Detalhe da pesquisa
1.
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Hum Mol Genet
; 32(15): 2473-2484, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162340
2.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
3.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158857
4.
Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.
Rev Endocr Metab Disord
; 25(3): 555-573, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112850
5.
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Clin Endocrinol (Oxf)
; 87(3): 300-311, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445628
6.
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Neuroendocrinology
; 105(1): 17-25, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27225315
7.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
J Clin Endocrinol Metab
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717911
8.
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.
Endocr Rev
; 44(3): 539-565, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635911
9.
Sertoli cell markers in the diagnosis of paediatric male hypogonadism.
J Pediatr Endocrinol Metab
; 25(1-2): 3-11, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570945
10.
Meeting Reports: 2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights.
Pediatr Endocrinol Rev
; 14(4): 390-401, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28613050
11.
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.
Endocr Connect
; 11(8)2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904228
12.
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
J Clin Endocrinol Metab
; 106(7): 1956-1976, 2021 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729509
13.
Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors.
Front Endocrinol (Lausanne)
; 11: 624684, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33613456
14.
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]. / Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria.
Arch Argent Pediatr
; 118(3): e300-e304, 2020 06.
Artigo
em Espanhol
| MEDLINE | ID: mdl-32470270
15.
p.R209H GH1 variant challenges short stature assessment.
Growth Horm IGF Res
; 50: 23-26, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31835104
16.
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Eur J Endocrinol
; 181(5): K43-K53, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31539878
17.
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Mol Genet Genomic Med
; 2018 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739035
18.
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection.
Horm Res Paediatr
; 88(3-4): 274-280, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898885
19.
Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy.
Horm Res Paediatr
; 88(5): 354-363, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28926833
20.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
J Clin Invest
; 127(3): 942-953, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165343