Microphthalmia[title] AND "loattrfree full text"[sb] AND "humans"[MeSH Terms] NOT review[pt] - Search Results

Year	Number of Results
1954	1
1981	1
1990	3
1991	2
1994	2
1995	3
1996	1
1997	4
1998	12
1999	4
2000	5
2001	4
2002	6
2003	3
2004	5
2005	6
2006	7
2007	4
2008	7
2009	12
2010	15
2011	9
2012	9
2013	10
2014	19
2015	19
2016	11
2017	12
2018	11
2019	12
2020	12
2021	12
2022	8
2023	10
2024	3

1

Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.

Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M. Taha Najim R, et al. Acta Ophthalmol. 2020 Dec;98(8):848-858. doi: 10.1111/aos.14427. Epub 2020 May 21. Acta Ophthalmol. 2020. PMID: 32436650 Free article.

2

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. Kesim Y, et al. Eur J Hum Genet. 2023 Oct;31(10):1175-1180. doi: 10.1038/s41431-023-01342-8. Epub 2023 Mar 31. Eur J Hum Genet. 2023. PMID: 36997679 Free PMC article.

3

Associated anomalies in anophthalmia and microphthalmia.

Stoll C, Dott B, Alembik Y, Roth MP. Stoll C, et al. Eur J Med Genet. 2024 Feb;67:104892. doi: 10.1016/j.ejmg.2023.104892. Epub 2023 Dec 16. Eur J Med Genet. 2024. PMID: 38110175 Free article.

4

Microphthalmia-Associated Transcription Factor: A Differentiation Marker in Uveal Melanoma.

Gelmi MC, Verdijk RM, Houtzagers LE, van der Velden PA, Kroes WGM, Luyten GPM, Vu THK, Jager MJ. Gelmi MC, et al. Int J Mol Sci. 2023 May 16;24(10):8861. doi: 10.3390/ijms24108861. Int J Mol Sci. 2023. PMID: 37240204 Free PMC article.

5

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.

Harding P, Gore S, Malka S, Rajkumar J, Oluonye N, Moosajee M. Harding P, et al. Br J Ophthalmol. 2023 Nov 22;107(12):1925-1935. doi: 10.1136/bjo-2022-321991. Br J Ophthalmol. 2023. PMID: 36192130 Free PMC article.

6

EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

Harding P, Toms M, Schiff E, Owen N, Bell S, Lloyd IC, Moosajee M. Harding P, et al. Int J Mol Sci. 2021 Feb 22;22(4):2190. doi: 10.3390/ijms22042190. Int J Mol Sci. 2021. PMID: 33671840 Free PMC article.

7

Identification of missense MAB21L1 variants in microphthalmia and aniridia.

Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV. Seese SE, et al. Hum Mutat. 2021 Jul;42(7):877-890. doi: 10.1002/humu.24218. Epub 2021 May 24. Hum Mutat. 2021. PMID: 33973683 Free PMC article.

8

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.

9

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A. Amlie-Wolf L, et al. Am J Med Genet A. 2022 Jan;188(1):187-198. doi: 10.1002/ajmg.a.62518. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562068 Free PMC article.

10

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Deml B, et al. Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1. Eur J Hum Genet. 2016. PMID: 26130484 Free PMC article.

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