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1.
Germline (epi)genetics reveals high predisposition in females: a 5-year, nationwide, prospective Wilms tumour cohort.
J Med Genet
; 60(9): 842-849, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37019617
2.
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
Hum Mol Genet
; 30(16): 1509-1520, 2021 07 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34132339
3.
Epigenetics: An opportunity to shape innate and adaptive immune responses.
Immunology
; 167(4): 451-470, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36043705
4.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35842840
5.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
J Med Genet
; 58(11): 783-788, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32938693
6.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
PLoS Genet
; 14(11): e1007780, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30419018
7.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genet Med
; 21(8): 1808-1820, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30635621
8.
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Genes (Basel)
; 15(3)2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38540380
9.
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Ital J Pediatr
; 49(1): 127, 2023 Sep 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37749604
10.
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Cancers (Basel)
; 15(7)2023 Mar 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37046605
11.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Front Cell Dev Biol
; 11: 1237629, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37635873
12.
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Cancers (Basel)
; 15(3)2023 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36765732
13.
Epigenetic Alterations in Inborn Errors of Immunity.
J Clin Med
; 11(5)2022 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35268351
14.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Genes (Basel)
; 13(10)2022 10 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36292759
15.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Clin Epigenetics
; 14(1): 71, 2022 05 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35643636
16.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Genes (Basel)
; 12(5)2021 05 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34065128
17.
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Genes (Basel)
; 12(4)2021 04 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33923683
18.
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.
Cancers (Basel)
; 12(11)2020 Nov 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-33217932
19.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
Clin Epigenetics
; 12(1): 139, 2020 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-32928291
20.
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
Clin Epigenetics
; 11(1): 190, 2019 12 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31829238
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