Similar articles for PMID: 23591992

Year	Number of Results
1969	1
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2002	3
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2024	1

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. Yahyavi M, et al. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591992 Free PMC article.

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. Lin S, et al. BMC Med Genet. 2018 Sep 10;19(1):160. doi: 10.1186/s12881-018-0678-6. BMC Med Genet. 2018. PMID: 30200890 Free PMC article.

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. Abouzeid H, et al. Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3. Hum Mutat. 2014. PMID: 24777706

4

Mutations in ALDH1A3 cause microphthalmia.

Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Aldahmesh MA, et al. Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27. Clin Genet. 2013. PMID: 23646827

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. Fares-Taie L, et al. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. Am J Hum Genet. 2013. PMID: 23312594 Free PMC article.

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. Semerci CN, et al. Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25. Br J Ophthalmol. 2014. PMID: 24568872

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. Mory A, et al. Eur J Hum Genet. 2014 Mar;22(3):419-22. doi: 10.1038/ejhg.2013.157. Epub 2013 Jul 24. Eur J Hum Genet. 2014. PMID: 23881059 Free PMC article.

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. Plaisancié J, et al. Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. Eur J Med Genet. 2016. PMID: 26873617

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. Srour M, et al. Am J Hum Genet. 2013 Oct 3;93(4):765-72. doi: 10.1016/j.ajhg.2013.08.014. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075189 Free PMC article.

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. Roos L, et al. Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25. Clin Genet. 2014. PMID: 24024553

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