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Defining language disorders in children and adolescents with Noonan Syndrome. [electronic resource] by
- Lazzaro, Giulia
- Caciolo, Cristina
- Menghini, Deny
- Cumbo, Francesca
- Digilio, Maria C
- Capolino, Rossella
- Zampino, Giuseppe
- Tartaglia, Marco
- Vicari, Stefano
- Alfieri, Paolo
Producer: 20210402
In:
Molecular genetics & genomic medicine vol. 8
Availability: No items available.
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Expanding the clinical spectrum associated with PACS2 mutations. [electronic resource] by
- Dentici, Maria L
- Barresi, Sabina
- Niceta, Marcello
- Ciolfi, Andrea
- Trivisano, Marina
- Bartuli, Andrea
- Digilio, Maria C
- Specchio, Nicola
- Dallapiccola, Bruno
- Tartaglia, Marco
Producer: 20200518
In:
Clinical genetics vol. 95
Availability: No items available.
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9.
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Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. [electronic resource] by
- Michielon, Guido
- Marino, Bruno
- Formigari, Roberto
- Gargiulo, Gaetano
- Picchio, Fernando
- Digilio, Maria C
- Anaclerio, Silvia
- Oricchio, Gianluca
- Sanders, Stephen P
- Di Donato, Roberto M
Producer: 20060908
In:
The Annals of thoracic surgery vol. 81
Availability: No items available.
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10.
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Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization. [electronic resource] by
- Alesi, Viola
- Orlando, Valeria
- Genovese, Silvia
- Loddo, Sara
- Pisaneschi, Elisa
- Pompili, Daniele
- Surace, Cecilia
- Restaldi, Fabrizia
- Digilio, Maria C
- Dallapiccola, Bruno
- Dentici, Maria L
- Novelli, Antonio
Producer: 20170914
In:
Cytogenetic and genome research vol. 151
Availability: No items available.
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11.
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First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder. [electronic resource] by
- Loddo, Sara
- Alesi, Viola
- Genovese, Silvia
- Orlando, Valeria
- Calacci, Chiara
- Restaldi, Fabrizia
- Pompili, Daniele
- Liambo, Maria T
- Digilio, Maria C
- Dallapiccola, Bruno
- Dentici, Maria L
- Novelli, Antonio
Publication details: Cytogenetic and genome research 2018
In:
Cytogenetic and genome research vol. 156
Availability: No items available.
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12.
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SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. [electronic resource] by
- Baban, Anwar
- Olivini, Nicole
- Lepri, Francesca Romana
- Calì, Federica
- Mucciolo, Mafalda
- Digilio, Maria C
- Calcagni, Giulio
- di Mambro, Corrado
- Dallapiccola, Bruno
- Adorisio, Rachele
- Novelli, Antonio
- Drago, Fabrizio
Producer: 20200803
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
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13.
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Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. [electronic resource] by
- 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
Publication details: American journal of medical genetics. Part A Jul 2017
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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14.
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Small 4p16.3 deletions: Three additional patients and review of the literature. [electronic resource] by
- 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
- Novelli, Antonio
Producer: 20190925
In:
American journal of medical genetics. Part A vol. 176
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Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. [electronic resource] by
- Martinelli, Simone
- Stellacci, Emilia
- Pannone, Luca
- D'Agostino, Daniela
- Consoli, Federica
- Lissewski, Christina
- Silvano, Marianna
- Cencelli, Giulia
- Lepri, Francesca
- Maitz, Silvia
- Pauli, Silke
- Rauch, Anita
- Zampino, Giuseppe
- Selicorni, Angelo
- Melançon, Serge
- Digilio, Maria C
- Gelb, Bruce D
- De Luca, Alessandro
- Dallapiccola, Bruno
- Zenker, Martin
- Tartaglia, Marco
Producer: 20160427
In:
Human mutation vol. 36
Availability: No items available.
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16.
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Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome. [electronic resource] by
- Pannone, Luca
- Bocchinfuso, Gianfranco
- Flex, Elisabetta
- Rossi, Cesare
- Baldassarre, Giuseppina
- Lissewski, Christina
- Pantaleoni, Francesca
- Consoli, Federica
- Lepri, Francesca
- Magliozzi, Monia
- Anselmi, Massimiliano
- Delle Vigne, Silvia
- Sorge, Giovanni
- Karaer, Kadri
- Cuturilo, Goran
- Sartorio, Alessandro
- Tinschert, Sigrid
- Accadia, Maria
- Digilio, Maria C
- Zampino, Giuseppe
- De Luca, Alessandro
- Cavé, Hélène
- Zenker, Martin
- Gelb, Bruce D
- Dallapiccola, Bruno
- Stella, Lorenzo
- Ferrero, Giovanni B
- Martinelli, Simone
- Tartaglia, Marco
Producer: 20180109
In:
Human mutation vol. 38
Availability: No items available.
