Sfoglia per Autore
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
2021-01-01 Valencic, Erica; Da Lozzo, Prisca; Tornese, Gianluca; Ghirigato, Elena; Facca, Francesco; Piscianz, Elisa; Faletra, Flavio; Taddio, Andrea; Tommasini, Alberto; Magnolato, Andrea
When salt is needed to grow: Answers
2021-01-01 Conversano, E.; Romano, S.; Taddio, A.; Faletra, F.; Zanon, D.; Barbi, E.; Pennesi, M.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
2021-01-01 Radio, F. C.; Pang, K.; Ciolfi, A.; Levy, M. A.; Hernandez-Garcia, A.; Pedace, L.; Pantaleoni, F.; Liu, Z.; de Boer, E.; Jackson, A.; Bruselles, A.; Mcconkey, H.; Stellacci, E.; Lo Cicero, S.; Motta, M.; Carrozzo, R.; Dentici, M. L.; Mcwalter, K.; Desai, M.; Monaghan, K. G.; Telegrafi, A.; Philippe, C.; Vitobello, A.; Au, M.; Grand, K.; Sanchez-Lara, P. A.; Baez, J.; Lindstrom, K.; Kulch, P.; Sebastian, J.; Madan-Khetarpal, S.; Roadhouse, C.; Mackenzie, J. J.; Monteleone, B.; Saunders, C. J.; Jean Cuevas, J. K.; Cross, L.; Zhou, D.; Hartley, T.; Sawyer, S. L.; Monteiro, F. P.; Secches, T. V.; Kok, F.; Schultz-Rogers, L. E.; Macke, E. L.; Morava, E.; Klee, E. W.; Kemppainen, J.; Iascone, M.; Selicorni, A.; Tenconi, R.; Amor, D. J.; Pais, L.; Gallacher, L.; Turnpenny, P. D.; Stals, K.; Ellard, S.; Cabet, S.; Lesca, G.; Pascal, J.; Steindl, K.; Ravid, S.; Weiss, K.; Castle, A. M. R.; Carter, M. T.; Kalsner, L.; de Vries, B. B. A.; van Bon, B. W.; Wevers, M. R.; Pfundt, R.; Stegmann, A. P. A.; Kerr, B.; Kingston, H. M.; Chandler, K. E.; Sheehan, W.; Elias, A. F.; Shinde, D. N.; Towne, M. C.; Robin, N. H.; Goodloe, D.; Vanderver, A.; Sherbini, O.; Bluske, K.; Hagelstrom, R. T.; Zanus, C.; Faletra, F.; Musante, L.; Kurtz-Nelson, E. C.; Earl, R. K.; Anderlid, B. -M.; Morin, G.; van Slegtenhorst, M.; Diderich, K. E. M.; Brooks, A. S.; Gribnau, J.; Boers, R. G.; Finestra, T. R.; Carter, L. B.; Rauch, A.; Gasparini, P.; Boycott, K. M.; Barakat, T. S.; Graham, J. M.; Faivre, L.; Banka, S.; Wang, T.; Eichler, E. E.; Priolo, M.; Dallapiccola, B.; Vissers, L. E. L. M.; Sadikovic, B.; Scott, D. A.; Holder, J. L.; Tartaglia, M.
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003)
2021-01-01 Valencic, E.; Piscianz, E.; Sirchia, F.; Tommasini, A.; Faletra, F.; Todaro, F.; Spinelli, A. M.; Badolato, R.
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies
2021-01-01 Rispoli, Francesco; Valencic, Erica; Girardelli, Martina; Pin, Alessia; Tesser, Alessandra; Piscianz, Elisa; Boz, Valentina; Faletra, Flavio; Severini, Giovanni Maria; Taddio, Andrea; Tommasini, Alberto
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
2021-01-01 Pelletier, F.; Perrier, S.; Cayami, F. K.; Mirchi, A.; Saikali, S.; Tran, L. T.; Ulrick, N.; Guerrero, K.; Rampakakis, E.; van Spaendonk, R. M. L.; Naidu, S.; Pohl, D.; Gibson, W. T.; Demos, M.; Goizet, C.; Tejera-Martin, I.; Potic, A.; Fogel, B. L.; Brais, B.; Sylvain, M.; Sebire, G.; Lourenco, C. M.; Bonkowsky, J. L.; Catsman-Berrevoets, C.; Pinto, P. S.; Tirupathi, S.; Stromme, P.; de Grauw, T.; Gieruszczak-Bialek, D.; Krageloh-Mann, I.; Mierzewska, H.; Philippi, H.; Rankin, J.; Atik, T.; Banwell, B.; Benko, W. S.; Blaschek, A.; Bley, A.; Boltshauser, E.; Bratkovic, D.; Brozova, K.; Cimas, I.; Clough, C.; Corenblum, B.; Dinopoulos, A.; Dolan, G.; Faletra, F.; Fernandez, R.; Fletcher, J.; Garcia Garcia, M. E.; Gasparini, P.; Gburek-Augustat, J.; Gonzalez Moron, D.; Hamati, A.; Harting, I.; Hertzberg, C.; Hill, A.; Hobson, G. M.; Innes, A. M.; Kauffman, M.; Kirwin, S. M.; Kluger, G.; Kolditz, P.; Kotzaeridou, U.; La