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Author/Creator Nitsch, Lucio

1. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome. Issue 1 (15th November 2013)

Authors:
Terrone, Gaetano; Cappuccio, Gerarda; Genesio, Rita; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, Marina; Nitsch, Lucio; Brunetti‐Pierri, Nicola; Del Giudice, Ennio
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 1(2014.)
Page Start:
190
Record Type:
Journal Article
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2. A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. (November 2017)

Authors:
Terrone, Gaetano; Vitiello, Giuseppina; Genesio, Rita; D'Amico, Alessandra; Imperati, Floriana; Ugga, Lorenzo; Giugliano, Teresa; Piluso, Giulio; Nitsch, Lucio; Brunetti-Pierri, Nicola; Del Giudice, Ennio
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 6(2017:Nov.)
Page Start:
902
Record Type:
Journal Article
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3. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome. Issue 7 (30th April 2017)

Authors:
Casertano, Alberto; Fontana, Paolo; Hennekam, Raoul C.; Tartaglia, Marco; Genesio, Rita; Dieber, Tina Barbaro; Ortega, Lucia; Nitsch, Lucio; Melis, Daniela
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1896
Record Type:
Journal Article
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4. Complex chromosomal rearrangements causing Langer–Giedion syndrome atypical phenotype: Genotype–phenotype correlation and literature review. Issue 3 (19th December 2013)

Authors:
Cappuccio, Gerarda; Genesio, Rita; Ronga, Valentina; Casertano, Alberto; Izzo, Antonella; Riccio, Maria Pia; Bravaccio, Carmela; Salerno, Maria Carolina; Nitsch, Lucio; Andria, Generoso; Melis, Daniela
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 3(2014.)
Page Start:
753
Record Type:
Journal Article
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6. DiGeorge‐like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus. Issue 7 (24th April 2017)

Authors:
Cirillo, Emilia; Giardino, Giuliana; Gallo, Vera; Galasso, Giovanni; Romano, Roberta; D'Assante, Roberta; Scalia, Giulia; Del Vecchio, Luigi; Nitsch, Lucio; Genesio, Rita; Pignata, Claudio
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1913
Record Type:
Journal Article
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7. Erratum to: In vivo role of different domains and of phosphorylation in the transcription factor Nkx2-1. Issue 1 (December 2016)

Authors:
Silberschmidt, Daniel; Rodriguez-Mallon, Alina; Mithboakar, Prathiba; Calì, Gaetano; Amendola, Elena; Sanges, Remo; Zannini, Mariastella; Scarfò, Marzia; De Luca, Pasquale; Nitsch, Lucio; Di Lauro, Roberto; De Felice, Mario
Journal:
BMC developmental biology
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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8. M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA. (18th May 2020)

Authors:
Barone, Annarita; Iasevoli, Felice; Matrone, Marta; Filomena Buonaguro, Elisabetta; Falco, Mariateresa; Genesio, Rita; Pignataro, Piero; Capasso, Mario; Gambale, Antonella; Avagliano, Camilla; Razzino, Eugenio; Notar Francesco, Danilo; Ciccarelli, Mariateresa; Vitiello, Giuseppina; Andolfo, Immac...
Journal:
Schizophrenia bulletin
Issue:
Volume 46(2020)Supplement 1
Page Start:
S201
Record Type:
Journal Article
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9. Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells. (13th January 2017)

Authors:
Izzo, Antonella; Nitti, Maria; Mollo, Nunzia; Paladino, Simona; Procaccini, Claudio; Faicchia, Deriggio; Calì, Gaetano; Genesio, Rita; Bonfiglio, Ferdinando; Cicatiello, Rita; Polishchuk, Elena; Polishchuk, Roman; Pinton, Paolo; Matarese, Giuseppe; Conti, Anna; Nitsch, Lucio
Journal:
Human molecular genetics
Issue:
Volume 26:Number 6(2017:Mar. 15)
Page Start:
1056
Record Type:
Journal Article
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10. Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing. Issue 8 (3rd June 2016)

Authors:
Mozzillo, Enza; Cozzolino, Carla; Genesio, Rita; Melis, Daniela; Frisso, Giulia; Orrico, Ada; Lombardo, Barbara; Fattorusso, Valentina; Discepolo, Valentina; Della Casa, Roberto; Simonelli, Francesca; Nitsch, Lucio; Salvatore, Francesco; Franzese, Adriana
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
2196
Record Type:
Journal Article
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