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17.
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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. [electronic resource] by
- Martinelli, Simone
- De Luca, Alessandro
- Stellacci, Emilia
- Rossi, Cesare
- Checquolo, Saula
- Lepri, Francesca
- Caputo, Viviana
- Silvano, Marianna
- Buscherini, Francesco
- Consoli, Federica
- Ferrara, Grazia
- Digilio, Maria C
- Cavaliere, Maria L
- van Hagen, Johanna M
- Zampino, Giuseppe
- van der Burgt, Ineke
- Ferrero, Giovanni B
- Mazzanti, Laura
- Screpanti, Isabella
- Yntema, Helger G
- Nillesen, Willy M
- Savarirayan, Ravi
- Zenker, Martin
- Dallapiccola, Bruno
- Gelb, Bruce D
- Tartaglia, Marco
Producer: 20100901
In:
American journal of human genetics vol. 87
Availability: No items available.
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18.
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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. [electronic resource] by
- Sarkozy, Anna
- Carta, Claudio
- Moretti, Sonia
- Zampino, Giuseppe
- Digilio, Maria C
- Pantaleoni, Francesca
- Scioletti, Anna Paola
- Esposito, Giorgia
- Cordeddu, Viviana
- Lepri, Francesca
- Petrangeli, Valentina
- Dentici, Maria L
- Mancini, Grazia M S
- Selicorni, Angelo
- Rossi, Cesare
- Mazzanti, Laura
- Marino, Bruno
- Ferrero, Giovanni B
- Silengo, Margherita Cirillo
- Memo, Luigi
- Stanzial, Franco
- Faravelli, Francesca
- Stuppia, Liborio
- Puxeddu, Efisio
- Gelb, Bruce D
- Dallapiccola, Bruno
- Tartaglia, Marco
Producer: 20090706
In:
Human mutation vol. 30
Availability: No items available.
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19.
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. [electronic resource] by
- Pandit, Bhaswati
- Sarkozy, Anna
- Pennacchio, Len A
- Carta, Claudio
- Oishi, Kimihiko
- Martinelli, Simone
- Pogna, Edgar A
- Schackwitz, Wendy
- Ustaszewska, Anna
- Landstrom, Andrew
- Bos, J Martijn
- Ommen, Steve R
- Esposito, Giorgia
- Lepri, Francesca
- Faul, Christian
- Mundel, Peter
- López Siguero, Juan P
- Tenconi, Romano
- Selicorni, Angelo
- Rossi, Cesare
- Mazzanti, Laura
- Torrente, Isabella
- Marino, Bruno
- Digilio, Maria C
- Zampino, Giuseppe
- Ackerman, Michael J
- Dallapiccola, Bruno
- Tartaglia, Marco
- Gelb, Bruce D
Producer: 20070919
In:
Nature genetics vol. 39
Availability: No items available.
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20.
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. [electronic resource] by
- Cordeddu, Viviana
- Di Schiavi, Elia
- Pennacchio, Len A
- Ma'ayan, Avi
- Sarkozy, Anna
- Fodale, Valentina
- Cecchetti, Serena
- Cardinale, Alessio
- Martin, Joel
- Schackwitz, Wendy
- Lipzen, Anna
- Zampino, Giuseppe
- Mazzanti, Laura
- Digilio, Maria C
- Martinelli, Simone
- Flex, Elisabetta
- Lepri, Francesca
- Bartholdi, Deborah
- Kutsche, Kerstin
- Ferrero, Giovanni B
- Anichini, Cecilia
- Selicorni, Angelo
- Rossi, Cesare
- Tenconi, Romano
- Zenker, Martin
- Merlo, Daniela
- Dallapiccola, Bruno
- Iyengar, Ravi
- Bazzicalupo, Paolo
- Gelb, Bruce D
- Tartaglia, Marco
Producer: 20090928
In:
Nature genetics vol. 41
Availability: No items available.
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