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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.
Scientific Reports
|
July 4, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
Federico Rondot, Federica Centofanti, Anna Micaletto, 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.
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.
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 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.
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 Epigenetics
|
June 1, 2022
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
Laura Pignata, Francesco Cecere, Ankit Verma, et al.
Clinical Epigenetics
|
August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Deborah J G Mackay, Gabriella Gazdagh, David Monk, et al.
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Search research articles
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Showing results (41-50 of 50) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 50 results.
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.
Scientific Reports
|
July 4, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
Federico Rondot, Federica Centofanti, Anna Micaletto, 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.
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.
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 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.
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 Epigenetics
|
June 1, 2022
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
Laura Pignata, Francesco Cecere, Ankit Verma, et al.
Clinical Epigenetics
|
August 1, 2024
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis
Deborah J G Mackay, Gabriella Gazdagh, David Monk, et al.
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of 5