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Page 1
Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.
Ramírez-Hernández MA, Figuera LE, Rizo-de la Torre LC, Mendoza-Ruvalcaba MTMSC, Arnaud-López L, García-Ortiz JE, Zúñiga-González GM, Puebla-Pérez AM, Gómez-Meda BC, Gallegos-Arreola MP. Ramírez-Hernández MA, et al. Among authors: arnaud lopez l. Eur Rev Med Pharmacol Sci. 2022 Jul;26(14):5115-5127. doi: 10.26355/eurrev_202207_29300. Eur Rev Med Pharmacol Sci. 2022. PMID: 35916809 Free article.
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability.
Rangel-Sosa MM, Figuera-Villanueva LE, González-Ramos IA, Pérez-Páramo YX, Martínez-Jacobo LA, Arnaud-López L, Nastasi-Catanese JA, Rivas-Estilla AM, Galán-Huerta KA, Rojas-Martínez A, Ortiz-López R, Córdova-Fletes C. Rangel-Sosa MM, et al. Among authors: arnaud lopez l. Clin Genet. 2018 Jun;93(6):1229-1233. doi: 10.1111/cge.13235. Epub 2018 Mar 9. Clin Genet. 2018. PMID: 29437235
GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
Brambila-Tapia AJL, García-Ortiz JE, Brouillard P, Nguyen HL, Vikkula M, Ríos-González BE, Sandoval-Muñiz RJ, Sandoval-Talamantes AK, Bobadilla-Morales L, Corona-Rivera JR, Arnaud-Lopez L. Brambila-Tapia AJL, et al. Among authors: arnaud lopez l. Hematology. 2017 Sep;22(8):467-471. doi: 10.1080/10245332.2017.1294551. Epub 2017 Mar 8. Hematology. 2017. PMID: 28271814
Association between the Xba I polymorphism of APOB gene and plasma lipid level in Mexican patients with coronary artery disease.
Gallegos-Arreola MP, Valdez Y, Zúñiga-Corona M, Figuera LE, Arnaud-López L, Robles-Cervantes JA, González-Ortiz M, Martínez-Abundis E, Puebla-Pérez AM, Zúñiga-González GM. Gallegos-Arreola MP, et al. Among authors: arnaud lopez l. Asia Pac J Clin Nutr. 2012;21(2):312-8. Asia Pac J Clin Nutr. 2012. PMID: 22507620 Free article.
Agenesis of the vocal cords in a female infant with Robin sequence.
Corona-Rivera JR, Yanowsky-Reyes G, Arnaud-López L, Bobadilla-Morales L, Aguirre-Guillén RL, Jasso-Bernal JE, Corona-Rivera A, Aguirre-Jáuregui O. Corona-Rivera JR, et al. Among authors: arnaud lopez l. Clin Dysmorphol. 2011 Oct;20(4):232-233. doi: 10.1097/MCD.0b013e328347bf41. Clin Dysmorphol. 2011. PMID: 21629115 No abstract available.
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Arnaud-Lopez L, Usala G, Ceresini G, Mitchell BD, Pilia MG, Piras MG, Sestu N, Maschio A, Busonero F, Albai G, Dei M, Lai S, Mulas A, Crisponi L, Tanaka T, Bandinelli S, Guralnik JM, Loi A, Balaci L, Sole G, Prinzis A, Mariotti S, Shuldiner AR, Cao A, Schlessinger D, Uda M, Abecasis GR, Nagaraja R, Sanna S, Naitza S. Arnaud-Lopez L, et al. Am J Hum Genet. 2008 Jun;82(6):1270-80. doi: 10.1016/j.ajhg.2008.04.019. Am J Hum Genet. 2008. PMID: 18514160 Free PMC article.
A highly complex rea(2;3;11) and aniridia by position effect.
Rivera H, Ayala-Madrigal ML, Barros-Núñez JP, Arnaud-López L, Maloney V, Crolla JA. Rivera H, et al. Among authors: arnaud lopez l. Cytogenet Genome Res. 2006;114(1):83-8. doi: 10.1159/000091933. Cytogenet Genome Res. 2006. PMID: 16717455
14 results