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Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
By:
- Melo, Uirá Souto;
- Jatzlau, Jerome;
- Prada-Medina, Cesar A.;
- Flex, Elisabetta;
- Hartmann, Sunhild;
- Ali, Salaheddine;
- Schöpflin, Robert;
- Bernardini, Laura;
- Ciolfi, Andrea;
- Moeinzadeh, M-Hossein;
- Klever, Marius-Konstantin;
- Altay, Aybuge;
- Vallecillo-García, Pedro;
- Carpentieri, Giovanna;
- Delledonne, Massimo;
- Ort, Melanie-Jasmin;
- Schwestka, Marko;
- Ferrero, Giovanni Battista;
- Tartaglia, Marco;
- Brusco, Alfredo
Publication type:
Article
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma‐like mesenchymal tumors.
Published in:
Journal of Pathology, 2024, v. 263, n. 2, p. 166, doi. 10.1002/path.6272
By:
- Motta, Marialetizia;
- Barresi, Sabina;
- Pizzi, Simone;
- Bifano, Delfina;
- Lopez Marti, Jennifer;
- Garrido‐Pontnou, Marta;
- Flex, Elisabetta;
- Bruselles, Alessandro;
- Giovannoni, Isabella;
- Rotundo, Giovannina;
- Fragale, Alessandra;
- Tirelli, Valentina;
- Vallese, Silvia;
- Ciolfi, Andrea;
- Bisogno, Gianni;
- Alaggio, Rita;
- Tartaglia, Marco
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
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7988, doi. 10.3390/ijms24097988
By:
- Muto, Valentina;
- Benigni, Federica;
- Magliocca, Valentina;
- Borghi, Rossella;
- Flex, Elisabetta;
- Pallottini, Valentina;
- Rosa, Alessandro;
- Compagnucci, Claudia;
- Tartaglia, Marco
Publication type:
Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
By:
- Pierpont, Elizabeth I.;
- Bennett, Anton M.;
- Schoyer, Lisa;
- Stronach, Beth;
- Anschutz, April;
- Borrie, Sarah C.;
- Briggs, Benjamin;
- Burkitt‐Wright, Emma;
- Castel, Pau;
- Cirstea, Ion C.;
- Draaisma, Fieke;
- Ellis, Michelle;
- Fear, Vanessa S.;
- Frone, Megan N.;
- Flex, Elisabetta;
- Gelb, Bruce D.;
- Green, Tamar;
- Gripp, Karen W.;
- Khoshkhoo, Sattar;
- Kieran, Mark W.
Publication type:
Article
Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 422, doi. 10.1002/ajmg.a.62615
By:
- Leoni, Chiara;
- Bisanti, Cristian;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Massese, Miriam;
- Giorgio, Valentina;
- Corbo, Fabio;
- Acampora, Anna;
- Cipolla, Clelia;
- Flex, Elisabetta;
- Dell'Atti, Claudia;
- Rigante, Donato;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 414, doi. 10.1002/ajmg.a.62588
By:
- Leoni, Chiara;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Bisanti, Cristian;
- Massese, Miriam;
- Giorgio, Valentina;
- Corbo, Fabio;
- Tedesco, Marta;
- Acampora, Anna;
- Cipolla, Clelia;
- Dell'Atti, Claudia;
- Flex, Elisabetta;
- Gervasoni, Jacopo;
- Primiano, Aniello;
- Rigante, Donato;
- Tartaglia, Marco;
- Zampino, Giuseppe
Publication type:
Article
Progressive extreme heterotopic calcification.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1706, doi. 10.1002/ajmg.a.35944
By:
- Silengo, Margherita;
- Defilippi, Claudio;
- Belligni, Elga;
- Biamino, Elisa;
- Flex, Elisabetta;
- Brusco, Alfredo;
- Ferrero, Giovanni Battista;
- Tartaglia, Marco;
- Hennekam, Raoul C.
