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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability.
Eur J Endocrinol. 2023 Sep 1;189(3):387-395. doi: 10.1093/ejendo/lvad128.
Eur J Endocrinol. 2023.
PMID: 37695807
Genetic causes of isolated short stature.
Vasques GA, Andrade NLM, Jorge AAL.
Vasques GA, et al. Among authors: andrade nlm.
Arch Endocrinol Metab. 2019 Feb;63(1):70-78. doi: 10.20945/2359-3997000000105.
Arch Endocrinol Metab. 2019.
PMID: 30864634
Free PMC article.
Review.
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Update on new GH-IGF axis genetic defects.
Vasques GA, Andrade NLM, Correa FA, Jorge AAL.
Vasques GA, et al. Among authors: andrade nlm.
Arch Endocrinol Metab. 2019 Nov-Dec;63(6):608-617. doi: 10.20945/2359-3997000000191.
Arch Endocrinol Metab. 2019.
PMID: 31939486
Free PMC article.
Review.
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Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study.
Dantas NCB, Funari MFA, Vasques GA, Andrade NLM, Rezende RC, Brito V, Scalco RC, Arnhold IJP, Mendonca BB, Jorge AAL.
Dantas NCB, et al. Among authors: andrade nlm.
Horm Res Paediatr. 2022;95(3):264-274. doi: 10.1159/000524374. Epub 2022 Apr 7.
Horm Res Paediatr. 2022.
PMID: 35390795
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Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
Rezende RC, Noronha RM, Keselman A, Quedas EPS, Dantas NCB, Andrade NLM, Bertola DR, Malaquias AC, Jorge AAL.
Rezende RC, et al. Among authors: andrade nlm.
Horm Res Paediatr. 2022;95(1):51-61. doi: 10.1159/000522670. Epub 2022 Feb 17.
Horm Res Paediatr. 2022.
PMID: 35176743
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Clinical Characteristics of Children with THRA mutations: Variable Phenotype and Good Response to rhGH Therapy.
Andrade NLM, Rezende RC, Crisostomo LG, Dantas NCB, Cellin LP, Souza V, Quedas EPS, Lerario AM, Vasques GA, Jorge A.
Andrade NLM, et al.
Horm Res Paediatr. 2024 May 14. doi: 10.1159/000539348. Online ahead of print.
Horm Res Paediatr. 2024.
PMID: 38744258
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Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA.
Andrade NLM, et al.
Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1.
Endocr Connect. 2022.
PMID: 36373817
Free PMC article.
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