Pesquisa | Biblioteca Virtual em Saúde

1.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu, Mingchu; Xie, Yajing Angela; Abouzeid, Hana; Gordon, Christopher T; Fiorentino, Alessia; Sun, Zixi; Lehman, Anna; Osman, Ihab S; Dharmat, Rachayata; Riveiro-Alvarez, Rosa; Bapst-Wicht, Linda; Babino, Darwin; Arno, Gavin; Busetto, Virginia; Zhao, Li; Li, Hui; Lopez-Martinez, Miguel A; Azevedo, Liliana F; Hubert, Laurence; Pontikos, Nikolas; Eblimit, Aiden; Lorda-Sanchez, Isabel; Kheir, Valeria; Plagnol, Vincent; Oufadem, Myriam; Soens, Zachry T; Yang, Lizhu; Bole-Feysot, Christine; Pfundt, Rolph; Allaman-Pillet, Nathalie; Nitschké, Patrick; Cheetham, Michael E; Lyonnet, Stanislas; Agrawal, Smriti A; Li, Huajin; Pinton, Gaëtan; Michaelides, Michel; Besmond, Claude; Li, Yumei; Yuan, Zhisheng; von Lintig, Johannes; Webster, Andrew R; Le Hir, Hervé; Stoilov, Peter; Amiel, Jeanne; Hardcastle, Alison J; Ayuso, Carmen; Sui, Ruifang; Chen, Rui; Allikmets, Rando.

Am J Hum Genet; 100(4): 592-604, 2017 Apr 06.

Artigo em Inglês | MEDLINE | ID: mdl-28285769

2.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; de Preux, Anne-Sophie; Xiao, Tong; Bardakjian, Tanya; Schneider, Adele; Choi, Alex; Jorgenson, Eric; Baier, Herwig; El Sada, Mohamad; Schorderet, Daniel F; Slavotinek, Anne M.

Hum Mol Genet; 22(16): 3250-8, 2013 Aug 15.

Artigo em Inglês | MEDLINE | ID: mdl-23591992

3.

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.

Abouzeid, Hana; Favez, Tatiana; Schmid, Angélique; Agosti, Céline; Youssef, Mohammed; Marzouk, Iman; El Shakankiry, Nihal; Bayoumi, Nader; Munier, Francis L; Schorderet, Daniel F.

Hum Mutat; 35(8): 949-53, 2014 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-24777706

4.

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Abouzeid, Hana; Boisset, Gaëlle; Favez, Tatiana; Youssef, Mohamed; Marzouk, Iman; Shakankiry, Nihal; Bayoumi, Nader; Descombes, Patrick; Agosti, Céline; Munier, Francis L; Schorderet, Daniel F.

Am J Hum Genet; 88(1): 92-8, 2011 Jan 07.

Artigo em Inglês | MEDLINE | ID: mdl-21194680

5.

New-generation multifocal intraocular lens for pediatric cataract.

Abouzeid, Hana; Moetteli, Leila; Munier, Francis L.

Ophthalmologica; 230(2): 100-7, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-23880970

6.

Femtolaser dans la chirurgie de la cataracte: un avenir prometteur. / [Femtocataract surgery: a promising future?].

Abouzeid, Hana.

Rev Med Suisse; 9(410): 2350-3, 2013 Dec 11.

Artigo em Francês | MEDLINE | ID: mdl-24416984

7.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Slavotinek, Anne M; Chao, Ryan; Vacik, Tomas; Yahyavi, Mani; Abouzeid, Hana; Bardakjian, Tanya; Schneider, Adele; Shaw, Gary; Sherr, Elliott H; Lemke, Greg; Youssef, Mohammed; Schorderet, Daniel F.

Hum Mutat; 33(2): 364-8, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22095910

8.

RAX and anophthalmia in humans: evidence of brain anomalies.

Abouzeid, Hana; Youssef, Mohamed A; Bayoumi, Nader; ElShakankiri, Nihal; Marzouk, Iman; Hauser, Philippe; Schorderet, Daniel F.

Mol Vis; 18: 1449-56, 2012.

