These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Iseri SU; Wyatt AW; Nürnberg G; Kluck C; Nürnberg P; Holder GE; Blair E; Salt A; Ragge NK Hum Genet; 2010 Jul; 128(1):51-60. PubMed ID: 20414678 [TBL] [Abstract][Full Text] [Related]
5. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia. Habibi I; Youssef M; Marzouk E; El Shakankiri N; Gawdat G; El Sada M; F Schorderet D; Abou Zeid H Adv Exp Med Biol; 2019; 1185():221-226. PubMed ID: 31884615 [TBL] [Abstract][Full Text] [Related]
6. Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation. Khan AO; Aldahmesh MA; Noor J; Salem A; Alkuraya FS Ophthalmic Genet; 2015 Mar; 36(1):8-13. PubMed ID: 24001013 [TBL] [Abstract][Full Text] [Related]
7. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Voronina VA; Kozhemyakina EA; O'Kernick CM; Kahn ND; Wenger SL; Linberg JV; Schneider AS; Mathers PH Hum Mol Genet; 2004 Feb; 13(3):315-22. PubMed ID: 14662654 [TBL] [Abstract][Full Text] [Related]
8. Confirmation of RAX gene involvement in human anophthalmia. Lequeux L; Rio M; Vigouroux A; Titeux M; Etchevers H; Malecaze F; Chassaing N; Calvas P Clin Genet; 2008 Oct; 74(4):392-5. PubMed ID: 18783408 [TBL] [Abstract][Full Text] [Related]
9. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Bar-Yosef U; Abuelaish I; Harel T; Hendler N; Ofir R; Birk OS Hum Genet; 2004 Sep; 115(4):302-9. PubMed ID: 15257456 [TBL] [Abstract][Full Text] [Related]
10. Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. Lin S; Harlalka GV; Hameed A; Reham HM; Yasin M; Muhammad N; Khan S; Baple EL; Crosby AH; Saleha S BMC Med Genet; 2018 Sep; 19(1):160. PubMed ID: 30200890 [TBL] [Abstract][Full Text] [Related]
11. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Desmaison A; Vigouroux A; Rieubland C; Peres C; Calvas P; Chassaing N Mol Vis; 2010 Dec; 16():2847-9. PubMed ID: 21203406 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Marcadier JL; Mears AJ; Woods EA; Fisher J; Airheart C; Qin W; Beaulieu CL; Dyment DA; Innes AM; Curry CJ; Am J Med Genet A; 2016 Jan; 170A(1):11-8. PubMed ID: 26373900 [TBL] [Abstract][Full Text] [Related]
13. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. Chassaing N; Causse A; Vigouroux A; Delahaye A; Alessandri JL; Boespflug-Tanguy O; Boute-Benejean O; Dollfus H; Duban-Bedu B; Gilbert-Dussardier B; Giuliano F; Gonzales M; Holder-Espinasse M; Isidor B; Jacquemont ML; Lacombe D; Martin-Coignard D; Mathieu-Dramard M; Odent S; Picone O; Pinson L; Quelin C; Sigaudy S; Toutain A; Thauvin-Robinet C; Kaplan J; Calvas P Clin Genet; 2014 Oct; 86(4):326-34. PubMed ID: 24033328 [TBL] [Abstract][Full Text] [Related]
14. Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. Zhou J; Kherani F; Bardakjian TM; Katowitz J; Hughes N; Schimmenti LA; Schneider A; Young TL Mol Vis; 2008 Mar; 14():583-92. PubMed ID: 18385794 [TBL] [Abstract][Full Text] [Related]
15. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. Vidya NG; Rajkumar S; Vasavada AR Ophthalmic Genet; 2018 Jun; 39(3):344-352. PubMed ID: 29461140 [TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia. Ammar THA; Ismail S; Mansour OAA; El-Shafey MM; Doghish AS; Kamal AM; Abdel-Salam GMH Ophthalmic Genet; 2017; 38(5):498-500. PubMed ID: 28121235 [No Abstract] [Full Text] [Related]
17. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. Faiyaz-Ul-Haque M; Zaidi SH; Al-Mureikhi MS; Peltekova I; Tsui LC; Teebi AS Clin Genet; 2007 Aug; 72(2):164-6. PubMed ID: 17661825 [No Abstract] [Full Text] [Related]
18. Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. Chassaing N; Vigouroux A; Calvas P Genet Test Mol Biomarkers; 2009 Jun; 13(3):289-90. PubMed ID: 19397404 [TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report. Nikuei P; Ph D ; Khashavy Z; Ali Farazi Fard M; Tabasi S; Zeidi B Sc Student A; Pourkashani P; Tabatabaei Z; Eftekhar E; Saberi M; Mahjoubi F Int J Reprod Biomed; 2023 Aug; 21(8):667-672. PubMed ID: 37885978 [TBL] [Abstract][Full Text] [Related]
20. Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report. Cheng T; Liu J; Sun W; Song G; Ma H BMC Endocr Disord; 2022 Mar; 22(1):57. PubMed ID: 35255871 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]