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Clinical Epigenetics
|
February 28, 2018
Is ZFP57 binding to <i>H19/IGF2</i>:IG-DMR affected in Silver-Russell syndrome?
Angela Sparago, Flavia Cerrato, Andrea Riccio
European Journal of Human Genetics : EJHG
|
January 24, 2008
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
Manuela Priolo, Angela Sparago, Corrado Mammì, et al.
Human Molecular Genetics
|
February 2, 2011
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Raffaella Nativio, Angela Sparago, Yoko Ito, et al.
Archivos Argentinos De Pediatria
|
September 12, 2018
Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity
Francisco Cammarata-Scalisi, Andrea Avendaño, Frances Stock, et al.
Nature Genetics
|
August 18, 2004
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Angela Sparago, Flavia Cerrato, Maria Vernucci, et al.
Genes
|
April 30, 2021
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
Laura Pignata, Angela Sparago, Orazio Palumbo, et al.
Genes
|
June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>
Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
Human Mutation
|
December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
Tiziana Bardaro, Geppino Falco, Angela Sparago, et al.
Journal of Medical Genetics
|
December 18, 2012
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, et al.
Nucleic Acids Research
|
January 9, 2013
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop
Isabel Iglesias-Platas, Franck Court, Cristina Camprubi, et al.
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Search research articles
Search
Showing results (1-10 of 41) with videos related to
Sort By:
Page
of 5
Clinical Epigenetics
|
February 28, 2018
Is ZFP57 binding to <i>H19/IGF2</i>:IG-DMR affected in Silver-Russell syndrome?
Angela Sparago, Flavia Cerrato, Andrea Riccio
European Journal of Human Genetics : EJHG
|
January 24, 2008
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
Manuela Priolo, Angela Sparago, Corrado Mammì, et al.
Human Molecular Genetics
|
February 2, 2011
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome
Raffaella Nativio, Angela Sparago, Yoko Ito, et al.
Archivos Argentinos De Pediatria
|
September 12, 2018
Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity
Francisco Cammarata-Scalisi, Andrea Avendaño, Frances Stock, et al.
Nature Genetics
|
August 18, 2004
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Angela Sparago, Flavia Cerrato, Maria Vernucci, et al.
Genes
|
April 30, 2021
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome
Laura Pignata, Angela Sparago, Orazio Palumbo, et al.
Genes
|
June 2, 2021
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of <i>CDKN1C</i>
Angela Sparago, Flavia Cerrato, Laura Pignata, et al.
Human Mutation
|
December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
Tiziana Bardaro, Geppino Falco, Angela Sparago, et al.
Journal of Medical Genetics
|
December 18, 2012
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, et al.
Nucleic Acids Research
|
January 9, 2013
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop
Isabel Iglesias-Platas, Franck Court, Cristina Camprubi, et al.
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of 5