Detalhe da pesquisa
1.
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Proc Natl Acad Sci U S A
; 108(4): 1597-602, 2011 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-21220346
2.
Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism.
Radiology
; 253(1): 216-22, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19709999
3.
Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
J Urol
; 180(4): 1496-501, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18710728
4.
[Hyperinsulinism in children: new concepts - the role of imaging]. / Hyperinsulinisme chez l'enfant: nouveaux concepts--rôle de l'imagerie.
Bull Acad Natl Med
; 192(1): 59-70; discussion 71-2, 2008 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-18663982
5.
Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy.
Endocr Dev
; 12: 55-66, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17923769
6.
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
J Clin Endocrinol Metab
; 91(10): 4118-23, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16882742
7.
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
J Clin Endocrinol Metab
; 91(3): 933-40, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16403819
8.
Studies of a cohort of 46,XY with DSD including steroid biosynthesis deficiencies.
Adv Exp Med Biol
; 707: 15-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691946
9.
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
Diabetes
; 52(3): 784-94, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12606521
10.
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA.
J Nucl Med
; 46(4): 560-6, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15809476
11.
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism]. / Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme.
Med Sci (Paris)
; 21(11): 981-6, 2005 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-16274650
12.
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
Fertil Steril
; 103(5): 1297-304, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25813279
13.
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.
J Clin Endocrinol Metab
; 89(2): 925-9, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14764815
14.
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism.
J Clin Endocrinol Metab
; 87(11): 4860-8, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12414839
15.
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.
Hum Genet
; 57(3): 300-306, 1981 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28035502
16.
Facial appearance in persistent hyperinsulinemic hypoglycemia.
Am J Med Genet
; 111(2): 130-3, 2002 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12210338
17.
[Hermaphroditism pathology]. / Pathologie des hermaphrodismes.
Ann Pathol
; 24(6): 499-509, 2004 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-15785398
18.
Gonad development in Drash and Frasier syndromes depends on WT1 mutations.
Arkh Patol
; 65(2): 40-4, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-15357247
19.
Persistent hyperinsulinemic neonatal hypoglycemia caused by focal nesidioblastosis. Preoperative diagnosis by pancreatic venous sampling.
Hormones (Athens)
; 2(1): 67-71, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-17003005
20.
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism.
Diabetes Care
; 35(2): 198-203, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190679