Detalhe da pesquisa
1.
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Am J Med Genet A
; 176(12): 2835-2840, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238602
2.
Small metacarpal bones of low quality in obese children.
Clin Endocrinol (Oxf)
; 78(1): 79-85, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22724541
3.
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
J Genet
; 98(2)2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204719
4.
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.
Eur J Med Genet
; 62(3): 198-203, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026055
5.
Role of MRI T2-DRIVE in the assessment of pituitary stalk abnormalities without gadolinium in pituitary diseases.
Eur J Endocrinol
; 178(6): 613-622, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29650689
6.
Deterioration of growth hormone (GH) response and anterior pituitary function in young adults with childhood-onset GH deficiency and ectopic posterior pituitary: a two-year prospective follow-up study.
J Clin Endocrinol Metab
; 92(10): 3875-84, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17666476
7.
Classical and non-classical causes of GH deficiency in the paediatric age.
Best Pract Res Clin Endocrinol Metab
; 30(6): 705-736, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974186
8.
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Clin Epigenetics
; 8: 23, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933465
9.
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
10.
Central diabetes insipidus in children and young adults: etiological diagnosis and long-term outcome of idiopathic cases.
J Clin Endocrinol Metab
; 99(4): 1264-72, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276447
11.
Posterior pituitary (PP) evaluation in patients with anterior pituitary defect associated with ectopic PP and septo-optic dysplasia.
Eur J Endocrinol
; 165(3): 411-20, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750044
12.
Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Clin Epigenetics
; 8: 40, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27110297
13.
The accuracy of the glucagon test compared to the insulin tolerance test in the diagnosis of adrenal insufficiency in young children with growth hormone deficiency.
J Clin Endocrinol Metab
; 95(5): 2132-9, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350939
14.
Reassessment of the growth hormone status in young adults with childhood-onset growth hormone deficiency: reappraisal of insulin tolerance testing.
J Clin Endocrinol Metab
; 94(11): 4195-204, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19837937