Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Milena mariani"'
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of
Externí odkaz:
https://doaj.org/article/44bd90137bd44131872e1f1eb901a15b
Autor:
Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aida Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, Angelo Selicorni, Valentina Massa
Publikováno v:
Cell Death Discovery, Vol 7, Iss 1, Pp 1-11 (2021)
Abstract Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the deregulation of develop
Externí odkaz:
https://doaj.org/article/d5e330991d9146b998a2e7f05f9332a2
Autor:
Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo, Palma Finelli
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial d
Externí odkaz:
https://doaj.org/article/0570ebe09aca4a4b9479ae0401ee1d6a
Autor:
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-8 (2017)
Abstract Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities in
Externí odkaz:
https://doaj.org/article/ad752bc918e94f2690e8834b68337f06
Publikováno v:
Medico e Bambino. 42:183-185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::647dc3723c71d468a94e74b3780d119d
https://doi.org/10.53126/meb42183
https://doi.org/10.53126/meb42183
Autor:
Angelo Selicorni, Francesca Dall'Ara, Anna Cereda, Milena Mariani, Maria Antonella Costantino, Paola Francesca Ajmone, Giovanni Michelini, Beatrice Allegri, Claudia Rigamonti, Paola Vizziello
Publikováno v:
Journal of Autism and Developmental Disorders. 52:4763-4773
Background: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder and its phenotype clinical expression is widely variable. Despite the growing interest on genotype-phenotype correlations and on behaviour phenotype of genetic syndromes, specif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f79a01b64f2a55eebe2d7168e588e0eb
https://doi.org/10.1007/s10803-021-05343-8
https://doi.org/10.1007/s10803-021-05343-8
Publikováno v:
Medico e Bambino. 42:119-120
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5124392a3300f631d728f72c3ec7618a
https://doi.org/10.53126/meb42119
https://doi.org/10.53126/meb42119
Autor:
Paola Cianci, Silvia Maitz, Maria Iascone, Anna Cereda, Angelo Selicorni, Milena Mariani, Piergiorgio Modena, Marzia Giagnacovo
Publikováno v:
Medico e Bambino. 40:291-301
Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::feb459f73ac7fd9e65f2b0f669366e7a
https://doi.org/10.53126/meb40291
https://doi.org/10.53126/meb40291
Autor:
Roberto Franceschi, Maria Iascone, Silvia Maitz, Daniela Marchetti, Milena Mariani, Angelo Selicorni, Massimo Soffiati, Evelina Maines
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(8)
Spondylo-epi-metaphyseal dysplasia Shohat type (SEMDSH, OMIM # 602557) is a rare skeletal dysplasia. Until recently, only eight patients of five families have been reported. The disorder is characterized by severely disproportionate short stature wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a44972260a92e980f28f3d9dd31c7d38
https://pubmed.ncbi.nlm.nih.gov/35670300
https://pubmed.ncbi.nlm.nih.gov/35670300