Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Edward Ryan A. Collantes"'
Publikováno v:
Human Molecular Genetics.
Rare missense and nonsense variants in the Angiopoietin-like 7 (ANGPTL7) gene confer protection from primary open-angle glaucoma (POAG), though the functional mechanism remains uncharacterized. Interestingly, larger variant effect size strongly corre
Autor:
Edward Ryan A. Collantes, Manuel S. Delfin, Baojian Fan, Justine May R. Torregosa, Christine Siguan‐Bell, Nilo Vincent de Guzman Florcruz, Jose Maria D. Martinez, Barbara Joy Masna‐Hidalgo, Vincent Paul T. Guzman, Jewel Faith Anotado‐Flores, Faye D. Levina, Sophia Raine C. Hernandez, Anthony A. Collantes, Michael Carreon Sibulo, Shisong Rong, Janey L. Wiggs
Publikováno v:
Hum Mutat
Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with onset before age 40 and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with novel EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1
Autor:
Ma. Carmela B. Guevarra, Michelle Ann B. Eala, Edward Christopher Dee, Gary John V. Mercado, Edward Ryan A. Collantes
Publikováno v:
Eye (London, England). 36(12)
Autor:
Manuel Jr. Delfin, Vincent Guzman, Shi Song Rong, Barbara Masna-Hidalgo, Anthony Collantes, Faye Levina, Michael Sibulo, Janey L. Wiggs, Nilo Florcruz, Sophia Hernandez, Baojian Fan, Justine Torregosa, José William Martínez, Christine Siguan-Bell, Edward Ryan Avena Collantes, Jewel Anotado-Flores
Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with childhood onset and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with rare EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1480T>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44a92553bc5d532a1f958af1f4d3757b
https://doi.org/10.22541/au.162673232.22241174/v1
https://doi.org/10.22541/au.162673232.22241174/v1
Autor:
Edward Ryan Avena Collantes, Leo Dp Cubillan, Patricia E. Cabrera, Michelle D Lingao, Patrick R Ching
Publikováno v:
Essentials in Ophthalmology ISBN: 9789811308833
The Philippines is a developing nation in Southeast Asia and is home to over 100 different ethnolinguistic groups. As in other countries, genetic eye diseases in the Philippines are rare but collectively represent a significant cause of blindness. Al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d038aa79d5db2745c087901cdeff294
https://doi.org/10.1007/978-981-13-0884-0_9
https://doi.org/10.1007/978-981-13-0884-0_9