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Page 1
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
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.
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.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Among authors: jorge aal. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
Duckett K, Williamson A, Kincaid JWR, Rainbow K, Corbin LJ, Martin HC, Eberhardt RY, Huang QQ, Hurles ME, He W, Brauner R, Delaney A, Dunkel L, Grinspon RP, Hall JE, Hirschhorn JN, Howard SR, Latronico AC, Jorge AAL, McElreavey K, Mericq V, Merino PM, Palmert MR, Plummer L, Rey RA, Rezende RC, Seminara SB, Salnikov K, Banerjee I, Lam BYH, Perry JRB, Timpson NJ, Clayton P, Chan YM, Ong KK, O'Rahilly S. Duckett K, et al. Among authors: jorge aal. J Clin Endocrinol Metab. 2023 Nov 17;108(12):e1580-e1587. doi: 10.1210/clinem/dgad373. J Clin Endocrinol Metab. 2023. PMID: 37339320 Free PMC article.
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP, Madeira JLO, Gergics P, Kertsz R, Marques JM, Trigueiro NSS, Benedetti AFF, Azevedo BV, Fernandes BHV, Bissegatto DD, Biscotto IP, Fang Q, Ma Q, Ozel AB, Li J, Camper SA, Jorge AAL, Mendonça BB, Arnhold IJP, Carvalho LR. Ferreira NGBP, et al. Among authors: jorge aal. Endocr Connect. 2023 Jul 5;12(8):e220473. doi: 10.1530/EC-22-0473. Endocr Connect. 2023. PMID: 37166408 Free PMC article.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Harris SC, Chong K, Chitayat D, Gilmore KL, Jorge AAL, Freire BL, Lerario A, Shannon P, Cope H, Gallentine WB, Le Guyader G, Bilan F, Létard P, Davis EE, Vora NL. Harris SC, et al. Among authors: jorge aal. Am J Med Genet A. 2023 May;191(5):1282-1292. doi: 10.1002/ajmg.a.63150. Epub 2023 Feb 24. Am J Med Genet A. 2023. PMID: 36826837 Free PMC article. Review.
156 results