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The phenotypic spectrum associated with OTX2 mutations in humans.
Gregory LC, Gergics P, Nakaguma M, Bando H, Patti G, McCabe MJ, Fang Q, Ma Q, Ozel AB, Li JZ, Poina MM, Jorge AAL, Benedetti AFF, Lerario AM, Arnhold IJP, Mendonca BB, Maghnie M, Camper SA, Carvalho LRS, Dattani MT. Gregory LC, et al. Among authors: gergics p. Eur J Endocrinol. 2021 May 25;185(1):121-135. doi: 10.1530/EJE-20-1453. Eur J Endocrinol. 2021. PMID: 33950863 Free PMC article.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA. Fang Q, et al. Among authors: gergics p. Endocr Rev. 2016 Dec;37(6):636-675. doi: 10.1210/er.2016-1101. Epub 2016 Nov 9. Endocr Rev. 2016. PMID: 27828722 Free PMC article. Review.
ISL1 Is Necessary for Maximal Thyrotrope Response to Hypothyroidism.
Castinetti F, Brinkmeier ML, Mortensen AH, Vella KR, Gergics P, Brue T, Hollenberg AN, Gan L, Camper SA. Castinetti F, et al. Among authors: gergics p. Mol Endocrinol. 2015 Oct;29(10):1510-21. doi: 10.1210/me.2015-1192. Epub 2015 Aug 21. Mol Endocrinol. 2015. PMID: 26296153 Free PMC article.
Pituitary gland development and disease: from stem cell to hormone production.
Davis SW, Ellsworth BS, Peréz Millan MI, Gergics P, Schade V, Foyouzi N, Brinkmeier ML, Mortensen AH, Camper SA. Davis SW, et al. Among authors: gergics p. Curr Top Dev Biol. 2013;106:1-47. doi: 10.1016/B978-0-12-416021-7.00001-8. Curr Top Dev Biol. 2013. PMID: 24290346 Free PMC article. Review.
34 results