M
Milena Mariani
Researcher at University of Milano-Bicocca
Publications - 41
Citations - 705
Milena Mariani is an academic researcher from University of Milano-Bicocca. The author has contributed to research in topics: Cornelia de Lange Syndrome & Medicine. The author has an hindex of 10, co-authored 32 publications receiving 465 citations. Previous affiliations of Milena Mariani include University of Milan.
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Journal ArticleDOI
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D. Kline,Joanna Moss,Angelo Selicorni,Anne Marie Bisgaard,Matthew A. Deardorff,Peter M. Gillett,Stacey L. Ishman,Lynne M. Kerr,Alex V. Levin,Paul A. Mulder,Feliciano J. Ramos,Jolanta Wierzba,Paola Francesca Ajmone,David Axtell,Natalie Blagowidow,Anna Cereda,Antonella Costantino,Valérie Cormier-Daire,David R. FitzPatrick,Marco A. Grados,Laura Groves,Whitney Guthrie,Sylvia A. Huisman,Frank J. Kaiser,Gerritjan Koekkoek,Mary Levis,Milena Mariani,Joseph P. McCleery,Leonie A. Menke,Amy Metrena,Julia O'Connor,Chris Oliver,Juan Pié,Sigrid Piening,Carol J. Potter,Ana L. Quaglio,Egbert J.W. Redeker,David M. Richman,Claudia Rigamonti,Angell Shi,Zeynep Tümer,Ingrid D. C. van Balkom,Raoul C.M. Hennekam +42 more
TL;DR: A series of recommendations are outlined that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic and non-classic Cornelia de Lange syndrome phenotypes, molecular investigations, long-term management and care planning.
Journal ArticleDOI
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
Alessandro Mussa,Silvia Russo,Agostina De Crescenzo,Andrea Freschi,Luciano Calzari,Silvia Maitz,Marina Macchiaiolo,Cristina Molinatto,Giuseppina Baldassarre,Milena Mariani,Luigi Tarani,Maria Francesca Bedeschi,Donatella Milani,Daniela Melis,Andrea Bartuli,Maria Vittoria Cubellis,Angelo Selicorni,Margherita Silengo,Lidia Larizza,Andrea Riccio,Giovanni Battista Ferrero +20 more
TL;DR: (epi)genotype–phenotype correlations define four different phenotypic BWS profiles with some degree of clinical overlap allowing to move toward genotype-based follow-up and cancer screening.
Journal ArticleDOI
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Ilaria Parenti,Ilaria Parenti,Cristina Gervasini,Jelena Pozojevic,Luitgard Graul-Neumann,Jacopo Azzollini,Diana Braunholz,Erwan Watrin,Kerstin S. Wendt,Anna Cereda,Davide Cittaro,Gabriele Gillessen-Kaesbach,Dejan Lazarevic,Milena Mariani,Silvia Russo,Ralf Werner,Peter Krawitz,Peter Krawitz,Lidia Larizza,Angelo Selicorni,Frank J. Kaiser +20 more
TL;DR: Exome sequencing could identify heterozygous loss‐of‐function mutations in ANKRD11 in two patients with the clinical diagnosis of CdLS, pointing out the importance of screening ANKRd11 in young C dLS patients who were found to be negative for mutations in the five known Cd LS genes.
Journal ArticleDOI
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
María Concepción Gil-Rodríguez,Matthew A. Deardorff,Matthew A. Deardorff,Morad Ansari,Christopher A. Tan,Ilaria Parenti,Ilaria Parenti,Carolina Baquero-Montoya,Lilian Bomme Ousager,Beatriz Puisac,María Hernández-Marcos,María Esperanza Teresa-Rodrigo,Iñigo Marcos-Alcalde,Jan-Jaap Wesselink,Silvia Lusa-Bernal,Emilia K. Bijlsma,Diana Braunholz,Inés Bueno-Martinez,Dinah Clark,Nicola S. Cooper,Cynthia J. Curry,Richard Fisher,Alan Fryer,Jaya Ganesh,Jaya Ganesh,Cristina Gervasini,Gabriele Gillessen-Kaesbach,Yiran Guo,Hakon Hakonarson,Hakon Hakonarson,Robert J. Hopkin,Maninder Kaur,Brendan J. Keating,Brendan J. Keating,Maria Kibaek,Esther Kinning,Tjitske Kleefstra,Antonie D. Kline,Ekaterina Kuchinskaya,Lidia Larizza,Yun Li,Yun Li,Xuanzhu Liu,Milena Mariani,Jonathan Picker,Angeles Pié,Jelena Pozojevic,Ethel Queralt,Julie Richer,Elizabeth Roeder,Anubha Sinha,Richard H Scott,Richard H Scott,Joyce So,Joyce So,Joyce So,Katherine Wusik,Louise C. Wilson,Jianguo Zhang,Paulino Gómez-Puertas,Cesar H. Casale,Lena Ström,Angelo Selicorni,Feliciano J. Ramos,Laird G. Jackson,Ian D. Krantz,Ian D. Krantz,Soma Das,Raoul C.M. Hennekam,Frank J. Kaiser,David R. FitzPatrick,Juan Pié +71 more
TL;DR: It is confirmed that de novo SMC3 mutations account for ∼1%–2% of CdLS‐like phenotypes, and modeling of the mutation effects on protein structure suggests a dominant‐negative effect on the multimeric cohesin complex.
Journal ArticleDOI
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction
Ilaria Parenti,Ilaria Parenti,Cristina Gervasini,Jelena Pozojevic,Kerstin S. Wendt,Erwan Watrin,Jacopo Azzollini,Diana Braunholz,Karin Buiting,Anna Cereda,Hartmut Engels,Livia Garavelli,Renata Glazar,Barbara Graffmann,Lidia Larizza,Hermann-Josef Lüdecke,Milena Mariani,Maura Masciadri,Juan Pié,Feliciano J. Ramos,Silvia Russo,Angelo Selicorni,M Stefanova,Tim M. Strom,Ralf Werner,Jolanta Wierzba,Giuseppe Zampino,Gabriele Gillessen-Kaesbach,Dagmar Wieczorek,Frank J. Kaiser +29 more
TL;DR: Clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8 support the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction for patients with CdLS or Cd LS‐overlapping features.