PubMed for Bookshelf ID: 1470484

Year	Number of Results
1983	1
2002	1
2003	3
2005	1
2006	2
2007	1
2008	1
2009	3
2010	1
2011	1
2013	1
2014	1
2016	1
2017	2
2018	2
2019	1
2020	2
2024	0

1

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

2

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Castets S, Roucher-Boulez F, Saveanu A, Mallet-Motak D, Chabre O, Amati-Bonneau P, Bonneau D, Girardin C, Morel Y, Villanueva C, Brue T, Reynaud R, Nicolino M. Castets S, et al. Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26. Horm Res Paediatr. 2020. PMID: 32454486

3

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations.

Bunyan DJ, Thomas NS. Bunyan DJ, et al. Eur J Med Genet. 2019 Jul;62(7):103668. doi: 10.1016/j.ejmg.2019.05.007. Epub 2019 May 8. Eur J Med Genet. 2019. PMID: 31077882

4

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M. Huhtaniemi I, et al. Trends Endocrinol Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26. Trends Endocrinol Metab. 2018. PMID: 29706485 Free article. Review.

5

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.

Yang L, Li T, Xing Y. Yang L, et al. Mol Med Rep. 2017 Oct;16(4):5529-5532. doi: 10.3892/mmr.2017.7226. Epub 2017 Aug 10. Mol Med Rep. 2017. PMID: 28849110

6

Evaluation and Management of Primary Ovarian Insufficiency in Adolescents and Young Adults.

Kanj RV, Ofei-Tenkorang NA, Altaye M, Gordon CM. Kanj RV, et al. J Pediatr Adolesc Gynecol. 2018 Feb;31(1):13-18. doi: 10.1016/j.jpag.2017.07.005. Epub 2017 Aug 4. J Pediatr Adolesc Gynecol. 2018. PMID: 28782660

7

Primary ovarian insufficiency: different approaches in three cases and a review of literature.

Moreira AM, Spritzer PM. Moreira AM, et al. Endocrinol Diabetes Metab Case Rep. 2016;2016:160026. doi: 10.1530/EDM-16-0026. Epub 2016 May 27. Endocrinol Diabetes Metab Case Rep. 2016. PMID: 27252868 Free PMC article.

8

Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation.

Yang Y, Yang C, Zhu Y, Chen H, Zhao R, He X, Tao L, Wang P, Zhou L, Zhao L, Tu M, Dong Z, Chen H, Xie Z. Yang Y, et al. Genomics. 2014 Sep;104(3):170-6. doi: 10.1016/j.ygeno.2014.07.010. Epub 2014 Jul 30. Genomics. 2014. PMID: 25086333 Free article.

9

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Verdin H, et al. PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516377 Free PMC article.

10

Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis-epicanthus inversus syndrome.

Decock CE, Claerhout I, Leroy BP, Kesteleyn P, Shah AD, De Baere E. Decock CE, et al. Ophthalmic Plast Reconstr Surg. 2011 Sep-Oct;27(5):368-70. doi: 10.1097/IOP.0b013e31821b6c58. Ophthalmic Plast Reconstr Surg. 2011. PMID: 21562436

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