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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. Among authors: lerario am. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.
Almeida MQ, Soares IC, Ribeiro TC, Fragoso MC, Marins LV, Wakamatsu A, Ressio RA, Nishi MY, Jorge AA, Lerario AM, Alves VA, Mendonca BB, Latronico AC. Almeida MQ, et al. Among authors: lerario am. J Clin Endocrinol Metab. 2010 Mar;95(3):1458-62. doi: 10.1210/jc.2009-2040. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080844
ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.
Alencar GA, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P, Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, Fragoso MC. Alencar GA, et al. Among authors: lerario am. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708098
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
Caetano LA, Santana LS, Costa-Riquetto AD, Lerario AM, Nery M, Nogueira GF, Ortega CD, Rocha MS, Jorge AAL, Teles MG. Caetano LA, et al. Among authors: lerario am. Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19. Clin Genet. 2018. PMID: 28436541 Free article.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE. Hisado-Oliva A, et al. Among authors: lerario am. Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28. Genet Med. 2018. PMID: 28661490 Free article.
133 results