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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR. Nakaguma M, et al. Among authors: arnhold ijp. Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128. Genes (Basel). 2021. PMID: 34440302 Free PMC article.
Androgen insensitivity syndrome: a review.
Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB. Batista RL, et al. Among authors: arnhold ijp. Arch Endocrinol Metab. 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. Arch Endocrinol Metab. 2018. PMID: 29768628 Free PMC article. Review.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma TK, Freire BL, Honjo Kawahira RS, Dauber A, Funari MFA, Lerario AM, Nishi MY, Albuquerque EV, Vasques GA, Collett-Solberg PF, Miura Sugayama SM, Bertola DR, Kim CA, Arnhold IJP, Malaquias AC, Jorge AAL. Homma TK, et al. Among authors: arnhold ijp. J Pediatr. 2019 Dec;215:192-198. doi: 10.1016/j.jpeds.2019.08.024. Epub 2019 Oct 17. J Pediatr. 2019. PMID: 31630891
[Leydig cell hypoplasia].
Latronico AC, Costa EM, Mendonça BB, Arnhold IJ. Latronico AC, et al. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):83-6. doi: 10.1590/s0004-27302005000100011. Epub 2006 Mar 16. Arq Bras Endocrinol Metabol. 2005. PMID: 16544038 Review. Portuguese.
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH, Benedetti AFF, Azevedo BV, de Lima Jorge AA, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, de Carvalho LRS. Labello JH, et al. Among authors: arnhold ijp. Arch Endocrinol Metab. 2022 Mar 8;66(1):104-111. doi: 10.20945/2359-3997000000428. Epub 2022 Jan 13. Arch Endocrinol Metab. 2022. PMID: 35029852 Free PMC article.
126 results