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Author/Creator Nardone, Anna Maria

1. Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype. Issue 4 (14th January 2021)

Authors:
Tedesco, Maria Giovanna; Lonardo, Fortunato; Ceccarini, Caterina; Cesarano, Carla; Digilio, Maria Cristina; Magliozzi, Monia; Rogaia, Daniela; Mencarelli, Amedea; Leoni, Chiara; Piscopo, Carmelo; Imperatore, Valentina; Falco, Maria Teresa; Fontana, Paolo; Nardone, Anna Maria; Novelli, Antonio; Tr...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 4(2021)
Page Start:
1204
Record Type:
Journal Article
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2. De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray‐based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly1. Issue 3 (7th February 2013)

Authors:
Resta, Nicoletta; De Cosmo, Lucrezia; Susca, Francesco Claudio; Capodiferro, Donatella; Nardone, Anna Maria; Pastorivo, Diana; Bertoli, Marta; Serlenga, Carmela; Burattini, MariaGabriella; Schettini, Federico; Laforgia, Nicola
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 3(2013:Mar.)
Page Start:
632
Record Type:
Journal Article
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3. First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation. Issue 1 (28th September 2016)

Authors:
Acquaviva, Fabio; Sana, Maria Elena; Della Monica, Matteo; Pinelli, Michele; Postorivo, Diana; Fontana, Paolo; Falco, Maria Teresa; Nardone, Anna Maria; Lonardo, Fortunato; Iascone, Maria; Scarano, Gioacchino
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
231
Record Type:
Journal Article
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4. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study). (30th November 2022)

Authors:
Grati, Francesca Romana; Bestetti, Ilaria; De Siero, Daria; Malvestiti, Francesca; Villa, Nicoletta; Sala, Elena; Crosti, Francesca; Parisi, Valentina; Nardone, Anna Maria; Di Giacomo, Gianluca; Pettinari, Antonella; Tortora, Giada; Montaldi, Annamaria; Calò, Annapaola; Saccilotto, Donatella; Zan...
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 13(2022)
Page Start:
1575
Record Type:
Journal Article
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5. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate. Issue 1 (18th December 2019)

Authors:
Catusi, Ilaria; Recalcati, Maria Paola; Bestetti, Ilaria; Garzo, Maria; Valtorta, Chiara; Alfonsi, Melissa; Alghisi, Alberta; Cappellani, Stefania; Casalone, Rosario; Caselli, Rossella; Ceccarini, Caterina; Ceglia, Carlo; Ciaschini, Anna Maria; Coviello, Domenico; Crosti, Francesca; D'Aprile, Ann...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 1(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis. (November 2014)

Authors:
Pietropolli, Adalgisa; Vicario, Roberta; Peconi, Cristina; Zampatti, Stefania; Quitadamo, Maria Chiara; Capogna, Maria Vittoria; Ragazzo, Michele; Nardone, Anna Maria; Postorivo, Diana; Spitalieri, Paola; Sarta, Simona; Ratto, Fabrizio; Novelli, Giuseppe; Sangiuolo, Federica; Piccione, Emilio; Gi...
Journal:
Journal of maternal-fetal & neonatal medicine
Issue:
Volume 27:Number 16(2014)
Page Start:
1656
Record Type:
Journal Article
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7. Tremor is a major feature of 9p13 deletion syndrome. Issue 11 (8th September 2020)

Authors:
Ferreira, Susana Isabel; Cinnirella, Giacomo; Ramos, Lina; Suppa, Antonio; Pires, Luís Miguel; Nardone, Anna Maria; Camerota, Letizia; Lanciotti, Silvia; Galasso, Cinzia; De Maio, Fernando; de Melo, Joana Barbosa; Carreira, Isabel Marques; Brancati, Francesco
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 11(2020)
Page Start:
2694
Record Type:
Journal Article
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