Literature DB >> 22834934

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

N K Ragge, G Quaghebeur, H Stewart.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22834934     DOI： 10.1111/j.1399-0004.2012.01922.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  4 in total

1.  SOX2 primes the epigenetic landscape in neural precursors enabling proper gene activation during hippocampal neurogenesis.

Authors:  Alejandro Amador-Arjona; Flavio Cimadamore; Chun-Teng Huang; Rebecca Wright; Susan Lewis; Fred H Gage; Alexey V Terskikh
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-30       Impact factor: 11.205

Review 2.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Authors:  Qing Fang; Akima S George; Michelle L Brinkmeier; Amanda H Mortensen; Peter Gergics; Leonard Y M Cheung; Alexandre Z Daly; Adnan Ajmal; María Ines Pérez Millán; A Bilge Ozel; Jacob O Kitzman; Ryan E Mills; Jun Z Li; Sally A Camper
Journal:  Endocr Rev       Date:  2016-11-09       Impact factor: 19.871

3.  Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Authors:  Louise Amlie-Wolf; Tanya Bardakjian; Sarina M Kopinsky; Linda M Reis; Elena V Semina; Adele Schneider
Journal:  Am J Med Genet A       Date:  2021-09-25       Impact factor: 2.578

4.  Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Authors:  Brett Deml; Linda M Reis; Emmanuelle Lemyre; Robin D Clark; Ariana Kariminejad; Elena V Semina
Journal:  Eur J Hum Genet       Date:  2015-07-01       Impact factor: 4.246
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.