Publication type:
Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Published in:
Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
By:
- Kortüm, Fanny;
- Kutsche, Kerstin;
- Korenke, Georg Christoph;
- Leuzzi, Vincenzo;
- Mowat, David;
- Nair, Lal D V;
- Nguyen, Thi Tuyet Mai;
- Thierry, Patrick;
- White, Susan M;
- Campeau, Philippe M;
- Tartaglia, Marco;
- Caputo, Viviana;
- Pizzuti, Antonio;
- Bauer, Christiane K;
- Stella, Lorenzo;
- Bocchinfuso, Gianfranco;
- Ciolfi, Andrea;
- Flex, Elisabetta;
- Alawi, Malik;
- Paolacci, Stefano
Publication type:
Article
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Published in:
Nature Genetics, 2014, v. 46, n. 6, p. 635, doi. 10.1038/ng.2963
By:
- Dhandapany, Perundurai S;
- Razzaque, Md Abdur;
- Muthusami, Uthiralingam;
- Kunnoth, Sreejith;
- Edwards, Jonathan J;
- Mulero-Navarro, Sonia;
- Riess, Ilan;
- Pardo, Sherly;
- Sheng, Jipo;
- Rani, Deepa Selvi;
- Rani, Bindu;
- Govindaraj, Periyasamy;
- Flex, Elisabetta;
- Yokota, Tomohiro;
- Furutani, Michiko;
- Nishizawa, Tsutomu;
- Nakanishi, Toshio;
- Robbins, Jeffrey;
- Limongelli, Giuseppe;
- Hajjar, Roger J
Publication type:
Article
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Published in:
Nature Genetics, 2009, v. 41, n. 9, p. 1022, doi. 10.1038/ng.425
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
Publication type:
Article
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37585-8
By:
- Melo, Uirá Souto;
- Jatzlau, Jerome;
- Prada-Medina, Cesar A.;
- Flex, Elisabetta;
- Hartmann, Sunhild;
- Ali, Salaheddine;
- Schöpflin, Robert;
- Bernardini, Laura;
- Ciolfi, Andrea;
- Moeinzadeh, M-Hossein;
- Klever, Marius-Konstantin;
- Altay, Aybuge;
- Vallecillo-García, Pedro;
- Carpentieri, Giovanna;
- Delledonne, Massimo;
- Ort, Melanie-Jasmin;
- Schwestka, Marko;
- Ferrero, Giovanni Battista;
- Tartaglia, Marco;
- Brusco, Alfredo
Publication type:
Article
Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Published in:
2023
By:
- Melo, Uirá Souto;
- Jatzlau, Jerome;
- Prada-Medina, Cesar A.;
- Flex, Elisabetta;
- Hartmann, Sunhild;
- Ali, Salaheddine;
- Schöpflin, Robert;
- Bernardini, Laura;
- Ciolfi, Andrea;
- Moeinzadeh, M-Hossein;
- Klever, Marius-Konstantin;
- Altay, Aybuge;
- Vallecillo-García, Pedro;
- Carpentieri, Giovanna;
- Delledonne, Massimo;
- Ort, Melanie-Jasmin;
- Schwestka, Marko;
- Ferrero, Giovanni Battista;
- Tartaglia, Marco;
- Brusco, Alfredo
Publication type:
Correction Notice
Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.
