Is Part Of: Ophthalmic genetics. Volume 39:Number 4(2018) - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Is Part Of Ophthalmic genetics. Volume 39:Number 4(2018)

1. 22q11.2 microduplication syndrome and juvenile glaucoma. (4th July 2018)

Authors:: Di Matteo, Federico; Bettin, Paolo; Ferrari, Giulia; Fiori, Marina; Ciampi, Carlo; Manfredini, Emanuela; Rabiolo, Alessandro; Bandello, Francesco
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 532
Record Type:: Journal Article
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2. A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia. (4th July 2018)

Authors:: Liu, Xiaoqi; Wu, Yaqi; Miao, Zequn; Zhang, Houbin; Gong, Bo; Zhu, Xianjun; Huang, Lulin; Shi, Yi; Hao, Fang; Ma, Shi; Lin, He; Wang, Lejin; Yang, Zhenglin
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 428
Record Type:: Journal Article
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3. A novel MIP mutation in a Chinese family with congenital cataract. (4th July 2018)

Authors:: Yuan, Chao; Han, Tiantian; Su, Pan; Liu, Min; Zhou, Xiaopei; Zhang, Dazhi; Jia, Weimin; Wang, Ali; Yue, Min; Xiang, Zibing; Chen, Liming; Zhang, Xianqin
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 473
Record Type:: Journal Article
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4. Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. (4th July 2018)

Authors:: Rao, Bhavna S.; Ansar, Samdani; Arokiasamy, Tharigopala; Sudhir, Rachapalli R.; Umashankar, Vetrivel; Rajagopal, Rama; Soumittra, Nagasamy
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 443
Record Type:: Journal Article
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5. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. (4th July 2018)

Authors:: Kubota, Daiki; Gocho, Kiyoko; Kikuchi, Sachiko; Akeo, Keiichiro; Miura, Masahiro; Yamaki, Kunihiko; Takahashi, Hiroshi; Kameya, Shuhei
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 500
Record Type:: Journal Article
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6. Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy. (4th July 2018)

Authors:: Cervantes, Aleck E.; Gee, Katherine M.; Whiting, Martha F.; Frausto, Ricardo F.; Aldave, Anthony J.
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 419
Record Type:: Journal Article
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7. Corrigendum. (4th July 2018)

Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 553
Record Type:: Journal Article
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8. Detection and reporting of RB1 promoter hypermethylation in diagnostic screening. (4th July 2018)

Authors:: Price, Elizabeth A.; Kolkiewicz, Kelly; Patel, Roopal; Hashim, Sugera; Karaa, Esin; Scheimberg, Irene; Sagoo, Mandeep S.; Reddy, M. Ashwin; Onadim, Zerrin
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 526
Record Type:: Journal Article
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9. Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis. (4th July 2018)

Authors:: Abalem, Maria Fernanda; Musch, David C.; Birch, David G.; Pennesi, Mark E.; Heckenlively, John R.; Jayasundera, Thiran
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 437
Record Type:: Journal Article
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10. Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy. (4th July 2018)

Authors:: Alfano, Giovanna; Waseem, Naushin H.; Webster, Andrew R.; Bhattacharya, Shomi S.
Journal:: Ophthalmic genetics
Issue:: Volume 39:Number 4(2018)
Page Start:: 539
Record Type:: Journal Article
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