Ophthalmic genetics

Keyphrases

Publications

2024

Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy. Ophthalmic genetics (2024)
Efe Sezgin, Michael F Schneider, Peter W Hunt, Gabriele Beck-Engeser, Gabriele C Ambayac, Douglas A Jabs
Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS. Ophthalmic genetics (2024)
Nan Zhou, Mingyan He, Guangkai Zhou, Qiuyang Fan, Yanhua Qi
Variant in EZR leads to defects in lens development. Ophthalmic genetics (2024)
Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome. Ophthalmic genetics (2024)
Leila Alidoust, Alireza Sharafshah, Parvaneh Keshavarz
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population. Ophthalmic genetics (2024)
Orkun Muhsinoglu, Ibrahim Akalin, Remzi Karadag, Sarenur Yilmaz, Huseyin Bayramlar, James G Nicholson
Heterozygous Pyrin (MEFV) E148Q allele carriers indicate a reduced glaucoma risk for Turkish population: a prospective clinical analysis. Ophthalmic genetics (2024)
Rebeca A S Amaral, Olivia A Zin, Remo T Moraes, Fernanda B O Porto, Pedro C Carricondo, Sergio L G Pimentel, Bernardo P Kestelman, Sung E S Watanabe, Juliana Maria Ferraz Sallum
Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients. Ophthalmic genetics (2024)
Thales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele. Ophthalmic genetics (2024)
Thales A C de Guimaraes, Francesco Lai, Raffaella Colombatti, Giovanni Sato, Roberta Rizzo, Angelos Kalitzeos, Michel Michaelides
Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele. Ophthalmic genetics (2024)
Ebru Alp, Sibel Doğuizi, Fadime Mutlu Icduygu, Egemen Akgün, Mehmet Ali Şekeroğlu, Murat Atabey Ozer
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. Ophthalmic genetics (2024)
Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia. Ophthalmic genetics (2024)
Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Ozkul
ABCA4 variant screening in a Turkish cohort with Stargardt disease. Ophthalmic genetics (2024)
Tugche S Chen, Narin Sheri, David S Ehmann, Matthew D Benson
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy. Ophthalmic genetics (2024)
Paul Rj Ames, Alessia Arcaro, Giovanna D'Andrea, Vincenzo Marottoli, Luigi Iannaccone, Maurizio Maraglione, Fabrizio Gentile
Homozygous MTHFR C667T carriers ≤45 years old develop central retinal vein occlusion five years earlier than wild type. Ophthalmic genetics (2024)

volume 45, number 1, 2024

Ieva Inokaityte, Greta Gedvilaite, Rasa Liutkeviciene
Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration. Ophthalmic genetics 45 (1) (2024)
Ieva Inokaityte, Greta Gedvilaite, Rasa Liutkeviciene
Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration. Ophthalmic genetics 45 (1) (2024)
Ieva Inokaityte, Greta Gedvilaite, Rasa Liutkeviciene
Association of TAS2R16 gene (rs860170, rs978739, rs1357949) polymorphisms and TAS2R16 serum levels in patients with age-related macular degeneration. Ophthalmic genetics 45 (1) (2024)

