Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Francesco Benedicenti"'
Autor:
Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh-Bergès, Karen J. Low, Anastassia Voronova
Publikováno v:
BMC Medicine, Vol 22, Iss 1, Pp 1-24 (2024)
Abstract ANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we
Externí odkaz:
https://doaj.org/article/e5bd30dce1194973adab02f96ce05861
Autor:
Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh‑Berges, Karen J. Low, Anastassia Voronova
Publikováno v:
BMC Medicine, Vol 22, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/614323ffd2784828aa1f4c577a2040cc
Autor:
Cecilia Cattelani, Ingrid Battistella, Francesca Di Leva, Giulia Fioravanti, Francesco Benedicenti, Franco Stanzial, Christine Schwienbacher, Francesca Fanelli, Peter P. Pramstaller, Andrew A. Hicks, Luciano Conti, Corrado Corti
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13095 (2022)
Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial features and
Externí odkaz:
https://doaj.org/article/6e5907e8f28d430db07c7fd1665fdc3c
Autor:
Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesion
Externí odkaz:
https://doaj.org/article/090f8b1a3bd1458ab3a2de336d5165b0
Autor:
Daria C Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0123092 (2015)
PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndr
Externí odkaz:
https://doaj.org/article/5e9db8d3b6bc440091a6a1de16ab9fcb
Autor:
Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by
Externí odkaz:
https://doaj.org/article/d91cd6b8cc794080b801e21e87e8f322
Autor:
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Publikováno v:
Human molecular genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history
Autor:
Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Chiara Pantaleoni, Stefano D'Arrigo, Franco Stanzial, Francesco Benedicenti, Mary A. Thomas, Miria Stefanini, Donata Orioli, Elena Botta
Publikováno v:
Human mutationREFERENCES. 43(12)
Trichothiodystrophy (TTD) is a rare hereditary disease whose prominent feature is brittle hair. Additional clinical signs are physical and neurodevelopmental abnormalities and in about half of the cases hypersensitivity to UV radiation. The photosens
Autor:
Maria Teresa Fadda, Sebastiano Bianca, Dario Cocciadiferro, Bruno Dallapiccola, Marina Goldoni, Maria Grazia Giuffrida, Bruno Marino, Silvana Briuglia, Marco Tartaglia, Leila B. Salehi, Valentina Guida, Francesca Forzano, Orazio Palumbo, Francesco Benedicenti, Francesco Pancheri, Franco Stanzial, Laura Bernardini, Daniela Melis, Marco Castori, Giorgio Iannetti, Teresa Mattina, Marianna Puzzo, Hossein Hozhabri, Chiara Barone, Massimo Carella, Carolina Putotto, Alessandro De Luca, Francesca Piceci Sparascio, Maria Cristina Digilio, Francesco Brancati, Mario Pagnoni, Ariana Kariminejad
Publikováno v:
Clinical Genetics. 100:268-279
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occ
Autor:
Klaus Eisendle, Francesco Benedicenti, Reinhard Kluge, Mario Puviani, Tobias Thuile, Maria Pichler
Publikováno v:
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 19:125-128