Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review
Agolini, E., Dentici, M.L., Bellacchio, E., Alesi, V., Radio, F.C., Torella, A., Musacchia, F., Tartaglia, M., Dallapiccola, B., Nigro, V., Digilio, M.C., Novelli, A.
Published in Clinical genetics (01.03.2018)
Published in Clinical genetics (01.03.2018)
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Journal Article
Phenytoin intoxication associated with omeprazole administration in a child with defective CYP2C9
Marano, M., Nicoletti, F., Pro, S., Goffredo, B. M., Cecchetti, C., Piervincenzi, E., Agolini, E., Cocciadiferro, D.
Published in European journal of clinical pharmacology (01.05.2020)
Published in European journal of clinical pharmacology (01.05.2020)
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Journal Article
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1
Rotunno, R., Diociaiuti, A., Agolini, E., Latorre, S., Carnevale, C., Novelli, A., El Hachem, M., Castori, M.
Published in Clinical and experimental dermatology (01.08.2019)
Published in Clinical and experimental dermatology (01.08.2019)
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Journal Article
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres
Rinelli, M., Bellacchio, E., Berardinelli, F., Pascolini, G., Grammatico, P., Sgura, A., Iori, A. P., Quattrocchi, L., Novelli, A., Majore, S., Agolini, E.
Published in Annals of hematology (01.03.2019)
Published in Annals of hematology (01.03.2019)
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Journal Article
Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres
Rinelli, M., Bellacchio, E., Berardinelli, F., Pascolini, G., Grammatico, P., Sgura, A., Iori, A. P., Quattrocchi, L., Novelli, A., Majore, S., Agolini, E.
Published in Annals of hematology (01.03.2019)
Published in Annals of hematology (01.03.2019)
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Journal Article
Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome
Piccinno, E., Ortolani, F., Vendemiale, M., Tummolo, A., Masciopinto, M., Natale, M.P., De Luca, A., Agolini, E., Aloi, C., Salina, A., D'Annunzio, G., Fischetto, R., Papadia, F.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Journal Article
Nectinopathies: an emerging group of ectodermal dysplasia syndromes
Brancati, F, Agolini, E, Fortugno, P
Published in Giornale italiano di dermatologia e venereologia (01.02.2013)
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Published in Giornale italiano di dermatologia e venereologia (01.02.2013)
Journal Article
P.04.15 THE DISCOVERY OF A NOVEL GENETIC MUTATION IN BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS WIDENS THE INSIGHTS INTO DISORDER RELATED-MOLECULAR ANALYSIS
Piazzolla, M., Castellaneta, N.M., Novelli, A., Agolini, E., Cocciadiferro, D., Resta, L., Ierardi, E., Di Leo, A.
Published in Digestive and liver disease (25.03.2019)
Published in Digestive and liver disease (25.03.2019)
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Journal Article
Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD 1
Rotunno, R., Diociaiuti, A., Agolini, E., Latorre, S., Carnevale, C., Novelli, A., El Hachem, M., Castori, M.
Published in Clinical and experimental dermatology (01.08.2019)
Published in Clinical and experimental dermatology (01.08.2019)
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Journal Article
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Jia, Xiangbin, Zhang, Shujie, Tan, Senwei, Du, Bing, He, Mei, Qin, Haisong, Chen, Jia, Duan, Xinyu, Luo, Jingsi, Chen, Fei, Ouyang, Luping, Wang, Jian, Chen, Guodong, Yu, Bin, Zhang, Ge, Zhang, Zimin, Lyu, Yongqing, Huang, Yi, Jiao, Jian, Chen, Jin Yun Helen, Swoboda, Kathryn J, Agolini, Emanuele, Novelli, Antonio, Leoni, Chiara, Zampino, Giuseppe, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Gerard, Benedicte, Ginglinger, Emmanuelle, Richer, Julie, McMillan, Hugh, White-Brown, Alexandre, Hoekzema, Kendra, Bernier, Raphael A, Kurtz-Nelson, Evangeline C, Earl, Rachel K, Meddens, Claartje, Alders, Marielle, Fuchs, Meredith, Caumes, Roseline, Brunelle, Perrine, Smol, Thomas, Kuehl, Ryan, Day-Salvatore, Debra-Lynn, Monaghan, Kristin G, Morrow, Michelle M, Eichler, Evan E, Hu, Zhengmao, Yuan, Ling, Tan, Jieqiong, Xia, Kun, Shen, Yiping, Guo, Hui
Published in Science advances (19.08.2022)
Published in Science advances (19.08.2022)
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Journal Article
Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres
Rinelli, M, Bellacchio, E, Berardinelli, F, Pascolini, G, Grammatico, P, Sgura, A, Iori, A P, Quattrocchi, L, Novelli, A, Majore, S, Agolini, E
Published in Annals of hematology (01.03.2019)
Published in Annals of hematology (01.03.2019)
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