volume 45, number 2, 2024

Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature. Ophthalmic genetics 45 (2) (2024)
Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachuei, Arzhang Gordiz, Sara Hemmati, Parvaneh Karimzadeh
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature. Ophthalmic genetics 45 (2) (2024)
William J Waldock, Laura J Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H Yusuf, Robert E MacLaren
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping. Ophthalmic genetics 45 (2) (2024)
Ebru Alp, Sibel Doğuizi, Fadime Mutlu Icduygu, Egemen Akgün, Mehmet Ali Şekeroğlu, Murat Atabey Ozer
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. Ophthalmic genetics 45 (2) (2024)
Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature. Ophthalmic genetics 45 (2) (2024)
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E Pennesi
A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic genetics 45 (2) (2024)
Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Yang
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. Ophthalmic genetics 45 (2) (2024)
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E Pennesi
A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic genetics 45 (2) (2024)
Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia. Ophthalmic genetics 45 (2) (2024)
Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia. Ophthalmic genetics 45 (2) (2024)
Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Ozkul
ABCA4 variant screening in a Turkish cohort with Stargardt disease. Ophthalmic genetics 45 (2) (2024)
Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Yang
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. Ophthalmic genetics 45 (2) (2024)
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E Pennesi
A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic genetics 45 (2) (2024)
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E Pennesi
A proposal for an updated staging system for LCHADD retinopathy. Ophthalmic genetics 45 (2) (2024)
Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Ozkul
ABCA4 variant screening in a Turkish cohort with Stargardt disease. Ophthalmic genetics 45 (2) (2024)
William J Waldock, Laura J Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H Yusuf, Robert E MacLaren
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping. Ophthalmic genetics 45 (2) (2024)
Neslihan Sinim Kahraman, Büşra Özgüç Çalışkan, Nefise Kandemir, Ayşe Öner, Munis Dündar, Yusuf Ozkul
ABCA4 variant screening in a Turkish cohort with Stargardt disease. Ophthalmic genetics 45 (2) (2024)
Ebru Alp, Sibel Doğuizi, Fadime Mutlu Icduygu, Egemen Akgün, Mehmet Ali Şekeroğlu, Murat Atabey Ozer
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. Ophthalmic genetics 45 (2) (2024)
Ebru Alp, Sibel Doğuizi, Fadime Mutlu Icduygu, Egemen Akgün, Mehmet Ali Şekeroğlu, Murat Atabey Ozer
An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. Ophthalmic genetics 45 (2) (2024)
Fatemeh Abdi, Sadaf Parvin, Vahid Zare Hosseinabadi, Maryam Kachuei, Arzhang Gordiz, Sara Hemmati, Parvaneh Karimzadeh
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature. Ophthalmic genetics 45 (2) (2024)
Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia. Ophthalmic genetics 45 (2) (2024)
William J Waldock, Laura J Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H Yusuf, Robert E MacLaren
A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping. Ophthalmic genetics 45 (2) (2024)

volume 45, number 3, 2024

Priya R Gupta, Kaitlin O'Connell, Jack M Sullivan, Rachel M Huckfeldt
RTN4IP1 -associated non-syndromic optic neuropathy and rod-cone dystrophy. Ophthalmic genetics 45 (3) (2024)
Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil
Macular atrophy and focal choroidal excavation in a patient with JAG1 - related alagille syndrome. Ophthalmic genetics 45 (3) (2024)
Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy. Ophthalmic genetics 45 (3) (2024)
Deepika C Parameswarappa, Deepak Kumar Bagga, Abhishek Upadhyaya, Jeyapoorani Balasubramanian, Venkatesh Pochaboina, Vani Muthineni, Subhadra Jalali, Chitra Kannabiran
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India. Ophthalmic genetics 45 (3) (2024)
Shifali Gupta, Anu Kumari, Roshan Daniel, Sonam Yangzes, Priyanka Srivastava, Anupriya Kaur
Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient. Ophthalmic genetics 45 (3) (2024)
Danjie Jiang, Shujuan Lin, Qinghai Gong, Jia Hong, Jinghui Wang, Hua Gao, Yanbo Guo, Feng Tong, Yan Zhang
PAX6 gene promoter methylation is correlated with myopia in Chinese adolescents: a pilot sutdy. Ophthalmic genetics 45 (3) (2024)
Ian MacDonald
William Gregory (Bill) Pearce MD, FRCS(C). Ophthalmic genetics 45 (3) (2024)
Leila Alidoust, Alireza Sharafshah, Parvaneh Keshavarz
Haplotype-based association study of TCF7L2 gene variants with the development of diabetic retinopathy in an Iranian population. Ophthalmic genetics 45 (3) (2024)
Sekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, Christina Fagerberg, Charlotte Brasch-Andersen, Jakob Grauslund, Francis L Munier, Michael Larsen
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females. Ophthalmic genetics 45 (3) (2024)
Xi He, Shi-Ming Li
Genetic methylation in myopia. Ophthalmic genetics 45 (3) (2024)
Kirstine Bolette Boysen, Zeynep Tümer, Daniella Bach Holm, Anne-Marie Bisgaard, Kessel Line
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report. Ophthalmic genetics 45 (3) (2024)