Published in:
Proteins, 2007, v. 66, n. 4, p. 963, doi. 10.1002/prot.21050
By:
- Bocchinfuso, Gianfranco;
- Stella, Lorenzo;
- Martinelli, Simone;
- Flex, Elisabetta;
- Carta, Claudio;
- Pantaleoni, Francesca;
- Pispisa, Basilio;
- Venanzi, Mariano;
- Tartaglia, Marco;
- Palleschi, Antonio
Publication type:
Article
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 9, p. 667, doi. 10.1038/sj.ejhg.5200707
By:
- Mangino, Massimo;
- Flex, Elisabetta;
- Capon, Francesca;
- Sangiuolo, Federica;
- Carraro, Edoardo;
- Gualandi, Francesca;
- Mazzoli, Manuela;
- Martini, Alessandro;
- Novelli, Giuseppe;
- Dallapiccola, Bruno
Publication type:
Article
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 3, p. 473, doi. 10.1093/hmg/ddac213
By:
- Flex, Elisabetta;
- Albadri, Shahad;
- Radio, Francesca Clementina;
- Cecchetti, Serena;
- Lauri, Antonella;
- Priolo, Manuela;
- Kissopoulos, Marta;
- Carpentieri, Giovanna;
- Fasano, Giulia;
- Venditti, Martina;
- Magliocca, Valentina;
- Bellacchio, Emanuele;
- Welch, Carrie L;
- Colombo, Paolo C;
- Kochav, Stephanie M;
- Chang, Richard;
- Barrick, Rebekah;
- Trivisano, Marina;
- Micalizzi, Alessia;
- Borghi, Rossella
Publication type:
Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
Published in:
Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
By:
- Leoni, Chiara;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Verdolotti, Tommaso;
- Biagini, Tommaso;
- Mazza, Tommaso;
- De Luca, Alessandro;
- Perri, Lucrezia;
- Trevisan, Valentina;
- Flex, Elisabetta;
- Tartaglia, Marco;
- Zampino, Giuseppe
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
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.
Published in:
2021
By:
- Leoni, Chiara;
- Romeo, Domenico Marco;
- Pelliccioni, Michele;
- Di Già, Mariangela;
- Onesimo, Roberta;
- Giorgio, Valentina;
- Flex, Elisabetta;
- Tedesco, Marta;
- Tartaglia, Marco;
- Rigante, Donato;
- Valassina, Antonio;
- Zampino, Giuseppe
Publication type:
journal article
Epilepsy with auditory features: A LGI1 gene mutation suggests a loss-of-function mechanism.
Published in:
Annals of Neurology, 2003, v. 53, n. 3, p. 396
By:
- Antonio Pizzuti;
- Elisabetta Flex;
- Carlo Di Bonaventura;
- Tania Dottorini;
- Gabriella Egeo;
- Mario Manfredi
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
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Published in:
Cell Death & Disease, 2019, v. 10, n. 3, p. 1, doi. 10.1038/s41419-019-1453-0
By:
- Grassi, Ludovica;
- Alfonsi, Romina;
- Francescangeli, Federica;
- Signore, Michele;
- De Angelis, Maria Laura;
- Addario, Antonio;
- Costantini, Manuela;
- Flex, Elisabetta;
- Ciolfi, Andrea;
- Pizzi, Simone;
- Bruselles, Alessandro;
- Pallocca, Matteo;
- Simone, Giuseppe;
- Haoui, Mustapha;
- Falchi, Mario;
- Milella, Michele;
- Sentinelli, Steno;
- Di Matteo, Paola;
- Stellacci, Emilia;
- Gallucci, Michele
Publication type:
Article
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Published in:
Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0804-0
By:
- Ciolfi, Andrea;
- Aref-Eshghi, Erfan;
- Pizzi, Simone;
- Pedace, Lucia;
- Miele, Evelina;
- Kerkhof, Jennifer;
- Flex, Elisabetta;
- Martinelli, Simone;
- Radio, Francesca Clementina;
- Ruivenkamp, Claudia A. L.;
- Santen, Gijs W. E.;
- Bijlsma, Emilia;
- Barge-Schaapveld, Daniela;
- Ounap, Katrin;
- Siu, Victoria Mok;
- Kooy, R. Frank;
- Dallapiccola, Bruno;
- Sadikovic, Bekim;
- Tartaglia, Marco
Publication type:
Article
A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities.
