Vasques GA - Search Results

1

Evaluation of SHOX defects in the era of next-generation sequencing.

Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL. Funari MFA, et al. Among authors: vasques ga. Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4. Clin Genet. 2019. PMID: 31219618 Free article.

2

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ. França MM, et al. Among authors: vasques ga. J Clin Endocrinol Metab. 2010 Nov;95(11):E384-91. doi: 10.1210/jc.2010-1050. Epub 2010 Aug 4. J Clin Endocrinol Metab. 2010. PMID: 20685856

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. 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

Role of the natriuretic peptide system in normal growth and growth disorders.

Vasques GA, Arnhold IJ, Jorge AA. Vasques GA, et al. Horm Res Paediatr. 2014;82(4):222-9. doi: 10.1159/000365049. Epub 2014 Sep 3. Horm Res Paediatr. 2014. PMID: 25196103 Review.

5

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.

Hisado-Oliva A, Garre-Vázquez AI, Santaolalla-Caballero F, Belinchón A, Barreda-Bonis AC, Vasques GA, Ramirez J, Luzuriaga C, Carlone G, González-Casado I, Benito-Sanz S, Jorge AA, Campos-Barros A, Heath KE. Hisado-Oliva A, et al. Among authors: vasques ga. J Clin Endocrinol Metab. 2015 Aug;100(8):E1133-42. doi: 10.1210/jc.2015-1612. Epub 2015 Jun 15. J Clin Endocrinol Metab. 2015. PMID: 26075495

6

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA. de Bruin C, et al. Among authors: vasques ga. Horm Res Paediatr. 2016;86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2. Horm Res Paediatr. 2016. PMID: 27245183 Free PMC article.

7

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. J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):111-116. doi: 10.1515/jpem-2016-0280. J Pediatr Endocrinol Metab. 2017. PMID: 27941173

8

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL. Vasques GA, et al. J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. J Clin Endocrinol Metab. 2018. PMID: 29155992

9

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL. Freire BL, et al. Among authors: vasques ga. J Clin Endocrinol Metab. 2019 Jun 1;104(6):2023-2030. doi: 10.1210/jc.2018-01971. J Clin Endocrinol Metab. 2019. PMID: 30602027

10

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.

Inoue-Lima TH, Vasques GA, Scalco RC, Nakaguma M, Mendonca BB, Arnhold IJP, Jorge AAL. Inoue-Lima TH, et al. Among authors: vasques ga. J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):173-179. doi: 10.1515/jpem-2018-0435. J Pediatr Endocrinol Metab. 2019. PMID: 30676998

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