Detalhe da pesquisa
1.
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Clin Endocrinol (Oxf)
; 90(3): 449-456, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548673
2.
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Am J Med Genet A
; 164A(3): 753-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357330
3.
Accuracy of Glucagon Testing Across Transition in Young Adults with Childhood-Onset Growth Hormone Deficiency.
J Clin Endocrinol Metab
; 2024 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38913686
4.
Serum thyrotropin concentration in children with isolated thyroid nodules.
J Pediatr
; 163(5): 1465-70, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23972643
5.
γ Chain transducing element: a shared pathway between endocrine and immune system.
Cell Immunol
; 269(1): 10-5, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21458779
6.
Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
Eur J Endocrinol
; 181(3): 233-244, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31238300
7.
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
Horm Res Paediatr
; 86(5): 330-336, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784012
8.
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
Eur J Endocrinol
; 172(4): 461-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740874
9.
The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.
Gene
; 285(1-2): 311-8, 2002 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-12039059
10.
Use of office hysteroscopy to empty a very large hematometra in a young virgin patient with mosaic Turner's syndrome.
Fertil Steril
; 87(2): 417.e1-3, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17118367
11.
Menstrual cycle pattern during the first gynaecological years in girls with precocious puberty following gonadotropin-releasing hormone analogue treatment.
Eur J Pediatr
; 166(1): 73-4, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906400