Quedas EP - Search Results

1

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.

Quedas EP, Longuini VC, Sekiya T, Coutinho FL, Toledo SP, Tannuri U, Toledo RA. Quedas EP, et al. Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):57-61. doi: 10.6061/clinics/2012(sup01)11. Clinics (Sao Paulo). 2012. PMID: 22584707 Free PMC article. Review.

2

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA, Urtremari B, Jorge AAL, Santana LS, Quedas EPS, Sekiya T, Longuini VC, Montenegro FLM, Lerario AM, Toledo SPA, Marx SJ, Toledo RA, Lourenço DM Jr. Carvalho RA, et al. Among authors: quedas eps. Eur J Endocrinol. 2018 Dec 1;179(6):391-407. doi: 10.1530/EJE-18-0430. Eur J Endocrinol. 2018. PMID: 30324798

3

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.

Vasques GA, Amano N, Docko AJ, Funari MF, Quedas EP, Nishi MY, Arnhold IJ, Hasegawa T, Jorge AA. Vasques GA, et al. Among authors: quedas ep. J Clin Endocrinol Metab. 2013 Oct;98(10):E1636-44. doi: 10.1210/jc.2013-2142. Epub 2013 Sep 3. J Clin Endocrinol Metab. 2013. PMID: 24001744

4

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.

Lido AC, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EP, Nishi MY, Mendonca BB, Arnhold IJ, Jorge AA. Lido AC, et al. Among authors: quedas ep. Growth Horm IGF Res. 2014 Oct;24(5):180-6. doi: 10.1016/j.ghir.2014.07.001. Epub 2014 Jul 30. Growth Horm IGF Res. 2014. PMID: 25116472

5

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Vasques GA, Hisado-Oliva A, Funari MF, Lerario AM, Quedas EP, Solberg P, Heath KE, Jorge AA. Vasques GA, et al. Among authors: quedas ep. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):111-116. doi: 10.1515/jpem-2016-0280. J Pediatr Endocrinol Metab. 2017. PMID: 27941173

6

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Noronha RM, Villares SMF, Torres N, Quedas EPS, Homma TK, Albuquerque EVA, Moraes MB, Funari MFA, Bertola DR, Jorge AAL, Malaquias AC. Noronha RM, et al. Among authors: quedas eps. Am J Med Genet A. 2021 Mar;185(3):774-780. doi: 10.1002/ajmg.a.62039. Epub 2020 Dec 31. Am J Med Genet A. 2021. PMID: 33382187

7

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS, Caetano LA, Costa-Riquetto AD, Quedas EPS, Nery M, Collett-Solberg P, Boguszewski MCS, Vendramini MF, Crisostomo LG, Floh FO, Zarabia ZI, Kohara SK, Guastapaglia L, Passone CGB, Sewaybricker LE, Jorge AAL, Teles MG. Santana LS, et al. Among authors: quedas eps. Clin Genet. 2017 Oct;92(4):388-396. doi: 10.1111/cge.12988. Epub 2017 Apr 12. Clin Genet. 2017. PMID: 28170077

8

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: quedas eps. Horm Res Paediatr. 2022;95(1):51-61. doi: 10.1159/000522670. Epub 2022 Feb 17. Horm Res Paediatr. 2022. PMID: 35176743

9

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Malaquias AC, Noronha RM, Souza TTO, Homma TK, Funari MFA, Yamamoto GL, Silva FV, Moraes MB, Honjo RS, Kim CA, Nesi-França S, Carvalho JAR, Quedas EPS, Bertola DR, Jorge AAL. Malaquias AC, et al. Among authors: quedas eps. Horm Res Paediatr. 2019;91(4):252-261. doi: 10.1159/000500264. Epub 2019 May 27. Horm Res Paediatr. 2019. PMID: 31132774 Clinical Trial.

10

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Andrade NLM, Rezende RC, Crisostomo LG, Dantas NCB, Cellin LP, de Souza V, Quedas EPS, Lerario AM, Vasques GA, Jorge AAL. Andrade NLM, et al. Among authors: quedas eps. Horm Res Paediatr. 2024 May 14:1-8. doi: 10.1159/000539348. Online ahead of print. Horm Res Paediatr. 2024. PMID: 38744258

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