191 related articles for article (PubMed ID: 21976963)
1. VSX2 mutations in autosomal recessive microphthalmia.
Reis LM; Khan A; Kariminejad A; Ebadi F; Tyler RC; Semina EV
Mol Vis; 2011; 17():2527-32. PubMed ID: 21976963
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. RAX and anophthalmia in humans: evidence of brain anomalies.
Abouzeid H; Youssef MA; Bayoumi N; ElShakankiri N; Marzouk I; Hauser P; Schorderet DF
Mol Vis; 2012; 18():1449-56. PubMed ID: 22736936
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Ferda Percin E; Ploder LA; Yu JJ; Arici K; Horsford DJ; Rutherford A; Bapat B; Cox DW; Duncan AM; Kalnins VI; Kocak-Altintas A; Sowden JC; Traboulsi E; Sarfarazi M; McInnes RR
Nat Genet; 2000 Aug; 25(4):397-401. PubMed ID: 10932181
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Mutations in ALDH1A3 cause microphthalmia.
Aldahmesh MA; Khan AO; Hijazi H; Alkuraya FS
Clin Genet; 2013 Aug; 84(2):128-31. PubMed ID: 23646827
[TBL] [Abstract][Full Text] [Related]
12. Genetic analysis of consanguineous families presenting with congenital ocular defects.
Ullah E; Nadeem Saqib MA; Sajid S; Shah N; Zubair M; Khan MA; Ahmed I; Ali G; Dutta AK; Danda S; Lao R; Ling-Fung Tang P; Kwok PY; Ansar M; Slavotinek A
Exp Eye Res; 2016 May; 146():163-171. PubMed ID: 26995144
[TBL] [Abstract][Full Text] [Related]
13. FOXE3 plays a significant role in autosomal recessive microphthalmia.
Reis LM; Tyler RC; Schneider A; Bardakjian T; Stoler JM; Melancon SB; Semina EV
Am J Med Genet A; 2010 Mar; 152A(3):582-90. PubMed ID: 20140963
[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. Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA binding.
Zou C; Levine EM
PLoS Genet; 2012 Sep; 8(9):e1002924. PubMed ID: 23028343
[TBL] [Abstract][Full Text] [Related]
16. Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.
Clark AM; Yun S; Veien ES; Wu YY; Chow RL; Dorsky RI; Levine EM
Brain Res; 2008 Feb; 1192():99-113. PubMed ID: 17919464
[TBL] [Abstract][Full Text] [Related]
17. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
Ali M; Buentello-Volante B; McKibbin M; Rocha-Medina JA; Fernandez-Fuentes N; Koga-Nakamura W; Ashiq A; Khan K; Booth AP; Williams G; Raashid Y; Jafri H; Rice A; Inglehearn CF; Zenteno JC
Mol Vis; 2010 Jun; 16():1162-8. PubMed ID: 20664696
[TBL] [Abstract][Full Text] [Related]
18. Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Abouzeid H; Favez T; Schmid A; Agosti C; Youssef M; Marzouk I; El Shakankiry N; Bayoumi N; Munier FL; Schorderet DF
Hum Mutat; 2014 Aug; 35(8):949-53. PubMed ID: 24777706
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]