A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

By Dumitrescu Alina V.   Milunsky Jeff M.   Longmuir Susannah Q.   Drack Arlene V.  

Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 100-106

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A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome

By Akoury Elie   El Zir Elie   Mansour Ahmad   Mégarbané André   Majewski Jacek   Slim Rima  

Ophthalmic Genetics, Vol. 32, Iss. 4, 2011-11 ,pp. : 245-249

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A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

By Aliferis Konstantinos   Stoetzel Corinne   Pelletier Valérie   Hellé Sophie   Angioï-Duprez Karine   Vigneron Jacqueline   Leheup Bruno   Marion Vincent   Dollfus Hélène  

Ophthalmic Genetics, Vol. 32, Iss. 4, 2011-11 ,pp. : 250-255

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OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations

By Chacon-Camacho Oscar F.   Camarillo-Blancarte Leyla   Zenteno Juan C.  

Ophthalmic Genetics, Vol. 32, Iss. 1, 2011-03 ,pp. : 24-30

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Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene

By Liskova Petra   Filipec Martin   Merjava Stanislava   Jirsova Katerina   Tuft Stephen J.  

Ophthalmic Genetics, Vol. 31, Iss. 4, 2010-12 ,pp. : 230-234

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