Detalhe da pesquisa
1.
Genetics of pubertal delay.
Clin Endocrinol (Oxf)
; 97(4): 473-482, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617615
2.
EAP1 regulation of GnRH promoter activity is important for human pubertal timing.
Hum Mol Genet
; 28(8): 1357-1368, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608578
3.
Interpretation of reproductive hormones before, during and after the pubertal transition-Identifying health and disordered puberty.
Clin Endocrinol (Oxf)
; 95(5): 702-715, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368982
4.
The Genetic Basis of Delayed Puberty.
Neuroendocrinology
; 106(3): 283-291, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28926843
5.
New UK guidelines for differentiated thyroid cancer in children.
Br J Surg
; 109(10): 1021-1022, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918803
6.
Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty.
J Pediatr Endocrinol Metab
; 37(1): 1-7, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37997801
7.
Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.
J Pediatr Endocrinol Metab
; 37(2): 102-109, 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38097507
8.
Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.
Endocr Rev
; 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436980
9.
Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis.
Eur J Endocrinol
; 190(1): S1-S11, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128110
10.
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Eur J Hum Genet
; 31(4): 387-394, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517585
11.
The crosstalk between FGF21 and GH leads to weakened GH receptor signaling and IGF1 expression and is associated with growth failure in very preterm infants.
Front Endocrinol (Lausanne)
; 14: 1105602, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251684
12.
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Dis Model Mech
; 16(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810932
13.
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Front Endocrinol (Lausanne)
; 14: 1226839, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701896
14.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Lancet Diabetes Endocrinol
; 11(8): 545-554, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385287
15.
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
J Clin Endocrinol Metab
; 108(12): e1580-e1587, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339320
16.
Paediatric differentiated thyroid carcinoma: a UK National Clinical Practice Consensus Guideline.
Endocr Relat Cancer
; 29(11): G1-G33, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900783
17.
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.
Eur J Endocrinol
; 185(5): 617-627, 2021 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34403359
18.
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.
NPJ Genom Med
; 6(1): 107, 2021 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930920
19.
LGR4 deficiency results in delayed puberty through impaired Wnt/ß-catenin signaling.
JCI Insight
; 5(11)2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493844
20.
The Genetic Basis of Delayed Puberty.
Front Endocrinol (Lausanne)
; 10: 423, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31293522