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Noonan syndrome: Severe phenotype and PTPN11 mutations.
Carrasco Salas P, Gómez-Molina G, Carreto-Alba P, Granell-Escobar R, Vázquez-Rico I, León-Justel A. Carrasco Salas P, et al. Med Clin (Barc). 2019 Jan 18;152(2):62-64. doi: 10.1016/j.medcli.2018.03.015. Epub 2018 Apr 25. Med Clin (Barc). 2019. PMID: 29703613 English, Spanish.
Unusual clinical presentation and new mutation in a case of triple A syndrome.
López Valverde ME, Rebollo Pérez MI, Martínez Fernández EM, Murillo Espejo E, Carrasco Salas P. López Valverde ME, et al. Among authors: carrasco salas p. Endocrinol Diabetes Nutr (Engl Ed). 2022 May;69(5):382-384. doi: 10.1016/j.endien.2022.04.002. Epub 2022 May 13. Endocrinol Diabetes Nutr (Engl Ed). 2022. PMID: 35570138 No abstract available.
Unusual clinical presentation and new mutation in a case of triple A syndrome.
López Valverde ME, Rebollo Pérez MI, Martínez Fernández EM, Murillo Espejo E, Carrasco Salas P. López Valverde ME, et al. Among authors: carrasco salas p. Endocrinol Diabetes Nutr (Engl Ed). 2021 Jul 12:S2530-0164(21)00153-1. doi: 10.1016/j.endinu.2021.03.006. Online ahead of print. Endocrinol Diabetes Nutr (Engl Ed). 2021. PMID: 34266807 English, Spanish. No abstract available.
Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.
Torres Aguilar MR, Carrasco Salas P, Santos Rosa C, Bueno Rodríguez G, Martínez-Bonet E, Carreto Alba P, León-Justel A, Granell Escobar MR. Torres Aguilar MR, et al. Among authors: carrasco salas p. Taiwan J Obstet Gynecol. 2021 Jul;60(4):745-751. doi: 10.1016/j.tjog.2021.05.028. Taiwan J Obstet Gynecol. 2021. PMID: 34247818 Free article.
Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.
Carrasco Salas P, Palma Milla C, Lezana Rosales JM, Benito C, Franco Freire S, López Siles J. Carrasco Salas P, et al. Am J Med Genet A. 2016 Feb;170A(2):544-546. doi: 10.1002/ajmg.a.37440. Epub 2015 Oct 21. Am J Med Genet A. 2016. PMID: 26487424 No abstract available.
[Genetic predisposition to childhood cancer].
Carrasco Salas P, Lapunzina P, Pérez-Martínez A. Carrasco Salas P, et al. An Pediatr (Barc). 2017 Sep;87(3):125-127. doi: 10.1016/j.anpedi.2017.01.011. Epub 2017 Mar 7. An Pediatr (Barc). 2017. PMID: 28283310 Free article. Spanish. No abstract available.
12 results