Piana, R.; Liston, E.; Mcclintock, W.; Mcentagart, M.; Mckenzie, F.; Melancon, S.; Misbahuddin, A.; Suri, M.; Monton, F. I.; Moutton, S.; Murphy, R. P. J.; Nickel, M.; Onay, H.; Orcesi, S.; Ozkinay, F.; Patzer, S.; Pedro, H.; Pekic, S.; Pineda Marfa, M.; Pizzino, A.; Plecko, B.; Poll-The, B. T.; Popovic, V.; Rating, D.; Rioux, M. -F.; Rodriguez Espinosa, N.; Ronan, A.; Ostergaard, J. R.; Rossignol, E.; Sanchez-Carpintero, R.; Schossig, A.; Senbil, N.; Sonderberg Roos, L. K.; Stevens, C. A.; Synofzik, M.; Sztriha, L.; Tibussek, D.; Timmann, D.; Tonduti, D.; van de Warrenburg, B. P.; Vazquez-Lopez, M.; Venkateswaran, S.; Wasling, P.; Wassmer, E.; Webster, R. I.; Wiegand, G.; Yoon, G.; Rotteveel, J.; Schiffmann, R.; van der Knaap, M. S.; Vanderver, A.; Martos-Moreno, G. A.; Polychronakos, C.; Wolf, N. I.; Bernard, G.
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis
2022-01-01 Persico, I.; Feresin, A.; Faleschini, M.; Fontana, G.; Sirchia, F.; Faletra, F.; La Bianca, M.; Suergiu, S.; Morgutti, M.; Maschio, M.; D'Adamo, A. P.; Raraigh, K.; Savoia, A.; Bottega, R.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
2022-01-01 Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling
2022-01-01 Feresin, Agnese; Stampalija, Tamara; Cappellani, Stefania; Bussani, Rossana; Faletra, Flavio; Murru, Flora; Ulivi, Sheila; Suergiu, Sarah; Savarese, Pasquale; Pedicini, Antonio; Policicchio, Margherita; Ruggiero, Raffaella; Bosio, Barbara; Savarese, Giovanni; Ardisia, Carmela
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry
2022-01-01 Dibello, Daniela; Torelli, Lucio; Di Carlo, Valentina; D’Adamo, Adamo Pio; Faletra, Flavio; Mangogna, Alessandro; Colin, Giulia
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss
2022-01-01 Morgan, A.; Faletra, F.; Severi, G.; La Bianca, M.; Licchetta, L.; Gasparini, P.; Graziano, C.; Girotto, G.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
2022-01-01 Musante, Luciana; Costa, Paola; Zanus, Caterina; Faletra, Flavio; Murru, Flora M.; Bianco, Anna M.; La Bianca, Martina; Ragusa, Giulia; Athanasakis, Emmanouil; D’Adamo, Adamo P.; Carrozzi, Marco; Gasparini, Paolo
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures
2022-01-01 Spedicati, Beatrice; Morgan, Anna; Pianigiani, Giulia; Musante, Luciana; Rubinato, Elisa; Santin, Aurora; Nardone, Giuseppe Giovanni; Faletra, Flavio; Girotto, Giorgia
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study
2022-01-01 Bianco, Anna Monica; Ragusa, Giulia; Di Carlo, Valentina; Faletra, Flavio; Di Stazio, Mariateresa; Racano, Costantina; Trisolino, Giovanni; Cappellani, Stefania; De Pellegrin, Maurizio; D’Addetta, Ignazio; Carluccio, Giuseppe; Monforte, Sergio; Andreacchio, Antonio; Dibello, Daniela; D’Adamo, Adamo P.
Infant with a big head and 'crossed' polysyndactyly
2023-01-01 Tamaro, Gianluca; Baldo, Francesco; Spedicati, Beatrice; Taddio, Andrea; Faletra, Flavio; Barbi, Egidio
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature
2023-01-01 Fantasia, Ilaria; Faletra, Flavio; Bussani, Rossana; Murru, Flora Maria; Ottaviani Giammarco, Chiara; Travan, Laura; Sirchia, Fabio; Feresin, Agnese; Stampalija, Tamara
The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles
2023-01-01 Fantasia, Ilaria; Catagini, Silvia; Zamagni, Giulia; Greco, Pantaleo; Bianchini, Irene; Bussolaro, Sofia; Quadrifoglio, Mariachiara; Lo Bello, Leila; Monasta, Lorenzo; Ricci, Giuseppe; Faletra, Flavio; Feresin, Agnese; Stampalija, Tamara
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
2023-01-01 Di Stazio, Mariateresa; Zanus, Caterina; Faletra, Flavio; Pesaresi, Alessia; Ziccardi, Ilaria; Morgan, Anna; Girotto, Giorgia; Costa, Paola; Carrozzi, Marco; D’Adamo, Adamo P.; Musante, Luciana
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