Jorge AA - Search Results

1

International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.

Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, Charmandari E, Chernausek SD, Cutfield WS, Dauber A, Deeb A, Goedegebuure WJ, Hofman PL, Isganatis E, Jorge AA, Kanaka-Gantenbein C, Kashimada K, Khadilkar V, Luo XP, Mathai S, Nakano Y, Yau M. Hokken-Koelega ACS, et al. Among authors: jorge aa. Endocr Rev. 2023 May 8;44(3):539-565. doi: 10.1210/endrev/bnad002. Endocr Rev. 2023. PMID: 36635911 Free PMC article.

2

Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.

Griffero M, Benedetti AFF, Pérez M, Carvalho L, Jorge A, Latronico AC, Mendonca B, Arnhold I, Mericq V. Griffero M, et al. J Pediatr Endocrinol Metab. 2022 Mar 24;35(6):831-835. doi: 10.1515/jpem-2021-0719. Print 2022 Jun 27. J Pediatr Endocrinol Metab. 2022. PMID: 35320640

3

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

da Silva FM, Jorge AA, Malaquias A, da Costa Pereira A, Yamamoto GL, Kim CA, Bertola D. da Silva FM, et al. Among authors: jorge aa. Am J Med Genet A. 2016 Jun;170(6):1525-31. doi: 10.1002/ajmg.a.37639. Epub 2016 Apr 1. Am J Med Genet A. 2016. PMID: 27038324

4

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review.

Dantas NCB, Braz AF, Malaquias A, Lemos-Marini S, Arnhold IJP, Silveira ER, Antonini SR, Guerra-Junior G, Mendonca B, Jorge A, Scalco RC. Dantas NCB, et al. Horm Res Paediatr. 2021;94(1-2):63-70. doi: 10.1159/000516869. Epub 2021 Jun 16. Horm Res Paediatr. 2021. PMID: 34134112 Review.

5

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. Bertola D, et al. Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Am J Med Genet A. 2017. PMID: 28211982 Review.

6

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

Gomes NL, Batista RL, Nishi MY, Lerário AM, Silva TE, de Moraes Narcizo A, Benedetti AFF, de Assis Funari MF, Faria Junior JA, Moraes DR, Quintão LML, Montenegro LR, Ferrari MTM, Jorge AA, Arnhold IJP, Costa EMF, Domenice S, Mendonca BB. Gomes NL, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064. J Clin Endocrinol Metab. 2022. PMID: 35134971

7

[Pheochromocytoma of the urinary bladder, report of a case and review of the literature].

Jorge AA, Lucon AM, Bloise W, Mendonça BB. Jorge AA, et al. Rev Hosp Clin Fac Med Sao Paulo. 1997 Jan-Feb;52(1):28-31. Rev Hosp Clin Fac Med Sao Paulo. 1997. PMID: 9334469 Review. Portuguese.

8

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.

Teles MG, Trarbach EB, Noel SD, Guerra-Junior G, Jorge A, Beneduzzi D, Bianco SD, Mukherjee A, Baptista MT, Costa EM, De Castro M, Mendonça BB, Kaiser UB, Latronico AC. Teles MG, et al. Eur J Endocrinol. 2010 Jul;163(1):29-34. doi: 10.1530/EJE-10-0012. Epub 2010 Apr 6. Eur J Endocrinol. 2010. PMID: 20371656

9

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression.

Ribeiro TC, Jorge AA, Almeida MQ, Mariani BM, Nishi MY, Mendonca BB, Fragoso MC, Latronico AC. Ribeiro TC, et al. Among authors: jorge aa. Biomed Res Int. 2014;2014:936031. doi: 10.1155/2014/936031. Epub 2014 Jul 10. Biomed Res Int. 2014. PMID: 25110710 Free PMC article. Clinical Trial.

10

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB. Melo KF, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. doi: 10.1210/jcem.87.6.8521. J Clin Endocrinol Metab. 2002. PMID: 12050205 Review.

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