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Items: 1 to 50 of 148

1.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Mechaussier S, Marlin S, Kaplan J, Rozet JM, Perrault I.

Adv Exp Med Biol. 2019;1185:233-238. doi: 10.1007/978-3-030-27378-1_38.

PMID:
31884617
2.

Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Barny I, Perrault I, Rio M, Dollfus H, Defoort-Dhellemmes S, Kaplan J, Rozet JM, Gerard X.

Adv Exp Med Biol. 2019;1185:189-195. doi: 10.1007/978-3-030-27378-1_31.

PMID:
31884610
3.

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.

Nedelec B, Rozet JM, Fares Taie L.

Hum Genet. 2019 Sep;138(8-9):937-955. doi: 10.1007/s00439-019-02052-2. Epub 2019 Jul 29. Review.

PMID:
31359131
4.

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

Barny I, Perrault I, Michel C, Goudin N, Defoort-Dhellemmes S, Ghazi I, Kaplan J, Rozet JM, Gerard X.

Genes (Basel). 2019 May 14;10(5). pii: E368. doi: 10.3390/genes10050368.

5.

GENETICS OF LARGE PIGMENT EPITHELIAL DETACHMENTS IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

Mouallem-Beziere A, Blanco-Garavito R, Richard F, Miere A, Jung C, Rozet JM, Souied EH.

Retina. 2019 Jan 23. doi: 10.1097/IAE.0000000000002454. [Epub ahead of print]

PMID:
30681643
6.

Implication of non-coding PAX6 mutations in aniridia.

Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M.

Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5.

PMID:
30291432
7.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA.

JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17.

8.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Barny I, Perrault I, Michel C, Soussan M, Goudin N, Rio M, Thomas S, Attié-Bitach T, Hamel C, Dollfus H, Kaplan J, Rozet JM, Gerard X.

Hum Mol Genet. 2018 Aug 1;27(15):2689-2702. doi: 10.1093/hmg/ddy179.

PMID:
29771326
9.

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.

Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J.

Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.

10.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. No abstract available.

PMID:
29529130
11.

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I.

Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30.

12.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

13.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.

Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G.

Brain. 2017 Oct 1;140(10):2586-2596. doi: 10.1093/brain/awx219.

PMID:
28969390
14.

RETINOCHOROIDAL ANASTOMOSIS ASSOCIATED WITH ENHANCED S-CONE SYNDROME.

Zerbib J, Blanco Garavito R, Gerber S, Oubraham H, Sikorav A, Audo I, Kaplan J, Rozet JM, Souied EH.

Retin Cases Brief Rep. 2019 Fall;13(4):295-299. doi: 10.1097/ICB.0000000000000594.

PMID:
28541266
15.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Gerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM.

J Med Genet. 2017 May;54(5):346-356. doi: 10.1136/jmedgenet-2016-104212. Epub 2016 Dec 28.

PMID:
28031252
16.

Low energy Ne ion beam induced-modifications of magnetic properties in MnAs thin films.

Trassinelli M, Bernard Carlsson L, Cervera S, Eddrief M, Etgens VH, Gafton EV, Lacaze E, Lamour E, Lévy A, Macé S, Prigent C, Rozet JP, Steydli S, Marangolo M, Vernhet D.

J Phys Condens Matter. 2017 Feb 8;29(5):055001. doi: 10.1088/1361-648X/29/5/055001. Epub 2016 Dec 2.

PMID:
27911881
17.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.

Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21.

18.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976.

PMID:
26968735
19.

Incomplete penetrance of biallelic ALDH1A3 mutations.

Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N.

Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10.

PMID:
26873617
20.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

21.

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

Gerard X, Garanto A, Rozet JM, Collin RW.

Adv Exp Med Biol. 2016;854:517-24. doi: 10.1007/978-3-319-17121-0_69. Review.

PMID:
26427454
22.

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Gérard X, Perrault I, Munnich A, Kaplan J, Rozet JM.

Mol Ther Nucleic Acids. 2015 Sep 1;4:e250. doi: 10.1038/mtna.2015.24.

23.

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Perrault I, Halbritter J, Porath JD, Gérard X, Braun DA, Gee HY, Fathy HM, Saunier S, Cormier-Daire V, Thomas S, Attié-Bitach T, Boddaert N, Taschner M, Schueler M, Lorentzen E, Lifton RP, Lawson JA, Garfa-Traore M, Otto EA, Bastin P, Caillaud C, Kaplan J, Rozet JM, Hildebrandt F.

J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.

24.

Understanding disease pleiotropy: From puzzle to solution.

Rozet JM, Gérard X.

Sci Transl Med. 2015 Jun 10;7(291):291fs24. doi: 10.1126/scitranslmed.aac6504.

PMID:
26062843
25.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM.

Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. Epub 2015 Mar 12.

26.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.

J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.

PMID:
25351951
27.

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL.

Am J Hum Genet. 2014 Jun 5;94(6):891-7. doi: 10.1016/j.ajhg.2014.04.012. Epub 2014 May 8.

28.

Multimodal analysis of the progression of Best vitelliform macular dystrophy.

Querques G, Zerbib J, Georges A, Massamba N, Forte R, Querques L, Rozet JM, Kaplan J, Souied EH.

Mol Vis. 2014 Apr 27;20:575-92. eCollection 2014.

