Detalhe da pesquisa
1.
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
BMC Med
; 21(1): 298, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553648
2.
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Pituitary
; 24(2): 229-241, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184694
3.
Three years of growth hormone treatment in young adults with Prader-Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome.
Clin Endocrinol (Oxf)
; 93(4): 439-448, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609902
4.
A value-based healthcare approach: Health-related quality of life and psychosocial functioning in women with Turner syndrome.
Clin Endocrinol (Oxf)
; 92(5): 434-442, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32003479
5.
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
BMC Med
; 21(1): 401, 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872559
6.
Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies.
Pituitary
; 21(1): 76-83, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29255988
7.
Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency.
Pituitary
; 20(5): 499-508, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28593555
8.
Hypertension with hidden causes: the cognitive and behavioral profile of an adult female with chronic stress and 16p11.2 microdeletion.
J Hypertens
; 42(1): 179-184, 2024 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698889
9.
Corrigendum: Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.
Front Endocrinol (Lausanne)
; 15: 1357219, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318297
10.
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.
Clin Endocrinol (Oxf)
; 78(3): 415-23, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22897141
11.
The transition from pediatric to adult care in individuals with Prader-Willi syndrome.
Endocr Connect
; 12(1)2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36347048
12.
What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.
Front Endocrinol (Lausanne)
; 14: 1145066, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37033248
13.
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.
Front Endocrinol (Lausanne)
; 14: 1119159, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38560379
14.
Associations Between Fatigue and Endocrine and Non-endocrine Health Problems in Turner Syndrome: Cohort Study and Review.
J Clin Endocrinol Metab
; 108(12): e1649-e1659, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296515
15.
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.
J Clin Endocrinol Metab
; 108(12): e1720-e1730, 2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267430
16.
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.
Front Endocrinol (Lausanne)
; 14: 1168648, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37547314
17.
Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.
Clin Endocrinol (Oxf)
; 76(5): 706-12, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22117696
18.
Unnecessary surgery for acute abdomen secondary to angiotensin-converting enzyme inhibitor use.
Am J Emerg Med
; 30(8): 1607-12, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22867837
19.
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.
Genes (Basel)
; 13(4)2022 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456429
20.
Free Insulin-like Growth Factor (IGF)-I in Children with PWS.
J Clin Med
; 11(5)2022 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35268371