IRIS

RUGGIERI, MARTINO

RUGGIERI, MARTINO  

MEDICINA CLINICA E SPERIMENTALE  

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Titolo Data di pubblicazione Autore(i) File
121 novel mutations revealed by DHPLC analysis of the neurofibromatosis type 1 (NF1) gene in southern Italian NF1 patients 1-gen-2003 A. L., Gabriele; Ruggieri, Martino; G., Peluso; T., Sprovieri; A., Patitucci; A., Magariello; M., Muglia file da validare
7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review 1-gen-2019 Pavone, P.; Corsello, G.; Marino, S. D.; Ruggieri, M.; Falsaperla, R. file da validare
A boy born with multiple lesions of atrophoderma 1-gen-2010 Pavone, P; Romantshik, O; Caltabiano, Rosario; Micali, Giuseppe; DE PASQUALE, Rocco; Pavone, L; Ruggieri, Martino
A case of extreme brain lesion: which pathogenetic mechanism? 1-gen-2003 Pavone, P; Ruggieri, Martino; Rizzo, Renata; Parano, E; Pero, G. file da validare
A case of extreme brain lesions: Which pathogenetic mechanism? 1-gen-2003 Pavone, P; Ruggieri, Martino; Rizzo, Renata; Pero, G. file da validare
A child with congenital heart disease and situs viscerum inversus 1-gen-2008 Pavone, P; Praticò, Ad; DI GIORGIO, A; Incorpora, G; Ruggieri, Martino file da validare
A child with rhombencephalosynapsis, agenesis of the trigeminal ganglion and optic coloboma (without alopecia): A variant of the cerebellotrigeminal dermal dysplasia? 1-gen-2020 Sullo, F.; Palmucci, S.; Polizzi, A.; Ruggieri, M.; Pratico, A. D.
A clinical and molecular study in a child under 1 year of age affected by Neurofibromatosis type 2 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; G., DI PALMA; M., Muglia; A., Quattrone file da validare
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment 1-gen-2017 Pavone, Piero; Praticò, Andrea Domenico; Rizzo, Renata; Corsello, Giovanni; Ruggieri, Martino; Parano, Enrico; Falsaperla, Raffaele
A Complex Brain Malformation Syndrome with Rhombencephalosynapsis, Preaxial Hexadactyly plus Facial and Skull Anomalies 1-gen-2005 Pavone, P; Incorpora, G; Ruggieri, Martino
A de novo 0.63 Mb 6q25.1 deletion associated to growth failure, congenital heart defect, underdeveloped cerebellar vermis and abnormal cutaneous elasticity and joint laxity 1-gen-2015 Salpietro, V; Ruggieri, M; Mankad, K; Di Rosa, G; Granata, Francesco; Loddo, Italia; Moschella, E; Calabrò, Mp; Capalbo, A; Bernardini, L; Novelli, A; Seidler, Dg; Polizzi, A; Arrigo, T; Briuglia, S
A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review 1-gen-2016 Pavone, P; Praticò, Ad; Falsaperla, R; Ruggieri, Martino; Neri, G; Pavone, Vito; Zollino, M.
A highly sensitive colorimetric approach based on tris (bipyridine) Ruthenium (II/III) mediator for the enzymatic detection of phenylalanine 1-gen-2023 Messina, Maria Anna; Maugeri, Ludovica; Forte, Giuseppe; Ruggieri, Martino; Petralia, Salvatore file da validare
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas 1-gen-2017 Caltabiano, Rosario; Magro, Gaetano; Polizzi, Agata; Praticó, Andrea Domenico; Ortensi, Andrea; D’Orazi, Valerio; Panunzi, Andrea; Milone, Pietro; Maiolino, Luigi; Nicita, Francesco; Capone, Gabriele Lorenzo; Sestini, Roberta; Paganini, Irene; Muglia, Mariella; Cavallaro, Sebastiano; Lanzafame, Salvatore; Papi, Laura; Ruggieri, Martino
A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features 1-gen-2016 Pavone, P; Praticò, Ad; Gentile, G; Falsaperla, R; Iemmolo, R; Guarnaccia, M; Cavallaro, S; Ruggieri, Martino
A New Patient with Potocki-Lupski Syndrome: A Literature Review 1-gen-2018 Praticò, Andrea Domenico; Falsaperla, Raffaele; Rizzo, Renata; Ruggieri, Martino; Verrotti, Alberto; Pavone, Piero file da validare
A novel GABRB3 variant in Dravet syndrome: Case report and literature review 1-gen-2020 Pavone, P.; Pappalardo, X. G.; Marino, S. D.; Sciuto, L.; Corsello, G.; Ruggieri, M.; Parano, E.; Piccione, M.; Falsaperla, R. file da validare
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; M., Muglia; A., Quattronea file da validare
A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father 1-gen-2007 Al, Gabriele; Ruggieri, Martino; C., Nucifora; A., Patitucci; T., Sprovieri; A., Magariello; R., Mazzei; Fl, Conforti; C., Ungaro; M., Muglia; A., Quattrone file da validare
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 1-gen-2011 Gabriele, Al; Ruggieri, Martino; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Muglia, M; Ungaro, C; DI PALMA, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A.