BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 24568872)

  • 1. 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]  

  • 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. 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. 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. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 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. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?
    Ng D; Hadley DW; Tifft CJ; Biesecker LG
    Am J Med Genet; 2002 Jul; 110(4):308-14. PubMed ID: 12116202
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RNA-based mutation screening in German families with Sjögren-Larsson syndrome.
    Kraus C; Braun-Quentin C; Ballhausen WG; Pfeiffer RA
    Eur J Hum Genet; 2000 Apr; 8(4):299-306. PubMed ID: 10854114
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF; Jitskii S; Buentello-Volante B; Quevedo-Martinez J; Zenteno JC
    Gene; 2013 Oct; 528(2):178-82. PubMed ID: 23900199
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
    Smaoui N; Beltaief O; BenHamed S; M'Rad R; Maazoul F; Ouertani A; Chaabouni H; Hejtmancik JF
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2716-21. PubMed ID: 15277496
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.