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Author/Creator Fabretto, Antonella

1. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference. (January 2018)

Authors:
Trimouille, Aurélien; Houcinat, Nada; Vuillaume, Marie-Laure; Fergelot, Patricia; Boucher, Cécile; Toutain, Jérôme; Caignec, Cédric; Vincent, Marie; Nizon, Mathilde; Andrieux, Joris; Vanlerberghe, Clémence; Delobel, Bruno; Duban, Bénédicte; Mansour, Sahar; Baple, Emma; McKeown, Colina; Poke, Gemm...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
85
Record Type:
Journal Article
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3. Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis. Issue 3 (9th January 2019)

Authors:
Bottega, Roberta; Cappellani, Stefania; Fabretto, Antonella; Spinelli, Alessandro Mauro; Severini, Giovanni Maria; Aloisio, Michelangelo; Faleschini, Michela; Athanasakis, Emmanouil; Bruno, Irene; Faletra, Flavio; Pecile, Vanna
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 3(2019)
Page Start:
n/a
Record Type:
Journal Article
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4. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement. Issue 4 (April 2021)

Authors:
Urso, Emanuele Damiano Luca; Ponz de Leon, Maurizio; Vitellaro, Marco; Piozzi, Guglielmo Niccolò; Bao, Quoc Riccardo; Martayan, Aline; Remo, Andrea; Stigliano, Vittoria; Oliani, Cristina; Lucci Cordisco, Emanuela; Pucciarelli, Salvatore; Ranzani, Guglielmina Nadia; Viel, Alessandra; Adami, France...
Journal:
Digestive and liver disease
Issue:
Volume 53:Issue 4(2021)
Page Start:
409
Record Type:
Journal Article
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5. Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection. Issue 1 (4th December 2013)

Authors:
Athanasakis, Emmanouil; Licastro, Danilo; Faletra, Flavio; Fabretto, Antonella; Dipresa, Savina; Vozzi, Diego; Morgan, Anna; d'Adamo, Adamo P.; Pecile, Vanna; Biarnés, Xevi; Gasparini, Paolo
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 1(2014.)
Page Start:
170
Record Type:
Journal Article
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6. Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling. (1st August 2014)

Authors:
Naviglio, Samuele; Arrigo, Serena; Martelossi, Stefano; Villanacci, Vincenzo; Tommasini, Alberto; Loganes, Claudia; Fabretto, Antonella; Vignola, Silvia; Lonardi, Silvia; Ventura, Alessandro
Journal:
Journal of Crohn's and colitis
Issue:
Volume 8:Number 8(2014)
Page Start:
770
Record Type:
Journal Article
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7. 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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