Detalhe da pesquisa
1.
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
N Engl J Med
; 368(26): 2467-75, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23738509
2.
A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.
Diabetes Metab J
; 2024 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38523249
3.
Growth response of syndromic versus non-syndromic children born small for gestational age (SGA) to growth hormone therapy: a Belgian study.
Front Endocrinol (Lausanne)
; 14: 1112938, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334282
4.
IGF1 haploinsufficiency in children with short stature: a case series.
Eur J Endocrinol
; 185(2): 323-332, 2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125705
5.
A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242235
6.
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
J Clin Endocrinol Metab
; 105(12)2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32685970
7.
Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study.
Lancet Diabetes Endocrinol
; 8(8): 683-692, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707116
8.
Risk of Meningioma in European Patients Treated With Growth Hormone in Childhood: Results From the SAGhE Cohort.
J Clin Endocrinol Metab
; 104(3): 658-664, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30137467
9.
Growth hormone treatment and fat redistribution in children born small for gestational age.
J Pediatr
; 152(3): 327-30, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18280835
10.
Intrathoracic lymphadenitis caused by Mycobacterium avium and Mycobacterium tuberculosis in an immunocompetent child.
Pediatr Infect Dis J
; 27(8): 759-60, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18574435
11.
Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).
J Pediatr
; 150(3): 313-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17307554
12.
Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study.
J Clin Endocrinol Metab
; 102(5): 1661-1672, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187225
13.
Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.
Horm Res Paediatr
; 85(4): 288-90, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26741373
14.
High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome.
Orphanet J Rare Dis
; 11(1): 56, 2016 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27146407
15.
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
J Clin Endocrinol Metab
; 90(3): 1323-31, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15613420
16.
Insulin sensitivity modulates the growth response during the first year of high-dose growth hormone treatment in short prepubertal children born small for gestational age.
Horm Res Paediatr
; 78(1): 24-30, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22832126
17.
Rhabdomyolysis in diabetic ketoacidosis.
Pediatr Diabetes
; 4(1): 29-31, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14655521