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162 results

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Page 1
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Among authors: nicolino m. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
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. Among authors: nicolino m. Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26. Horm Res Paediatr. 2020. PMID: 32454486
Mutant WD-repeat protein in triple-A syndrome.
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C, Bégeot M, Naville D, Nicolino M, Chaussain JL, Weissenbach J, Munnich A, Lyonnet S. Tullio-Pelet A, et al. Among authors: nicolino m. Nat Genet. 2000 Nov;26(3):332-5. doi: 10.1038/81642. Nat Genet. 2000. PMID: 11062474
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N, Saveanu A, Vergier J, Marquant E, Quentien MH, Castinetti F, Galon-Faure N, Brauner R, Marrakchi Turki Z, Tauber M, El Kholy M, Linglart A, Rodien P, Fedala NS, Bergada I, Cortet-Rudelli C, Polak M, Nicolino M, Stuckens C, Barlier A, Brue T, Reynaud R; Genhypopit Network. Jullien N, et al. Among authors: nicolino m. Clin Endocrinol (Oxf). 2021 Feb;94(2):277-289. doi: 10.1111/cen.14355. Epub 2020 Dec 21. Clin Endocrinol (Oxf). 2021. PMID: 33098107
Triple-A syndrome: a wide spectrum of adrenal dysfunction.
Roucher-Boulez F, Brac de la Perriere A, Jacquez A, Chau D, Guignat L, Vial C, Morel Y, Nicolino M, Raverot G, Pugeat M. Roucher-Boulez F, et al. Among authors: nicolino m. Eur J Endocrinol. 2018 Mar;178(3):199-207. doi: 10.1530/EJE-17-0642. Epub 2017 Dec 13. Eur J Endocrinol. 2018. PMID: 29237697
Reference values for the external genitalia of full-term and pre-term female neonates.
Castets S, Nguyen KA, Plaisant F, Prudon MB, Plotton I, Kassai B, Roche S, Ecochard R, Claris O, Nicolino M, Villanueva C, Gay CL. Castets S, et al. Among authors: nicolino m. Arch Dis Child Fetal Neonatal Ed. 2021 Jan;106(1):39-44. doi: 10.1136/archdischild-2019-318090. Epub 2020 Jun 19. Arch Dis Child Fetal Neonatal Ed. 2021. PMID: 32561564
The virilized female: endocrine background.
Forest MG, Nicolino M, David M, Morel Y. Forest MG, et al. Among authors: nicolino m. BJU Int. 2004 May;93 Suppl 3:35-43. doi: 10.1111/j.1464-410X.2004.04707.x. BJU Int. 2004. PMID: 15086440 Review. No abstract available.
162 results