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Plos Genetics
|
February 23, 2018
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice
Andrea Freschi, Stella K Hur, Federica Maria Valente, et al.
Human Molecular Genetics
|
September 17, 2011
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, et al.
Human Molecular Genetics
|
November 3, 2012
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
Jasmin Beygo, Valentina Citro, Angela Sparago, et al.
Clinical Epigenetics
|
December 13, 2019
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
Angela Sparago, Ankit Verma, Maria Grazia Patricelli, et al.
Cancers
|
February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
Maria Luca, Diana Carli, Simona Cardaropoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Clinical Epigenetics
|
October 4, 2025
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
Francesco Cecere, Laura Pignata, Emilia D'Angelo, et al.
European Journal of Human Genetics : EJHG
|
December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
Jet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Clinical Genetics
|
July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
Diana Carli, Matteo Operti, Silvia Russo, et al.
Genes
|
April 1, 2020
DNA Methylation in the Diagnosis of Monogenic Diseases
Flavia Cerrato, Angela Sparago, Francesca Ariani, et al.
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Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Plos Genetics
|
February 23, 2018
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice
Andrea Freschi, Stella K Hur, Federica Maria Valente, et al.
Human Molecular Genetics
|
September 17, 2011
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
Nicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, et al.
Human Molecular Genetics
|
November 3, 2012
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
Jasmin Beygo, Valentina Citro, Angela Sparago, et al.
Clinical Epigenetics
|
December 13, 2019
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
Angela Sparago, Ankit Verma, Maria Grazia Patricelli, et al.
Cancers
|
February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
Maria Luca, Diana Carli, Simona Cardaropoli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2019
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus
Federica Maria Valente, Angela Sparago, Andrea Freschi, et al.
Clinical Epigenetics
|
October 4, 2025
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
Francesco Cecere, Laura Pignata, Emilia D'Angelo, et al.
European Journal of Human Genetics : EJHG
|
December 19, 2008
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
Jet Bliek, Gaetano Verde, Jonathan Callaway, et al.
Clinical Genetics
|
July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
Diana Carli, Matteo Operti, Silvia Russo, et al.
Genes
|
April 1, 2020
DNA Methylation in the Diagnosis of Monogenic Diseases
Flavia Cerrato, Angela Sparago, Francesca Ariani, et al.
Page
of 5