29.

Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration.

Tilleul J, Richard F, Puche N, Zerbib J, Leveziel N, Sahel JA, Cohen SY, Korobelnik JF, Feingold J, Munnich A, Kaplan J, Rozet JM, Souied EH.

Mol Vis. 2013 May 29;19:1132-40. Print 2013.

30.

Charge equilibrium of a laser-generated carbon-ion beam in warm dense matter.

Gauthier M, Chen SN, Levy A, Audebert P, Blancard C, Ceccotti T, Cerchez M, Doria D, Floquet V, Lamour E, Peth C, Romagnani L, Rozet JP, Scheinder M, Shepherd R, Toncian T, Vernhet D, Willi O, Borghesi M, Faussurier G, Fuchs J.

Phys Rev Lett. 2013 Mar 29;110(13):135003. Epub 2013 Mar 28.

PMID:
23581330
31.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM.

Biochim Biophys Acta. 2013 Jun;1830(6):3719-33. doi: 10.1016/j.bbagen.2013.02.025. Epub 2013 Mar 13.

PMID:
23500070
32.

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

Kaplan J, Perrault I, Hanein S, Dollfus H, Rozet JM.

Med Sci (Paris). 2013 Jan;29(1):26-7. doi: 10.1051/medsci/2013291008. Epub 2013 Jan 25. French. No abstract available.

33.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP.

Ophthalmic Epidemiol. 2013;20(1):13-25. doi: 10.3109/09286586.2012.737890.

PMID:
23350551
34.

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.

Gerard X, Perrault I, Hanein S, Silva E, Bigot K, Defoort-Delhemmes S, Rio M, Munnich A, Scherman D, Kaplan J, Kichler A, Rozet JM.

Mol Ther Nucleic Acids. 2012 Jun 26;1:e29. doi: 10.1038/mtna.2012.21.

35.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gérard X, Baumann C, Plessis G, Demeer B, Brétillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM.

Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9.

36.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM.

PLoS One. 2013;8(1):e51622. doi: 10.1371/journal.pone.0051622. Epub 2013 Jan 7.

37.

[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].

Dufier JL, Rozet JM, Kaplan J, Roche O.

Bull Acad Natl Med. 2013 Jan;197(1):133-9; discussion 140-1. Review. French.

PMID:
24672985
38.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.

Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240.

39.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM.

Nat Genet. 2012 Sep;44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29.

PMID:
22842229
40.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM.

Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.

41.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Delphin N, Hanein S, Taie LF, Zanlonghi X, Bonneau D, Moisan JP, Boyle C, Nitschke P, Pruvost S, Bonnefont JP, Munnich A, Roche O, Kaplan J, Rozet JM.

Eur J Hum Genet. 2012 Mar;20(3):352-6. doi: 10.1038/ejhg.2011.217. Epub 2011 Nov 30.

42.

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

Zerbib J, Puche N, Richard F, Leveziel N, Cohen SY, Korobelnik JF, Sahel J, Munnich A, Kaplan J, Rozet JM, Souied EH.

Exp Eye Res. 2011 Oct;93(4):382-6. doi: 10.1016/j.exer.2011.05.005. Epub 2011 May 20.

PMID:
21621535
43.

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Querques L, Rozet JM, Kaplan J, Souied EH.

Invest Ophthalmol Vis Sci. 2011 Jun 28;52(7):4678-84. doi: 10.1167/iovs.10-6500.

PMID:
21436265
44.

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Papon JF, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, Kaplan J, Rozet JM, Escudier E.

J Med Genet. 2010 Dec;47(12):829-34. doi: 10.1136/jmg.2010.077883. Epub 2010 Aug 30.

45.

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.

Zerbib J, Richard F, Puche N, Leveziel N, Cohen SY, Korobelnik JF, Sahel J, Munnich A, Kaplan J, Rozet JM, Souied EH.

Mol Vis. 2010 Jul 15;16:1324-30.

46.

Electronic temperatures, densities, and plasma x-ray emission of a 14.5 GHz electron-cyclotron resonance ion source.

Gumberidze A, Trassinelli M, Adrouche N, Szabo CI, Indelicato P, Haranger F, Isac JM, Lamour E, Le Bigot EO, Mérot J, Prigent C, Rozet JP, Vernhet D.

Rev Sci Instrum. 2010 Mar;81(3):033303. doi: 10.1063/1.3316805.

PMID:
20370166
47.

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.

Hum Mutat. 2010 Mar;31(3):E1241-50. doi: 10.1002/humu.21203.

PMID:
20104588
48.

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Querques G, Zerbib J, Santacroce R, Margaglione M, Delphin N, Rozet JM, Kaplan J, Martinelli D, Delle Noci N, Soubrane G, Souied EH.

Mol Vis. 2009 Dec 31;15:2960-72.

49.

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A.

J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. doi: 10.1016/j.jfo.2009.11.009. Epub 2010 Jan 6. French.

PMID:
20056295
50.

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.

Zerbib J, Seddon JM, Richard F, Reynolds R, Leveziel N, Benlian P, Borel P, Feingold J, Munnich A, Soubrane G, Kaplan J, Rozet JM, Souied EH.

PLoS One. 2009 Oct 5;4(10):e7341. doi: 10.1371/journal.pone.0007341.

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