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Page 1
Longevity in untreated congenital growth hormone deficiency due to a homozygous mutation in the GHRH receptor gene.
Aguiar-Oliveira MH, Oliveira FT, Pereira RM, Oliveira CR, Blackford A, Valenca EH, Santos EG, Gois-Junior MB, Meneguz-Moreno RA, Araujo VP, Oliveira-Neto LA, Almeida RP, Santos MA, Farias NT, Silveira DC, Cabral GW, Calazans FR, Seabra JD, Lopes TF, Rodrigues EO, Porto LA, Oliveira IP, Melo EV, Martari M, Salvatori R. Aguiar-Oliveira MH, et al. Among authors: martari m. J Clin Endocrinol Metab. 2010 Feb;95(2):714-21. doi: 10.1210/jc.2009-1879. Epub 2009 Dec 4. J Clin Endocrinol Metab. 2010. PMID: 19965916 Free PMC article.
An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein.
Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. Drori-Herishanu L, et al. Among authors: martari m. Horm Metab Res. 2009 Aug;41(8):630-4. doi: 10.1055/s-0029-1216358. Epub 2009 Apr 23. Horm Metab Res. 2009. PMID: 19391077 Free PMC article.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. Stratakis CA, et al. Among authors: martari m. Clin Genet. 2010 Nov;78(5):457-63. doi: 10.1111/j.1399-0004.2010.01406.x. Clin Genet. 2010. PMID: 20507346 Free PMC article.