Detalhe da pesquisa
1.
Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant.
J Craniofac Surg
; 34(3): 849-854, 2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36944600
2.
Investigation of the adolescent female breast transcriptome and the impact of obesity.
Breast Cancer Res
; 22(1): 44, 2020 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393308
3.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
J Med Genet
; 56(10): 693-700, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31243061
4.
Hypoglycemia in patients with congenital muscle disease.
BMC Pediatr
; 20(1): 57, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32028919
5.
Early breast development in overweight girls: does estrogen made by adipose tissue play a role?
Int J Obes (Lond)
; 43(10): 1978-1987, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462689
6.
Pubertal Girls With Overweight/Obesity Have Higher Androgen Levels-Can Metabolomics Tell us Why?
J Clin Endocrinol Metab
; 109(5): 1328-1333, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978828
7.
Cholesterol biosynthesis modulates differentiation in murine cranial neural crest cells.
Sci Rep
; 13(1): 7073, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37127649
8.
DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.
Sci Adv
; 9(7): eabq7744, 2023 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800423
9.
Sparse Deconvolution of Pulsatile Growth Hormone Secretion in Adolescents.
IEEE/ACM Trans Comput Biol Bioinform
; 19(4): 2463-2470, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34110999
10.
Serum and urine profiles of TGF-ß superfamily members in reproductive aged women.
Clin Chim Acta
; 524: 96-100, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34875272
11.
Acute Sleep Disruption Does Not Diminish Pulsatile Growth Hormone Secretion in Pubertal Children.
J Endocr Soc
; 6(11): bvac146, 2022 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37283961
12.
The Launch of A Girl's First Period Study: Demystifying Reproductive Hormone Profiles in Adolescent Girls.
J Pediatr Adolesc Gynecol
; 35(4): 420-425, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031446
13.
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Neurology
; 98(13): e1384-e1396, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121673
14.
Sleep and Puberty.
Curr Opin Endocr Metab Res
; 17: 1-7, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005296
15.
Longitudinal Investigation of Pubertal Milestones and Hormones as a Function of Body Fat in Girls.
J Clin Endocrinol Metab
; 106(6): 1668-1683, 2021 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630047
16.
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
J Clin Endocrinol Metab
; 106(3): e1441-e1452, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870266
17.
AMH is Higher Across the Menstrual Cycle in Early Postmenarchal Girls than in Ovulatory Women.
J Clin Endocrinol Metab
; 105(4)2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016427
18.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034419
19.
Development of Ovulatory Menstrual Cycles in Adolescent Girls.
J Pediatr Adolesc Gynecol
; 32(3): 249-253, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30772499
20.
A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.
Commun Biol
; 2: 255, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312724