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Author/Creator Villa, Roberta

1. An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis. Issue 6 (14th October 2020)

Authors:
Errichiello, Edoardo; Arossa, Alessia; Iasci, Angela; Villa, Roberta; Ischia, Benedetta; Pavesi, Maria Angela; Rizzuti, Tommaso; Bedeschi, Maria Francesca; Zuffardi, Orsetta
Journal:
Clinical genetics
Issue:
Volume 98:Issue 6(2020)
Page Start:
628
Record Type:
Journal Article
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2. Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients. Issue 1 (18th October 2022)

Authors:
Ghisleni, Cecilia; Parma, Barbara; Cianci, Paola; De Paoli, Anita; Pangallo, Elisabetta; Agovino, Teresa; Cereda, Anna; Bedeschi, Maria Francesca; Villa, Roberta; Fossati, Chiara; Modena, Piergiorgio; Giudici, Carolina; Morando, Carla; Memo, Luigi; Onesimo, Roberta; Zampino, Giuseppe; Salvatore, ...
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 1(2023)
Page Start:
84
Record Type:
Journal Article
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3. Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases. Issue 2 (23rd November 2022)

Authors:
Rimoldi, Martina; Rinaldi, Berardo; Villa, Roberta; Cerasani, Jacopo; Beltrami, Benedetta; Iascone, Maria; Silipigni, Rosamaria; Boito, Simona; Gangi, Silvana; Colombo, Lorenzo; Porro, Matteo; Cesaretti, Claudia; Bedeschi, Maria Francesca
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 2(2023)
Page Start:
605
Record Type:
Journal Article
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4. Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome. (27th May 2022)

Authors:
Rinaldi, Berardo; Cesaretti, Claudia; Boito, Simona; Villa, Roberta; Guerneri, Silvana; Borzani, Irene; Rizzuti, Tommaso; Marchetti, Daniela; Conte, Giorgio; Cinnante, Claudia; Triulzi, Fabio; Persico, Nicola; Iascone, Maria; Natacci, Federica
Other Names:
Van den Veyver Igna guestEditor.
Journal:
Prenatal diagnosis
Issue:
Volume 42:Number 7(2022)
Page Start:
927
Record Type:
Journal Article
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5. Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?. Issue 8 (22nd August 2022)

Authors:
Beltrami, Benedetta; Cerasani, Jacopo; Consales, Alessandra; Villa, Roberta; Resta, Nicoletta; Loconte, Daria Carmela; Boito, Simona; Caschera, Luca; Bassi, Laura; Colombo, Lorenzo; Iascone, Maria; Bedeschi, Maria Francesca
Journal:
Clinical case reports
Issue:
Volume 10:Issue 8(2022)
Page Start:
n/a
Record Type:
Journal Article
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6. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. (November 2017)

Authors:
Ciammola, Andrea; Carrera, Paola; Di Fonzo, Alessio; Sassone, Jenny; Villa, Roberta; Poletti, Barbara; Ferrari, Maurizio; Girotti, Floriano; Monfrini, Edoardo; Buongarzone, Gabriele; Silani, Vincenzo; Cinnante, Claudia Maria; Mignogna, Maria Lidia; D'Adamo, Patrizia; Bonati, Maria Teresa
Journal:
Parkinsonism & related disorders
Issue:
Volume 44(2017)
Page Start:
142
Record Type:
Journal Article
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