Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

被引：25

作者：

Khan, Arif O. ^{[1
]}

Bifari, Inam N. ^{[1
]}

Bolz, Hanno J. ^{[2
,3
]}

机构：

[1] King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

[2] Bioscientia, Ctr Human Genet, Ingelheim, Germany

[3] Univ Cologne, Inst Human Genet, D-50931 Cologne, Germany

来源：

OPHTHALMOLOGY | 2015年 / 122卷 / 08期

关键词：

D O I：

10.1016/j.ophtha.2015.03.001

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

[No abstract available]

引用

页码：1726 / 1727

页数：2

共 5 条

[1] Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies [J].

Eisenberger, Tobias ;

Neuhaus, Christine ;

Khan, Arif O. ;

Decker, Christian ;

Preising, Markus N. ;

Friedburg, Christoph ;

Bieg, Anika ;

Gliem, Martin ;

Issa, Peter Charbel ;

Holz, Frank G. ;

Baig, Shahid M. ;

Hellenbroich, Yorck ;

Galvez, Alberto ;

Platzer, Konrad ;

Wollnik, Bernd ;

Laddach, Nadja ;

Ghaffari, Saeed Reza ;

Rafati, Maryam ;

Botzenhart, Elke ;

Tinschert, Sigrid ;

Boerger, Doris ;

Bohring, Axel ;

Schreml, Julia ;

Koertge-Jung, Stefani ;

Schell-Apacik, Chayim ;

Bakur, Khadijah ;

Al-Aama, Jumana Y. ;

Neuhann, Teresa ;

Herkenrath, Peter ;

Nuernberg, Gudrun ;

Nuernburg, Peter ;

Davis, John S. ;

Gal, Andreas ;

Bergmann, Carsten ;

Lorenz, Birgit ;

Bolz, Hanno J. .

PLOS ONE, 2013, 8 (11)

[2] Clinical characterisation of the CABP4-related retinal phenotype [J].

Khan, Arif O. ;

Alrashed, May ;

Alkuraya, Fowzan S. .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2013, 97 (03) :262-265

[3]

Marshall JD, 1993, GENEREVIEWS R

[4] Retinal Structure and Function in Achromatopsia Implications for Gene Therapy [J].

Sundaram, Venki ;

Wilde, Caroline ;

Aboshiha, Jonathan ;

Cowing, Jill ;

Han, Colin ;

Langlo, Christopher S. ;

Chana, Ravinder ;

Davidson, Alice E. ;

Sergouniotis, Panagiotis I. ;

Bainbridge, James W. ;

Ali, Robin R. ;

Dubra, Alfredo ;

Rubin, Gary ;

Webster, Andrew R. ;

Moore, Anthony T. ;

Nardini, Marko ;

Carroll, Joseph ;

Michaelides, Michel .

OPHTHALMOLOGY, 2014, 121 (01) :234-245

[5]

Vingolo Enzo Maria, 2010, J Pediatr Ophthalmol Strabismus, V47 Online, pe1, DOI 10.3928/01913913-20100507-05

← 1 →