Defoort-Dhellemmes S - Search Results

1

Characterization of SSBP1-related optic atrophy and foveopathy.

Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G. Meunier I, et al. Among authors: defoort dhellemmes s. Sci Rep. 2021 Sep 21;11(1):18703. doi: 10.1038/s41598-021-98150-1. Sci Rep. 2021. PMID: 34548540 Free PMC article.

2

Outer retinal dysfunction in patients treated with vigabatrin.

Arndt CF, Derambure P, Defoort-Dhellemmes S, Hache JC. Arndt CF, et al. Neurology. 1999 Apr 12;52(6):1201-5. doi: 10.1212/wnl.52.6.1201. Neurology. 1999. PMID: 10214744

3

[Quantitive evaluation of metamorphopsia in macular disease].

Arndt CF, Séguinet S, Debruyne P, Defoort-Dhellemmes S, Hache JC. Arndt CF, et al. J Fr Ophtalmol. 2000 Sep;23(7):679-82. J Fr Ophtalmol. 2000. PMID: 10992062 French.

4

Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation.

Defoort-Dhellemmes S, Denion E, Arndt CF, Bouvet-Drumare I, Hache JC, Dhellemmes P. Defoort-Dhellemmes S, et al. Am J Ophthalmol. 2002 May;133(5):723-5. doi: 10.1016/s0002-9394(02)01354-5. Am J Ophthalmol. 2002. PMID: 11992882 Review.

5

The effect on vision of associated treatments in patients taking vigabatrin: carbamazepine versus valproate.

Arndt CF, Salle M, Derambure PH, Defoort-Dhellemmes S, Hache JC. Arndt CF, et al. Epilepsia. 2002 Aug;43(8):812-7. doi: 10.1046/j.1528-1157.2002.42001.x. Epilepsia. 2002. PMID: 12180998 Free article.

6

[Congenital achromatopsia: electroretinogram in early diagnosis].

Defoort-Dhellemmes S, Lebrun T, Arndt CF, Bouvet-Drumare I, Guilbert F, Puech B, Hache JC. Defoort-Dhellemmes S, et al. J Fr Ophtalmol. 2004 Feb;27(2):143-8. doi: 10.1016/s0181-5512(04)96108-6. J Fr Ophtalmol. 2004. PMID: 15029041 French.

7

Retinal electrophysiological results in patients receiving lamotrigine monotherapy.

Arndt CF, Husson J, Derambure P, Hache JC, Arnaud B, Defoort-Dhellemmes S. Arndt CF, et al. Epilepsia. 2005 Jul;46(7):1055-60. doi: 10.1111/j.1528-1167.2005.43204.x. Epilepsia. 2005. PMID: 16026557 Free article.

8

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. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9485. Hum Mutat. 2007. PMID: 17345604

9

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896113 Free PMC 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. Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203. Hum Mutat. 2010. PMID: 20104588

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