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C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96613-z
By:
- Lanza, Enrico;
- Di Rocco, Martina;
- Schwartz, Silvia;
- Caprini, Davide;
- Milanetti, Edoardo;
- Ferrarese, Giuseppe;
- Lonardo, Maria Teresa;
- Pannone, Luca;
- Ruocco, Giancarlo;
- Martinelli, Simone;
- Folli, Viola
Publication type:
Article
C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-96613-z
By:
- Lanza, Enrico;
- Rocco, Martina Di;
- Schwartz, Silvia;
- Caprini, Davide;
- Milanetti, Edoardo;
- Ferrarese, Giuseppe;
- Lonardo, Maria Teresa;
- Pannone, Luca;
- Ruocco, Giancarlo;
- Martinelli, Simone;
- Folli, Viola
Publication type:
Article
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 668, doi. 10.1210/clinem/dgab790
By:
- Thamtarana, Prapaporn Jungtrakoon;
- Marucci, Antonella;
- Pannone, Luca;
- Bonnefond, Amélie;
- Pezzilli, Serena;
- Biagini, Tommaso;
- Buranasupkajorn, Patinut;
- Hastings, Timothy;
- Mendonca, Christine;
- Marselli, Lorella;
- Di Paola, Rosa;
- Abubakar, Zuroida;
- Mercuri, Luana;
- Alberico, Federica;
- Flex, Elisabetta;
- Ceròn, Julian;
- Porta-de-la-Riva, Montserrat;
- Ludovico, Ornella;
- Carella, Massimo;
- Martinelli, Simone
Publication type:
Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
By:
- Stellacci, Emilia;
- Carter, Jennefer N.;
- Pannone, Luca;
- Stevenson, David;
- Moslehi, Dorsa;
- Venanzi, Serenella;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2351, doi. 10.1002/ajmg.a.36620
By:
- Edwards, Jonathan J.;
- Martinelli, Simone;
- Pannone, Luca;
- Lo, Ivan Fai‐Man;
- Shi, Lisong;
- Edelmann, Lisa;
- Tartaglia, Marco;
- Luk, Ho‐Ming;
- Gelb, Bruce D.
Publication type:
Article
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 12, doi. 10.1111/cge.14140
By:
- Priolo, Manuela;
- Palermo, Valentina;
- Aiello, Francesca;
- Ciolfi, Andrea;
- Pannone, Luca;
- Muto, Valentina;
- Motta, Marialetizia;
- Mancini, Cecilia;
- Radio, Francesca Clementina;
- Niceta, Marcello;
- Leoni, Chiara;
- Pintomalli, Letizia;
- Carrozzo, Rosalba;
- Rajola, Giuseppe;
- Mammì, Corrado;
- Zampino, Giuseppe;
- Martinelli, Simone;
- Dallapiccola, Bruno;
- Pichierri, Pietro;
- Tartaglia, Marco
Publication type:
Article
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 563, doi. 10.1111/cge.14040
By:
- D'Amico, Alessandra;
- Rosano, Carmen;
- Pannone, Luca;
- Pinna, Valentina;
- Assunto, Antonia;
- Motta, Marialetizia;
- Ugga, Lorenzo;
- Daniele, Paola;
- Mandile, Roberta;
- Mariniello, Lucio;
- Siano, Maria Anna;
- Santoro, Claudia;
- Piluso, Giulio;
- Martinelli, Simone;
- Strisciuglio, Pietro;
- De Luca, Alessandro;
- Tartaglia, Marco;
- Melis, Daniela
Publication type:
Article
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 457, doi. 10.1111/cge.13904
By:
- Lorca, Rebeca;
- Pannone, Luca;
- Cuesta‐Llavona, Elías;
- Bocchinfuso, Gianfranco;
- Rodríguez‐Reguero, Julian;
- Carpentieri, Giovanna;
- Hernando, Inés;
- Flex, Elisabetta;
- Tartaglia, Marco;
- Coto, Eliecer;
- Gómez, Juan;
- Martinelli, Simone
Publication type:
Article
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 16, p. 4315, doi. 10.1093/hmg/ddu148
By:
- Flex, Elisabetta;
- Jaiswal, Mamta;
- Pantaleoni, Francesca;
- Martinelli, Simone;
- Strullu, Marion;
- Fansa, Eyad K.;
- Caye, Aurélie;
- De Luca, Alessandro;
- Lepri, Francesca;
- Dvorsky, Radovan;
- Pannone, Luca;
- Paolacci, Stefano;
- Zhang, Si-Cai;
- Fodale, Valentina;
- Bocchinfuso, Gianfranco;
- Rossi, Cesare;
- Burkitt-Wright, Emma M.M.;
- Farrotti, Andrea;
- Stellacci, Emilia;
- Cecchetti, Serena
Publication type:
Article
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.
Published in:
Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170061
By:
- Pannone, Luca;
- Muto, Valentina;
- Nardecchia, Francesca;
- Di Rocco, Martina;
- Marchei, Emilia;
- Tosato, Federica;
- Petrini, Stefania;
- Onorato, Giada;
- Lanza, Enrico;
- Bertuccini, Lucia;
- Manti, Filippo;
- Folli, Viola;
- Galosi, Serena;
- Di Schiavi, Elia;
- Leuzzi, Vincenzo;
- Tartaglia, Marco;
- Martinelli, Simone
Publication type:
Article
Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Published in:
Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
By:
- Martinelli, Simone;
- Pannone, Luca;
- Lissewski, Christina;
- Brinkmann, Julia;
- Flex, Elisabetta;
- Schanze, Denny;
- Calligari, Paolo;
- Anselmi, Massimiliano;
- Pantaleoni, Francesca;
- Canale, Viviana Claudia;
- Radio, Francesca Clementina;
- Ioannides, Adonis;
- Rahner, Nils;
- Schanze, Ina;
- Josifova, Dragana;
- Bocchinfuso, Gianfranco;
- Ryten, Mina;
- Stella, Lorenzo;
- Tartaglia, Marco;
- Zenker, Martin
Publication type:
Article
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 451, doi. 10.1002/humu.23175
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
Publication type:
Article
Cover Image, Volume 38, Issue 4.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. i, doi. 10.1002/humu.23215
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
Publication type:
Article
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Published in:
Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809
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.;
- Luca, Alessandro;
- Dallapiccola, Bruno;
- Zenker, Martin
Publication type:
Article

Found: 14

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples.

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia.

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans.

Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

Cover Image, Volume 38, Issue 4.

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.