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1.
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
J Med Genet
; 51(8): 502-11, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24996904
2.
Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region.
J Med Genet
; 50(1): 11-20, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23240093
3.
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.
Hum Mol Genet
; 19(5): 803-14, 2010 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20007505
4.
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
Hum Mutat
; 32(10): 1171-82, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21780245
5.
HDAC2/3 inhibitor MI192 mitigates oligodendrocyte loss and reduces microglial activation upon injury: A potential role of epigenetics.
Open Vet J
; 11(3): 447-457, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34722210
6.
Patellar luxation in Hejazi goats.
Open Vet J
; 11(2): 295-300, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34307087
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21863054
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