Detalhe da pesquisa
1.
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
Am J Med Genet A
; 188(6): 1896-1903, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266280
2.
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Clin Epigenetics
; 14(1): 143, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36345041
3.
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.
Eur J Med Genet
; 56(2): 114-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261959
4.
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Eur J Hum Genet
; 18(6): 648-55, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104244
5.
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Diabetes Care
; 31(9): 1736-7, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18556340
6.
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
Clin Dysmorphol
; 21(4): 208-211, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22797553