Search details
1.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Article
in English
| 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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-25315032
4.
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Clin Endocrinol (Oxf)
; 78(4): 551-7, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-22967285
5.
Hormone resistance and short stature: A journey through the pathways of hormone signaling.
Mol Cell Endocrinol
; 536: 111416, 2021 10 01.
Article
in English
| MEDLINE | ID: mdl-34333056
6.
Is There a Difference Between Minimal and Gross Extension into the Strap Muscles for the Risk of Recurrence in Papillary Thyroid Carcinomas?
Thyroid
; 30(7): 1008-1016, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32059626
7.
Update on new GH-IGF axis genetic defects.
Arch Endocrinol Metab
; 63(6): 608-617, 2019.
Article
in English
| MEDLINE | ID: mdl-31939486
8.
Quality of Life and Coping in Multiple Endocrine Neoplasia Type 2.
J Endocr Soc
; 3(6): 1167-1174, 2019 Jun 01.
Article
in English
| MEDLINE | ID: mdl-31139763
9.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Arch Endocrinol Metab
; 63(2): 167-174, 2019 May 13.
Article
in English
| MEDLINE | ID: mdl-31090814
10.
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.
Endocr Connect
; 8(5): 590-595, 2019 May 01.
Article
in English
| MEDLINE | ID: mdl-30959475
11.
Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.
J Endocr Soc
; 1(10): 1322-1330, 2017 Oct 01.
Article
in English
| MEDLINE | ID: mdl-29264457
12.
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.
Article
in English
| MEDLINE | ID: mdl-29412390
13.
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.
Article
in English
| MEDLINE | ID: mdl-27252485
14.
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Endocr Connect
; 4(2): 100-7, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25759380
15.
Update on new GH-IGF axis genetic defects
Arch. endocrinol. metab. (Online)
; 63(6): 608-617, Nov.-Dec. 2019. tab, graf
Article
in English
| LILACS | ID: biblio-1055027
16.
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
Eur J Endocrinol
; 171(2): 253-62, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24878679
17.
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
Arch. endocrinol. metab. (Online)
; 63(2): 167-174, Mar.-Apr. 2019. tab, graf
Article
in English
| LILACS | ID: biblio-1001214
18.
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.
Article
in English
| MEDLINE | ID: mdl-25116472
19.
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
Article
in English
| LILACS | ID: biblio-887602
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