Published in:
Diabetes, 2007, v. 56, n. 5, p. 1468, doi. 10.2337/db06-1389
By:
- Prudente, Sabrina;
- Flex, Elisabetta;
- Morini, Eleonora;
- Turchi, Federica;
- Capponi, Daria;
- De Cosmo, Salvatore;
- Tassi, Vittorio;
- Guida, Valentina;
- Avogaro, Angelo;
- Folli, Franco;
- Maiani, Francesca;
- Frittitta, Lucia;
- Dallapiccola, Bruno;
- Trischitta, Vincenzo
Publication type:
Article
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy.
Published in:
2005
By:
- Prudente, Sabrina;
- Hribal, Marta Letizia;
- Flex, Elisabetta;
- Turchi, Federica;
- Morini, Eleonora;
- De Cosmo, Salvatore;
- Bacci, Simonetta;
- Tassi, Vittorio;
- Cardellini, Marina;
- Lauro, Renato;
- Sesti, Giorgio;
- Dallapiccola, Bruno;
- Trischitta, Vincenzo
Publication type:
journal article
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum.
Published in:
Movement Disorders, 2023, v. 38, n. 12, p. 2313, doi. 10.1002/mds.29585
By:
- Galosi, Serena;
- Novelli, Maria;
- Di Rocco, Martina;
- Flex, Elisabetta;
- Messina, Elena;
- Pollini, Luca;
- Parrini, Elena;
- Pisani, Francesco;
- Guerrini, Renzo;
- Leuzzi, Vincenzo;
- Martinelli, Simone
Publication type:
Article
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.
Published in:
2022
By:
- Giuffrida, Maria Grazia;
- Goldoni, Marina;
- Genovesi, Maria Luce;
- Carpentieri, Giovanna;
- Torres, Barbara;
- Deac, Anca Daniela;
- Cecchetti, Serena;
- Martinelli, Anna;
- Vaisfeld, Alessandro;
- Flex, Elisabetta;
- Bernardini, Laura
Publication type:
Case Study
DNMT3A and DNMT3B Targeting as an Effective Radiosensitizing Strategy in Embryonal Rhabdomyosarcoma.
Published in:
Cells (2073-4409), 2021, v. 10, n. 11, p. 2956, doi. 10.3390/cells10112956
By:
- Camero, Simona;
- Vitali, Giulia;
- Pontecorvi, Paola;
- Ceccarelli, Simona;
- Anastasiadou, Eleni;
- Cicchetti, Francesca;
- Flex, Elisabetta;
- Pomella, Silvia;
- Cassandri, Matteo;
- Rota, Rossella;
- Marampon, Francesco;
- Marchese, Cinzia;
- Schiavetti, Amalia;
- Megiorni, Francesca
Publication type:
Article
Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia.
Published in:
British Journal of Haematology, 2012, v. 159, n. 1, p. 115, doi. 10.1111/j.1365-2141.2012.09245.x
By:
- Martinelli, Simone;
- Checquolo, Saula;
- Consoli, Federica;
- Stellacci, Emilia;
- Rossi, Cesare;
- Silvano, Marianna;
- Franciosa, Giulia;
- Flex, Elisabetta;
- Cossu, Carla;
- Luca, Alessandro;
- Foà, Robin;
- Cazzaniga, Giovanni;
- Biondi, Andrea;
- Screpanti, Isabella;
- Tartaglia, Marco
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
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Published in:
Human Mutation, 2017, v. 38, n. 7, p. 798, doi. 10.1002/humu.23224
By:
- Pantaleoni, Francesca;
- Lev, Dorit;
- Cirstea, Ion C.;
- Motta, Marialetizia;
- Lepri, Francesca Romana;
- Bottero, Lisabianca;
- Cecchetti, Serena;
- Linger, Ilan;
- Paolacci, Stefano;
- Flex, Elisabetta;
- Novelli, Antonio;
- Carè, Alessandra;
- Ahmadian, Mohammad R.;
- Stellacci, Emilia;
- Tartaglia, Marco
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
