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1.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33313884
2.
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
3.
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
4.
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
5.
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
6.
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
Nat Genet
; 37(9): 1003-7, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16086014
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
IGF2 promotes growth of adrenocortical carcinoma cells, but its overexpression does not modify phenotypic and molecular features of adrenocortical carcinoma.
PLoS One
; 9(8): e103744, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25089899
14.
Lack of alteration in GATA-1 expression in CD34+ hematopoietic progenitors from patients with idiopathic myelofibrosis.
Blood
; 101(12): 5087-8; author reply 5088-9, 2003 Jun 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-12788793
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