Detalhe da pesquisa
1.
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.
Eur J Pediatr
; 173(12): 1565-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933668
2.
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
Pediatr Diabetes
; 19 Suppl 27: 47-63, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30225972
3.
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.
Proc Natl Acad Sci U S A
; 107(7): 3105-10, 2010 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20133622
4.
KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
Pediatr Diabetes
; 13(4): 322-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981029
5.
Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.
Pediatr Diabetes
; 13(6): e26-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910811
6.
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
Eur J Clin Invest
; 41(3): 323-33, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21054355
7.
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.
JOP
; 11(1): 14-7, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20065546
8.
Neurogenin 3 is important but not essential for pancreatic islet development in humans.
Diabetologia
; 57(11): 2421-4, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25120094
9.
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents.
Pediatr Diabetes
; 15 Suppl 20: 47-64, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25182307
10.
Current insights into the genetic basis of diabetes mellitus in children and adolescents.
J Pediatr Endocrinol Metab
; 21(10): 917-40, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19209614
11.
[Diabetes mellitus in children: a heterogeneous disease]. / Diabetes mellitus en la infancia: una enfermedad heterogénea.
Med Clin (Barc)
; 128(16): 627-33, 2007 Apr 28.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17524322
12.
Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
Pediatr Neurol
; 71: 60-64, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28483396
13.
Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency.
J Clin Endocrinol Metab
; 101(10): 3555-3558, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27533310
14.
Diagnosing monogenic diabetes: common misinterpretations of genetic findings.
Pediatr Diabetes
; 10(8): 497-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19732375
15.
Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.
JOP
; 10(4): 457-8, 2009 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19581757
16.
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Cell Metab
; 19(1): 146-54, 2014 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24411943
17.
Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options.
Horm Res Paediatr
; 80(3): 137-46, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24051999
18.
Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.
PLoS One
; 7(1): e29205, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22235272
19.
Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
Eur J Endocrinol
; 167(3): 417-21, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22648966
20.
Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing.
PLoS One
; 7(1): e30518, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291974