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 703, doi. 10.1002/humu.22026
By:
- Ferrero, Giovanni Battista;
- Picco, Gabriele;
- Baldassarre, Giuseppina;
- Flex, Elisabetta;
- Isella, Claudio;
- Cantarella, Daniela;
- Corà, Davide;
- Chiesa, Nicoletta;
- Crescenzio, Nicoletta;
- Timeus, Fabio;
- Merla, Giuseppe;
- Mazzanti, Laura;
- Zampino, Giuseppe;
- Rossi, Cesare;
- Silengo, Margherita;
- Tartaglia, Marco;
- Medico, Enzo
Publication type:
Article
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 2018, doi. 10.1093/hmg/ddn099
By:
- Martinelli, Simone;
- Torreri, Paola;
- Tinti, Michele;
- Stella, Lorenzo;
- Bocchinfuso, Gianfranco;
- Flex, Elisabetta;
- Grottesi, Alessandro;
- Ceccarini, Marina;
- Palleschi, Antonio;
- Cesareni, Gianni;
- Castagnoli, Luisa;
- Petrucci, Tamara C.;
- Gelb, Bruce D.;
- Tartaglia, Marco
Publication type:
Article
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Published in:
2021
By:
- Flex, Elisabetta;
- Imperatore, Valentina;
- Carpentieri, Giovanna;
- Bruselles, Alessandro;
- Ciolfi, Andrea;
- Pizzi, Simone;
- Tedesco, Maria Giovanna;
- Rogaia, Daniela;
- Mencarelli, Amedea;
- Di Cara, Giuseppe;
- Verrotti, Alberto;
- Troiani, Stefania;
- Merla, Giuseppe;
- Tartaglia, Marco;
- Prontera, Paolo
Publication type:
Case Study
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype (Communicated by Iain McIntosh) Online Citation: Human Mutation, Mutation in Brief #691 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/691.pdf)
Published in:
Human Mutation, 2004, v. 23, n. 3, p. 286, doi. 10.1002/humu.9220
By:
- Antonio Pizzuti;
- Elisabetta Flex;
- Rita Mingarelli;
- Carmelo Salpietro;
- Leopoldo Zelante
Publication type:
Article
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
Published in:
2003
By:
- Antonio Pizzuti;
- Anna Sarkozy;
- Anthea L. Newton;
- Emanuela Conti;
- Elisabetta Flex;
- Maria Cristina Digilio;
- Francesca Amati;
- Debora Gianni;
- Caterina Tandoi;
- Bruno Marino;
- Merlin Crossley
Publication type:
Erratum
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot(Communicated by Arnold Munnich).
Published in:
Human Mutation, 2003, v. 22, n. 5, p. 372, doi. 10.1002/humu.10261
By:
- Antonio Pizzuti;
- Anna Sarkozy;
- Anthea L. Newton;
- Emanuela Conti;
- Elisabetta Flex;
- Maria Cristina Digilio;
- Francesca Amati;
- Debora Gianni;
- Caterina Tandoi;
- Bruno Marino;
- Merlin Crossley
Publication type:
Article
Interaction of DIO2 T92A and PPARγ2 P12A Polymorphisms in the Modulation of Metabolic Syndrome.
Published in:
Obesity (19307381), 2007, v. 15, n. 12, p. 2889, doi. 10.1038/oby.2007.343
By:
- Fiorito, Mirella;
- Torrente, Isabella;
- De Cosmo, Salvatore;
- Guida, Valentina;
- Colosimo, Alessia;
- Prudente, Sabrina;
- Flex, Elisabetta;
- Menghini, Rossella;
- Miccoli, Roberto;
- Penno, Giuseppe;
- Pellegrini, Fabio;
- Tassi, Vittorio;
- Federici, Massimo;
- Trischitta, Vincenzo;
- Dallapiccola, Bruno
Publication type:
Article

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