Detalhe da pesquisa
1.
Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.
J Med Genet
; 55(7): 497-504, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574422
2.
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes.
J Med Genet
; 51(4): 229-38, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501229
3.
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
Am J Med Genet A
; 161A(9): 2174-82, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913548
4.
A statistical method for single sample analysis of HumanMethylation450 array data: genome-wide methylation analysis of patients with imprinting disorders.
Clin Epigenetics
; 7: 48, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25918558
5.
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Nat Commun
; 6: 8086, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26323243
6.
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
Eur J Hum Genet
; 20(2): 240-3, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21863054
7.
An atypical case of hypomethylation at multiple imprinted loci.
Eur J Hum Genet
; 19(3): 360-2, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21206512
8.
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