahel JA, Dollfus H, Zanlonghi X, Audo I, Meunier I, Boulanger-Scemama E, Dhaenens CM. Smirnov V, et al. Among authors: dollfus h. Int J Mol Sci. 2021 Jun 15;22(12):6410. doi: 10.3390/ijms22126410. Int J Mol Sci. 2021. PMID: 34203883 Free PMC article.

2

[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.

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

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: dollfus h. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763

5

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, Mandel JL. Dollfus H, et al. Med Sci (Paris). 2006 Nov;22(11):901-4. doi: 10.1051/medsci/20062211901. Med Sci (Paris). 2006. PMID: 17101080 Free article. French. No abstract available.

6

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.

7

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Perrault I, et al. Among authors: dollfus h. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Hum Mutat. 2007. PMID: 17345604

8

[Vision disorders in children: what type of genetic counseling?].

Dollfus H, Pelletier V. Dollfus H, et al. Rev Prat. 2007 Nov 30;57(18):2000-1. Rev Prat. 2007. PMID: 18389551 French. No abstract available.

9

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Ferré M, et al. Among authors: dollfus h. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. Hum Mutat. 2009. PMID: 19319978 Free article.

10

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I, Hanein S, Gerard X, Delphin N, Fares-Taie L, Gerber S, Pelletier V, Mercé E, Dollfus H, Puech B, Defoort-Dhellemmes S, Petersen MD, Zafeiriou D, Munnich A, Kaplan J, Roche O, Rozet JM. Perrault I, et al. Among authors: dollfus h. Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203. Hum Mutat. 2010. PMID: 20104588

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