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Agostina De Crescenzo

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Journal of Medical Genetics|October 22, 2009
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella Zollino, Daniela Orteschi, Giuseppe Marangi, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilizationGuido Cocchi, Concetta Marsico, Anita Cosentino, et al.
Orphanet Journal of Rare Diseases|October 19, 2011
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro testsGiuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, et al.
European Journal of Medical Genetics|May 17, 2011
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndromeAgostina De Crescenzo, Filomena Coppola, Pietro Falco, 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 restrictionAgostina De Crescenzo, Angela Sparago, Flavia Cerrato, et al.
BMC Medical Genetics|August 23, 2015
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature reviewStefano Stagi, Elisabetta Lapi, Marilena Pantaleo, et al.
European Journal of Pediatrics|March 31, 2011
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndromeAlessandro Mussa, Giovanni Battista Ferrero, Barbara Ceoloni, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Prevalence of Beckwith-Wiedemann syndrome in North West of ItalyAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 24, 2009
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single familyLaura Cardarelli, Angela Sparago, Agostina De Crescenzo, et al.
Journal of Human Genetics|March 27, 2015
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotypeAgostina De Crescenzo, Valentina Citro, Andrea Freschi, et al.
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Showing results (1-10 of 19) with videos related to

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Journal of Medical Genetics|October 22, 2009
A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locusMarcella Zollino, Daniela Orteschi, Giuseppe Marangi, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilizationGuido Cocchi, Concetta Marsico, Anita Cosentino, et al.
Orphanet Journal of Rare Diseases|October 19, 2011
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro testsGiuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, et al.
European Journal of Medical Genetics|May 17, 2011
A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndromeAgostina De Crescenzo, Filomena Coppola, Pietro Falco, 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 restrictionAgostina De Crescenzo, Angela Sparago, Flavia Cerrato, et al.
BMC Medical Genetics|August 23, 2015
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature reviewStefano Stagi, Elisabetta Lapi, Marilena Pantaleo, et al.
European Journal of Pediatrics|March 31, 2011
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndromeAlessandro Mussa, Giovanni Battista Ferrero, Barbara Ceoloni, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Prevalence of Beckwith-Wiedemann syndrome in North West of ItalyAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|December 24, 2009
Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single familyLaura Cardarelli, Angela Sparago, Agostina De Crescenzo, et al.
Journal of Human Genetics|March 27, 2015
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotypeAgostina De Crescenzo, Valentina Citro, Andrea Freschi, et al.
Pageof 2