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1.
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
Hum Mol Genet
; 23(21): 5763-73, 2014 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24916376
2.
Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
J Med Genet
; 52(1): 53-60, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25395389
3.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-26077438
4.
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes.
Hum Mutat
; 32(2): 249-58, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-21280150
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