237 related articles for article (PubMed ID: 23646827)
1. 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]
2. 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]
3. A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Roos L; Fang M; Dali C; Jensen H; Christoffersen N; Wu B; Zhang J; Xu R; Harris P; Xu X; Grønskov K; Tümer Z
Clin Genet; 2014 Sep; 86(3):276-81. PubMed ID: 24024553
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Semerci CN; Kalay E; Yıldırım C; Dinçer T; Olmez A; Toraman B; Koçyiğit A; Bulgu Y; Okur V; Satıroğlu-Tufan L; Akarsu NA
Br J Ophthalmol; 2014 Jun; 98(6):832-40. PubMed ID: 24568872
[TBL] [Abstract][Full Text] [Related]
6. Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J; Brémond-Gignac D; Demeer B; Gaston V; Verloes A; Fares-Taie L; Gerber S; Rozet JM; Calvas P; Chassaing N
Eur J Med Genet; 2016 Apr; 59(4):215-8. PubMed ID: 26873617
[TBL] [Abstract][Full Text] [Related]
7. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M; Abouzeid H; Gawdat G; de Preux AS; Xiao T; Bardakjian T; Schneider A; Choi A; Jorgenson E; Baier H; El Sada M; Schorderet DF; Slavotinek AM
Hum Mol Genet; 2013 Aug; 22(16):3250-8. PubMed ID: 23591992
[TBL] [Abstract][Full Text] [Related]
8. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Fares-Taie L; Gerber S; Chassaing N; Clayton-Smith J; Hanein S; Silva E; Serey M; Serre V; Gérard X; Baumann C; Plessis G; Demeer B; Brétillon L; Bole C; Nitschke P; Munnich A; Lyonnet S; Calvas P; Kaplan J; Ragge N; Rozet JM
Am J Hum Genet; 2013 Feb; 92(2):265-70. PubMed ID: 23312594
[TBL] [Abstract][Full Text] [Related]
9. A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.
Mory A; Ruiz FX; Dagan E; Yakovtseva EA; Kurolap A; Parés X; Farrés J; Gershoni-Baruch R
Eur J Hum Genet; 2014 Mar; 22(3):419-22. PubMed ID: 23881059
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.
Piryaei F; Pakmanesh R; Salehirad M; Akbari S; Edizadeh M; Khodadadi H
Eur J Med Genet; 2023 Aug; 66(8):104801. PubMed ID: 37339696
[TBL] [Abstract][Full Text] [Related]
12. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
Bakrania P; Robinson DO; Bunyan DJ; Salt A; Martin A; Crolla JA; Wyatt A; Fielder A; Ainsworth J; Moore A; Read S; Uddin J; Laws D; Pascuel-Salcedo D; Ayuso C; Allen L; Collin JR; Ragge NK
Br J Ophthalmol; 2007 Nov; 91(11):1471-6. PubMed ID: 17522144
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Casey J; Kawaguchi R; Morrissey M; Sun H; McGettigan P; Nielsen JE; Conroy J; Regan R; Kenny E; Cormican P; Morris DW; Tormey P; Chróinín MN; Kennedy BN; Lynch S; Green A; Ennis S
Hum Mutat; 2011 Dec; 32(12):1417-26. PubMed ID: 21901792
[TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.
Chassaing N; Ragge N; Kariminejad A; Buffet A; Ghaderi-Sohi S; Martinovic J; Calvas P
Clin Genet; 2013 Mar; 83(3):244-50. PubMed ID: 22686418
[TBL] [Abstract][Full Text] [Related]
17. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera M; Wert A; Nieto I; Pomares E
Mol Genet Genomic Med; 2017 Nov; 5(6):709-719. PubMed ID: 29178648
[TBL] [Abstract][Full Text] [Related]
18. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Pedace L; Castori M; Binni F; Pingi A; Grammatico B; Scommegna S; Majore S; Grammatico P
Eur J Med Genet; 2009; 52(4):273-6. PubMed ID: 19254784
[TBL] [Abstract][Full Text] [Related]
19. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
Akbar W; Ullah A; Haider N; Suleman S; Khan FU; Shah AA; Sikandar MA; Basit S; Ahmad W
J Gene Med; 2024 Jan; 26(1):e3601. PubMed ID: 37758467
[TBL] [Abstract][Full Text] [Related]
20. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A; Bakrania P; Bunyan DJ; Osborne RJ; Crolla JA; Salt A; Ayuso C; Newbury-Ecob R; Abou-Rayyah Y; Collin JR; Robinson D; Ragge N
Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
