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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. Lessel D, et al. Among authors: lerario am. Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173. Brain. 2018. PMID: 29985992 Free PMC article.
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
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.
129 results