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Author/Creator Cesario, Claudia

2. A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations. Issue 7 (2nd May 2020)

Authors:
Pascolini, Giulia; Agolini, Emanuele; Fleischer, Nicole; Gulotta, Elisa; Cesario, Claudia; D'Elia, Gemma; Novelli, Antonio; Majore, Silvia; Grammatico, Paola
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 7(2020)
Page Start:
1791
Record Type:
Journal Article
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3. Expanding the KIF4A‐associated phenotype. Issue 12 (3rd August 2021)

Authors:
Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; Abdel‐Salam, Ghada M. H.; Alkuraya, Fowzan; Kato, Mitsuhiro; Matsumoto, Naomichi; Miyatake, Satoko; Yamamoto, Tatsuya; Fares‐Taie, Lucas; Rozet, Jean‐Michel; Chassaing, Nicolas; Vincent‐Delorme, Catherine; Kang‐Bellin, Anjeung; McWalter, Kirst...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3728
Record Type:
Journal Article
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4. KBG syndrome: Common and uncommon clinical features based on 31 new patients. Issue 5 (3rd March 2020)

Authors:
Gnazzo, Maria; Lepri, Francesca R; Dentici, Maria Lisa; Capolino, Rossella; Pisaneschi, Elisa; Agolini, Emanuele; Rinelli, Martina; Alesi, Viola; Versacci, Paolo; Genovese, Silvia; Cesario, Claudia; Sinibaldi, Lorenzo; Baban, Anwar; Bartuli, Andrea; Marino, Bruno; Cappa, Marco; Dallapiccola, Brun...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1073
Record Type:
Journal Article
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6. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Issue 9 (4th June 2021)

Authors:
Pirozzi, Filomena; Lee, Benson; Horsley, Nicole; Burkardt, Deepika D.; Dobyns, William B.; Graham, John M.; Dentici, Maria L.; Cesario, Claudia; Schallner, Jens; Porrmann, Joseph; Di Donato, Nataliya; Sanchez‐Lara, Pedro A.; Mirzaa, Ghayda M.
Other Names:
Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 9(2021)
Page Start:
2719
Record Type:
Journal Article
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7. Small 4p16.3 deletions: Three additional patients and review of the literature. Issue 11 (23rd September 2018)

Authors:
Bernardini, Laura; Radio, Francesca C.; Acquaviva, Fabio; Gorgone, Cristina; Postorivo, Diana; Torres, Barbara; Alesi, Viola; Magliozzi, Monia; Lonardo, Fortunato; Monica, Matteo Della; Nardone, Anna M.; Cesario, Claudia; Mattina, Teresa; Scarano, Gioacchino; Dallapiccola, Bruno; Digilio, Maria C...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2501
Record Type:
Journal Article
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8. Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome. Issue 12 (19th September 2022)

Authors:
Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
Journal:
Genes, chromosomes & cancer
Issue:
Volume 61:Issue 12(2022)
Page Start:
740
Record Type:
Journal Article
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9. Two new cases of nonepileptic neurodevelopmental disorder due to GRIN2B variants and detailed clinical description of the behavioral phenotype. Issue 2 (15th December 2021)

Authors:
Buonuomo, Paola Sabrina; Mastrogiorgio, Gerarda; Alfieri, Paolo; Terracciano, Alessandra; Cesario, Claudia; Rana, Ippolita; Macchiaiolo, Marina; Veronika Gonfiantini, Michaela; Vecchio, Davide; Cristina Digilio, Maria; Lisa Dentici, Maria; Cumbo, Francesca; Novelli, Antonio; Bartuli, Andrea
Journal:
Clinical dysmorphology
Issue:
Volume 31:Issue 2(2022)
Page Start:
74
Record Type:
Journal Article
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