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1.
Increasing knowledge in IGF1R defects: lessons from 35 new patients.
J Med Genet
; 57(3): 160-168, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31586944
2.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29223973
3.
Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Genet Med
; 20(2): 250-258, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28796236
4.
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Hum Mutat
; 38(1): 105-111, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27701793
5.
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
6.
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
J Med Genet
; 52(7): 446-53, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25951829
7.
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
8.
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
9.
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
Hum Mutat
; 35(10): 1211-20, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25044976
10.
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
Hum Mutat
; 34(8): 1172-80, 2013 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-23649963
11.
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
12.
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
13.
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
14.
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
Hum Mol Genet
; 18(24): 4724-33, 2009 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19755383
15.
[Epigenetics, genomic imprinting and developmental disorders]. / Anomalies épigénétiques et de l'empreinte parentale dans les maladies du développement humain.
Bull Acad Natl Med
; 194(2): 287-97; discussion 297-300, 2010 Feb.
Artículo
en Francés
| MEDLINE | ID: mdl-21166119
16.
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.
Sci Adv
; 5(2): eaau9425, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30801013
17.
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
J Clin Endocrinol Metab
; 103(7): 2436-2446, 2018 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29659920
18.
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
J Clin Endocrinol Metab
; 92(8): 3148-54, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17504900
19.
Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Curr Opin Endocrinol Diabetes Obes
; 21(1): 30-8, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24322424
20.
Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms.
Curr Pharm Des
; 20(11): 1751-63, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-23888961