Maura Masciadri - Concepedia

Author

Maura Masciadri

IRCCS Istituto Auxologico Italiano ORCID

Also Known As

M Masciadri, M. Masciadri, Maura Masciadri

Publications

854

Citations

H-Index

Concepts

All Affiliations

IRCCS Istituto Auxologico Italiano University of Milan Azienda Ospedaliera San Gerardo Ospedale San Paolo Istituti di Ricovero e Cura a Carattere Scientifico

About

Maura Masciadri is an author at IRCCS Istituto Auxologico Italiano specializing in medicine, pathology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	438
2	Cell Biology	3	3	60
3	Engineering	1	1	23
4	Natural Sciences	1	1	122
5	Biochemistry	1	1	122

Maura Masciadri

Publications

838

Citations

H-Index

Page 1

	Year	Citations
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of <i>NIPBL</i> mutation Angelo Selicorni, Silvia Russo, Cristina Gervasini, Clinical Genetics	2007	143
Minor Components of Olive Oil Modulate Proatherogenic Adhesion Molecules Involved in Endothelial Activation Mario Dell’Agli, Rossana Fagnani, Nico Mitro, Journal of Agricultural and Food Chemistry Cell AdhesionLipid PeroxidationEndothelial ActivationPolyphenolicsOxidative Stress	2006	122
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome Paola Castronovo, Cristina Gervasini, Anna Cereda, Chromosome Research Lange SyndromeSurgical PathologyHistopathologyPathologyPremature Chromatid Separation	2009	84
Recent insights into genotype–phenotype relationships in patients with Rett syndrome using a fine grain scale Rosa Angela Fabio, Barbara Colombo, Silvia Russo, Research in Developmental Disabilities Genotype–phenotype RelationshipsGenetic DisorderGeneticsGenetic EpidemiologyPathology	2014	47
Expanding the clinical spectrum of the ‘<i><scp>HDAC8</scp></i>‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Clinical Genetics Mendelian DisorderRisk PredictionGenetic DisorderMedicineGenetics	2015	42
Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients Milena Mariani, Valentina Decimi, Laura Rachele Bettini, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2016	37
Cornelia de Lange individuals with new and recurrent <i>SMC1A</i> mutations enhance delineation of mutation repertoire and phenotypic spectrum Cristina Gervasini, Silvia Russo, Anna Cereda, American Journal of Medical Genetics Part A	2013	35
Disruption of Friend of GATA 2 gene (<i>FOG‐2</i>) by a <i>de novo </i>t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis Palma Finelli, A. I. Pincelli, Silvia Russo, Clinical Genetics	2007	35
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Paola Castronovo, Andrée Delahaye‐Duriez, Cristina Gervasini, Clinical Genetics Developmental AnomalyRare DiseasesWide Clinical ExpressivityMendelian DisorderOphthalmology	2010	33
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes Francesca Cogliati, Valentina Giorgini, Maura Masciadri, International Journal of Molecular Sciences	2019	32

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