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Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG. Elizabeth MSM, et al. Among authors: pfaeffle r. Pituitary. 2021 Apr;24(2):229-241. doi: 10.1007/s11102-020-01101-8. Epub 2020 Nov 13. Pituitary. 2021. PMID: 33184694 Free PMC article. Review.
Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study.
Sävendahl L, Cooke R, Tidblad A, Beckers D, Butler G, Cianfarani S, Clayton P, Coste J, Hokken-Koelega ACS, Kiess W, Kuehni CE, Albertsson-Wikland K, Deodati A, Ecosse E, Gausche R, Giacomozzi C, Konrad D, Landier F, Pfaeffle R, Sommer G, Thomas M, Tollerfield S, Zandwijken GRJ, Carel JC, Swerdlow AJ. Sävendahl L, et al. Among authors: pfaeffle r. Lancet Diabetes Endocrinol. 2020 Aug;8(8):683-692. doi: 10.1016/S2213-8587(20)30163-7. Lancet Diabetes Endocrinol. 2020. PMID: 32707116 Free 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. Among authors: pfaeffle r. 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.
Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.
Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N, Bezlepkina O, Peterkova V, Frisch H, Cinek O, Child CJ, Blum WF, Lebl J. Obermannova B, et al. Among authors: pfaeffle r. Horm Res Paediatr. 2011;76(5):348-54. doi: 10.1159/000332693. Epub 2011 Oct 18. Horm Res Paediatr. 2011. PMID: 22024773
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
Navardauskaite R, Dusatkova P, Obermannova B, Pfaeffle RW, Blum WF, Adukauskiene D, Smetanina N, Cinek O, Verkauskiene R, Lebl J. Navardauskaite R, et al. Among authors: pfaeffle rw. J Clin Endocrinol Metab. 2014 Jan;99(1):299-306. doi: 10.1210/jc.2013-3090. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24178788
38 results