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Author/Creator Calacci, Chiara

1. A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. Issue 8 (30th May 2019)

Authors:
Alesi, Viola; Loddo, Sara; Calì, Federica; Orlando, Valeria; Genovese, Silvia; Ferretti, Daniele; Calacci, Chiara; Calvieri, Giusy; Falasca, Roberto; Ulgheri, Lucia; Drago, Fabrizio; Dallapiccola, Bruno; Baban, Anwar; Novelli, Antonio
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 8(2019)
Page Start:
1615
Record Type:
Journal Article
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2. An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome. Issue 12 (5th October 2018)

Authors:
Alesi, Viola; Capolino, Rossella; Genovese, Silvia; Capriati, Teresa; Loddo, Sara; Calvieri, Giusy; Calacci, Chiara; Diociaiuti, Andrea; Diamanti, Antonella; Novelli, Antonio; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2781
Record Type:
Journal Article
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3. Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile. Issue 1 (24th October 2020)

Authors:
Alesi, Viola; Loddo, Sara; Orlando, Valeria; Genovese, Silvia; Di Tommaso, Silvia; Liambo, Maria Teresa; Pompili, Daniele; Ferretti, Daniele; Calacci, Chiara; Catino, Giorgia; Falasca, Roberto; Dentici, Maria Lisa; Novelli, Antonio; Digilio, Maria Cristina; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 1(2021)
Page Start:
242
Record Type:
Journal Article
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4. Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome. (10th October 2018)

Authors:
Alesi, Viola; Dentici, Maria Lisa; Loddo, Sara; Genovese, Silvia; Orlando, Valeria; Calacci, Chiara; Pompili, Daniele; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio
Journal:
Annals of human genetics
Issue:
Volume 83:Number 2(2019:Mar.)
Page Start:
100
Record Type:
Journal Article
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5. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister–Killian syndrome. Issue 7 (10th May 2017)

Authors:
Alesi, Viola; Dentici, Maria L.; Restaldi, Fabrizia; Orlando, Valeria; Liambo, Maria T.; Calacci, Chiara; Capolino, Rossella; Digilio, Maria C.; El Hachem, May; Novelli, Antonio; Diociaiuti, Andrea; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 7(2017)
Page Start:
1943
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. An additional patient with a homozygous mutation in DCPS contributes to the delination of Al‐Raqad syndrome. Issue 12 (5th October 2018)

Authors:
Alesi, Viola; Capolino, Rossella; Genovesea, Silvia; Capriati, Teresa; Loddo, Sara; Calvieri, Giusy; Calacci, Chiara; Diociaiuti, Andrea; Diamanti, Antonella; Novelli, Antonio; Dallapiccola, Bruno
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2781
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders. (17th August 2021)

Authors:
Bauleo, Alessia; Montesanto, Alberto; Pace, Vincenza; Brando, Rossella; De Stefano, Laura; Puntorieri, Domenica; Cento, Luca; Loddo, Sara; Calacci, Chiara; Novelli, Antonio; Falcone, Elena
Journal:
Psychiatric genetics
Issue:
Volume 31:Number 6(2021)
Page Start:
239
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