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Not Only RET but NF1 and Chromosomal Instability Are Seen in Young Patients with Sporadic Medullary Thyroid Carcinoma.
Castroneves LA, Mangone FRR, Lerario AM, da Cunha Mercante AM, Batista RL, Barros LRC, Ferreira CV, Farias EC, Vanderlei FAB, Maia AL, Nagai MA, Jorge AAL, Hoff AO. Castroneves LA, et al. Among authors: jorge aal. J Endocr Soc. 2024 Mar 30;8(6):bvae059. doi: 10.1210/jendso/bvae059. eCollection 2024 Apr 6. J Endocr Soc. 2024. PMID: 38655100 Free PMC article.
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG. Amato LGL, et al. Among authors: jorge aal. Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764. Eur J Endocrinol. 2019. PMID: 31200363
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
da Silva TE, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AAL, Elias FM, Mitchell R, Costa EMF, Mendonca BB, Domenice S. da Silva TE, et al. Among authors: jorge aal. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5923-5934. doi: 10.1210/jc.2019-00984. J Clin Endocrinol Metab. 2019. PMID: 31287541
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Tolezano GC, Bastos GC, da Costa SS, Scliar MO, de Souza CFM, Van Der Linden H Jr, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AAL, Bertola DR, Krepischi ACV. Tolezano GC, et al. Among authors: jorge aal. Mol Neurobiol. 2024 Jan 5. doi: 10.1007/s12035-023-03894-8. Online ahead of print. Mol Neurobiol. 2024. PMID: 38180615
Development of A Minimum Dataset for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy Use in Children with Growth Hormone Deficiency (GHD) - A GloBE-Reg Initiative.
Chen SC, Bryce J, Chen M, Charmandari E, Choi JH, Dou X, Gong C, Hamza R, Harvey J, Hoffman AR, Horikawa R, Johannson G, Jorge AAL, Miller BS, Roehrich S, Sävendahl L, Tseretopoulou X, Vitali D, Wajnrajch M, Ahmed SF. Chen SC, et al. Among authors: jorge aal. Horm Res Paediatr. 2023 Sep 13. doi: 10.1159/000533763. Online ahead of print. Horm Res Paediatr. 2023. PMID: 37703843 Free article.
157 results