11573/1671766 - 2022 -
Atypical variants in {COL}1A1 and {COL}3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports Colman, Marlies; Castori, Marco; Micale, Lucia; Ritelli, Marco; Colombi, Marina; Ghali, Neeti; Van Dijk, Fleur; Marsili, Luisa; Weeks, Adrienne; Vandersteen, Anthony; Rideout, Andrea; Legrand, Anne; Frank, Michael; Mirault, Tristan; Ferraris, Alessandro; Di Giosaffatte, Niccolo'; Grammatico, Paola; Grunert, Juergen; Frank, Charissa; Symoens, Sofie; Syx, Delfien; Malfait, Fransiska - 01a Articolo in rivista
rivista: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY (Pisa: Clinical and Experimental Rheumatology.) pp. S46-S62 - issn: 1593-098X - wos: WOS:000799906400007 (8) - scopus: 2-s2.0-85130360836 (8)
11573/1648120 - 2022 -
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman Di Giosaffatte, N; Bottillo, I; Laino, L; Iaquinta, G; Ferraris, A; Garzia, M; Bargiacchi, S; Mulargia, C; Angelitti, Mr; Palumbo, F; Grammatico, B; Bartolelli, C; Salerno, Mg; Rigacci, L; Grammatico, P - 01a Articolo in rivista
rivista: PRENATAL DIAGNOSIS (John Wiley & Sons Limited:1 Oldlands Way, Bognor Regis, P022 9SA United Kingdom:011 44 1243 779777, EMAIL: cs-journals@wiley.co.uk, INTERNET: http://www.wiley.co.uk, Fax: 011 44 1243 843232) pp. - - issn: 0197-3851 - wos: WOS:000791748900001 (0) - scopus: 2-s2.0-85133835472 (1)
11573/1663105 - 2022 -
Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? Di Giosaffatte, Niccolò; Ferraris, Alessandro; Gaudioso, Federica; Lodato, Valentina; Savino, Emanuele; Celletti, Claudia; Camerota, Filippo; Bargiacchi, Simone; Laino, Luigi; Majore, Silvia; Bottillo, Irene; Grammatico, Paola - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. 2358- - issn: 2073-4425 - wos: WOS:000901248700001 (2) - scopus: 2-s2.0-85144538958 (2)
11573/1652497 - 2022 -
A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report Di Giosaffatte, Niccolò; Valiante, Michele; Tricarico, Stefano; Parise, Giulia; De Negri, Anna Maria; Ricciotti, Guido; Florean, Lara; Paiardini, Alessandro; Bottillo, Irene; Grammatico, Paola - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000831455900001 (2) - scopus: 2-s2.0-85135136310 (3)
11573/1627270 - 2022 -
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB Pascolini, G.; Passarelli, C.; Lipari, M.; Chandramouli, B.; Chillemi, G.; Di Giosaffatte, N.; Novelli, A.; Grammatico, P. - 01a Articolo in rivista
rivista: CLINICAL GENETICS (Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: agentservices@oxon.blackwellpublishing.com, INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377) pp. 377-378 - issn: 0009-9163 - wos: WOS:000735173700001 (1) - scopus: 2-s2.0-85121714561 (1)
11573/1627276 - 2021 -
Clinical and molecular aspects of the neurodevelopmental disorder associated with PAK3 perturbation Pascolini, G.; Gaudioso, F.; Passarelli, C.; Novelli, A.; Di Giosaffatte, N.; Majore, S.; Grammatico, P. - 01i Case report
rivista: JOURNAL OF MOLECULAR NEUROSCIENCE (Humana Press Incorporated:999 Riverview Drive, Suite 208:Totowa, NJ 07512:(973)256-1699, EMAIL: lglasner@humanapr.com, INTERNET: http://www.humanapress.com, Fax: (973)256-8341) pp. 2474-2481 - issn: 0895-8696 - wos: WOS:000669776200002 (3) - scopus: 2-s2.0-85109334014 (3)
11573/1645427 - 2021 -
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort Scott, A.; Di Giosaffatte, N.; Pinna, V.; Daniele, P.; Corno, S.; D'ambrosio, V.; Andreucci, E.; Marozza, A.; Sirchia, F.; Tortora, G.; Mangiameli, D.; Di Marco, C.; Romagnoli, M.; Donati, I.; Zonta, A.; Grosso, E.; Naretto, V. G.; Mastromoro, G.; Versacci, P.; Pantaleoni, F.; Radio, F. C.; Mazza, T.; Damante, G.; Papi, L.; Mattina, T.; Giancotti, A.; Pizzuti, A.; Laberge, A. -M.; Tartaglia, M.; Delrue, M. -A.; De Luca, A. - 01a Articolo in rivista
rivista: GENETICS IN MEDICINE (New York: Elsevier
Baltimore MD: Williams & Wilkins) pp. 1116-1124 - issn: 1098-3600 - wos: WOS:000616885000001 (17) - scopus: 2-s2.0-85100976858 (18)
11573/1278927 - 2019 -
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolo'; Petrini, Stefania; Mazza, Tommaso; D'ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tartaglia, Marco; De Luca, Alessandro - 01a Articolo in rivista
rivista: HUMAN MUTATION (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 1-11 - issn: 1059-7794 - wos: WOS:000480595600006 (16) - scopus: 2-s2.0-85070601884 (16)
11573/1310020 - 2019 -
Prevalence, type, and molecular spectrum of NF1 mutations in patients with neurofibromatosis type 1 and congenital heart disease Pinna, Valentina; Daniele, Paola; Calcagni, Giulio; Mariniello, Lucio; Criscione, Roberta; Giardina, Chiara; Lepri, Francesca Romana; Hozhabri, Hossein; Alberico, Angela; Cavone, Stefania; Morella, Annunziata Tina; Mandile, Roberta; Annunziata, Francesca; Di Giosaffatte, Niccolò; D'asdia, Maria Cecilia; Versacci, Paolo; Capolino, Rossella; Strisciuglio, Pietro; Giustini, Sandra; Melis, Daniela; Digilio, Maria Cristina; Tartaglia, Marco; Marino, Bruno; De Luca, Alessandro - 01a Articolo in rivista
rivista: GENES (Basel : Molecular Diversity Preservation International) pp. - - issn: 2073-4425 - wos: WOS:000487954700065 (14) - scopus: 2-s2.0-85071740488 (19)