BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

264 related articles for article (PubMed ID: 23591992)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
    Srour M; Chitayat D; Caron V; Chassaing N; Bitoun P; Patry L; Cordier MP; Capo-Chichi JM; Francannet C; Calvas P; Ragge N; Dobrzeniecka S; Hamdan FF; Rouleau GA; Tremblay A; Michaud JL
    Am J Hum Genet; 2013 Oct; 93(4):765-72. PubMed ID: 24075189
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
    Kesim Y; Ceroni F; Damián A; Blanco-Kelly F; Ayuso C; Williamson K; Paquis-Flucklinger V; Bax DA; Plaisancié J; Rieubland C; Chamlal M; Cortón M; Chassaing N; Calvas P; Ragge NK
    Eur J Hum Genet; 2023 Oct; 31(10):1175-1180. PubMed ID: 36997679
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
    Slavotinek AM; Garcia ST; Chandratillake G; Bardakjian T; Ullah E; Wu D; Umeda K; Lao R; Tang PL; Wan E; Madireddy L; Lyalina S; Mendelsohn BA; Dugan S; Tirch J; Tischler R; Harris J; Clark MJ; Chervitz S; Patwardhan A; West JM; Ursell P; de Alba Campomanes A; Schneider A; Kwok PY; Baranzini S; Chen RO
    Clin Genet; 2015 Nov; 88(5):468-73. PubMed ID: 25457163
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
    Deml B; Reis LM; Lemyre E; Clark RD; Kariminejad A; Semina EV
    Eur J Hum Genet; 2016 Apr; 24(4):535-41. PubMed ID: 26130484
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.
    White T; Lu T; Metlapally R; Katowitz J; Kherani F; Wang TY; Tran-Viet KN; Young TL
    Mol Vis; 2008; 14():2458-65. PubMed ID: 19112531
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
    Chao R; Nevin L; Agarwal P; Riemer J; Bai X; Delaney A; Akana M; JimenezLopez N; Bardakjian T; Schneider A; Chassaing N; Schorderet DF; FitzPatrick D; Kwok PY; Ellgaard L; Gould DB; Zhang Y; Malicki J; Baier H; Slavotinek A
    PLoS One; 2010 May; 5(5):e10565. PubMed ID: 20485507
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 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. 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]  

    [Next]    [New Search]
    of 14.