Artigo em Inglês | MEDLINE | ID: mdl-22736936

9.

Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.

Abouzeid, Hana; Schorderet, Daniel F; Balmer, Aubin; Munier, Francis L.

Mol Vis; 15: 771-7, 2009.

Artigo em Inglês | MEDLINE | ID: mdl-19390654

10.

PAX6 aniridia and interhemispheric brain anomalies.

Abouzeid, Hana; Youssef, Mohamed A; ElShakankiri, Nihal; Hauser, Philippe; Munier, Francis L; Schorderet, Daniel F.

Mol Vis; 15: 2074-83, 2009 Oct 17.

Artigo em Inglês | MEDLINE | ID: mdl-19862335

11.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

Abouzeid, Hana; Meire, Françoise M; Osman, Ihab; ElShakankiri, Nihal; Bolay, Sylvain; Munier, Francis L; Schorderet, Daniel F.

Ophthalmology; 116(1): 154-162.e1, 2009 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-19004499

12.

(106)Ruthenium brachytherapy for retinoblastoma.

Abouzeid, Hana; Moeckli, Raphaël; Gaillard, Marie-Claire; Beck-Popovic, Maja; Pica, Alessia; Zografos, Leonidas; Balmer, Aubin; Pampallona, Sandro; Munier, Francis L.

Int J Radiat Oncol Biol Phys; 71(3): 821-8, 2008 Jul 01.

Artigo em Inglês | MEDLINE | ID: mdl-18207660

13.

New developments in external beam radiotherapy for retinoblastoma: from lens to normal tissue-sparing techniques.

Munier, Francis L; Verwey, Jorn; Pica, Alessia; Balmer, Aubin; Zografos, Leonidas; Abouzeid, Hana; Timmerman, Beate; Goitein, Gudrun; Moeckli, Raphaël.

Clin Exp Ophthalmol; 36(1): 78-89, 2008 Jan-Feb.

Artigo em Inglês | MEDLINE | ID: mdl-18290958

14.

Ten novel RB1 gene mutations in patients with retinoblastoma.

Abouzeid, Hana; Munier, Francis L; Thonney, Francine; Schorderet, Daniel F.

Mol Vis; 13: 1740-5, 2007 Sep 19.

Artigo em Inglês | MEDLINE | ID: mdl-17960112

15.

Femtosecond-laser assisted cataract surgery: a review.

Abouzeid, Hana; Ferrini, Walter.

Acta Ophthalmol; 92(7): 597-603, 2014 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-24835818

16.

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.

El-Haig, Wael M; Jakobsson, Cecilia; Favez, Tatiana; Schorderet, Daniel F; Abouzeid, Hana.

Br J Ophthalmol; 98(12): 1718-23, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25091951

17.

Anterior uveitis and cataract after rubella vaccination: a case report of a 12-month-old girl.

Ferrini, Walter; Aubert, Vincent; Balmer, Aubin; Munier, Francis L; Abouzeid, Hana.

Pediatrics; 132(4): e1035-8, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-23999961

18.

Phenotypic variability of retinocytomas: preregression and postregression growth patterns.

Abouzeid, Hana; Balmer, Aubin; Moulin, Alexandre P; Mataftsi, Asimina; Zografos, Leonidas; Munier, Francis L.

Br J Ophthalmol; 96(6): 884-9, 2012 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-22328814

19.

Modern cataract surgery for radiation-induced cataracts in retinoblastoma.

Osman, Ihab M; Abouzeid, Hana; Balmer, Aubin; Gaillard, Marie-Claire; Othenin-Girard, Philippe; Pica, Alessia; Moeckli, Raphaël; Schorderet, Daniel F; Munier, Francis L.

Br J Ophthalmol; 95(2): 227-30, 2011 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-20576779

20.

Association between rate of binocular visual field change and vision-related quality of life: novel finding or spurious association?

Jóhannesson, Gauti; Abouzeid, Hana; Somner, John Edward Almond.

JAMA Ophthalmol; 132(6): 784-5, 2014 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-24921175

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