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Subject 616.042

65. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Issue 8 (9th October 2018)

Authors:
Oliveira, Danyllo; Leal, Gabriela Ferraz; Sertié, Andréa L; Caires Jr, Luiz Carlos; Goulart, Ernesto; Musso, Camila Manso; Oliveira, João Ricardo Mendes de; Krepischi, Ana Cristina Victorino; Vianna-Morgante, Angela Maria; Zatz, Mayana
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 8(2019)
Page Start:
543
Record Type:
Journal Article
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66. 126 novel mutations in Italian patients with neurofibromatosis type 1. Issue 6 (7th July 2015)

Authors:
Bianchessi, Donatella; Morosini, Sara; Saletti, Veronica; Ibba, Maria Cristina; Natacci, Federica; Esposito, Silvia; Cesaretti, Claudia; Riva, Daria; Finocchiaro, Gaetano; Eoli, Marica
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 6(2015:Nov.)
Page Start:
513
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

68. 13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients. Issue 1 (5th January 2007)

Authors:
Ballarati, Lucia; Rossi, Elena; Bonati, Maria Teresa; Gimelli, Stefania; Maraschio, Paola; Finelli, Palma; Giglio, Sabrina; Lapi, Elisabetta; Bedeschi, Maria Francesca; Guerneri, Silvana; Arrigo, Giulia; Patricelli, Maria Grazia; Mattina, Teresa; Guzzardi, Oriana; Pecile, Vanna; Police, Adalgisa;...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 1(2007)
Page Start:
e60
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

70. 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies. Issue 7 (16th May 2020)

Authors:
Ponzi, Emanuela; Gentile, Mattia; Agolini, Emanuele; Matera, Emilia; Palumbi, Roberto; Buonadonna, Antonia Lucia; Peschechera, Antonia; Gabellone, Alessandra; Antonucci, Maria Fatima; Margari, Lucia
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 7(2020)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