Detalhe da pesquisa
1.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29265571
2.
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Clin Endocrinol (Oxf)
; 87(6): 725-732, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28734020
3.
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.
Pituitary
; 18(4): 561-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25315032
4.
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
J Med Genet
; 51(6): 413-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24744436
5.
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clin Endocrinol (Oxf)
; 78(4): 551-7, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22967285
6.
Clarification of intellectual abilities in patients with GLI2 mutations cited by Kevelam et al., 2012 Am J Med Genet Part A.
Am J Med Genet A
; 158A(6): 1519, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22528067
7.
Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.
J Endocr Soc
; 1(10): 1322-1330, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264457
8.
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Arch Endocrinol Metab
; 61(6): 633-636, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29412390
9.
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
Eur J Endocrinol
; 175(2): K7-K15, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27252485
10.
Role of GLI2 in hypopituitarism phenotype.
J Mol Endocrinol
; 54(3): R141-50, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878059
11.
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Endocr Connect
; 4(2): 100-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759380
12.
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort.
Growth Horm IGF Res
; 24(5): 180-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25116472
13.
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.
Horm Res Paediatr
; 78(3): 165-72, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23052699
14.
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Arch. endocrinol. metab. (Online)
; 61(6): 633-636, Dec. 2017. graf
Artigo
em Inglês
| LILACS | ID: biblio-887602
15.
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.
J Clin Endocrinol Metab
; 96(9): E1457-60, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21715545
16.
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
J Clin Endocrinol Metab
; 95(11): E384-91, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20685856