Jorge A - Search Results

1

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. Among authors: jorge a. 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.

2

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

3

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.

4

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. Among authors: jorge a. 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

5

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Hisado-Oliva A, Garre-Vázquez AI, Santaolalla-Caballero F, Belinchón A, Barreda-Bonis AC, Vasques GA, Ramirez J, Luzuriaga C, Carlone G, González-Casado I, Benito-Sanz S, Jorge AA, Campos-Barros A, Heath KE. Hisado-Oliva A, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2015 Aug;100(8):E1133-42. doi: 10.1210/jc.2015-1612. Epub 2015 Jun 15. J Clin Endocrinol Metab. 2015. PMID: 26075495

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

Effects of Type 1 Insulin-Like Growth Factor Receptor Silencing in a Human Adrenocortical Cell Line.

Ribeiro TC, Jorge AA, Montenegro LR, Almeida MQ, Ferraz-de-Souza B, Nishi MY, Mendonca BB, Latronico AC. Ribeiro TC, et al. Among authors: jorge aa. Horm Metab Res. 2016 Jul;48(7):484-8. doi: 10.1055/s-0042-108196. Epub 2016 May 31. Horm Metab Res. 2016. PMID: 27246621

8

[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.

9

Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor.

Lin CJ, Jorge AA, Latronico AC, Marui S, Fragoso MC, Martin RM, Carvalho FM, Arnhold IJ, Mendonca BB. Lin CJ, et al. Among authors: jorge aa. J Clin Endocrinol Metab. 2000 Mar;85(3):1211-4. doi: 10.1210/jcem.85.3.6454. J Clin Endocrinol Metab. 2000. PMID: 10720064

10

Poor reproducibility of IGF-I and IGF binding protein-3 generation test in children with short stature and normal coding region of the GH receptor gene.

Jorge AA, Souza SC, Arnhold IJ, Mendonca BB. Jorge AA, et al. J Clin Endocrinol Metab. 2002 Feb;87(2):469-72. doi: 10.1210/jcem.87.2.8191. J Clin Endocrinol Metab. 2002. PMID: 11836270

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