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Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene.
Published in:
Journal of Genetics, 2019, v. 98, n. 1, p. N.PAG, doi. 10.1007/s12041-019-1055-8
By:
- Uliana, Vera;
- Bonatti, Francesco;
- Zanatta, Valentina;
- Mozzoni, Paola;
- Martorana, Davide;
- Percesepe, Antonio
Publication type:
Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
By:
- Bonatti, Francesco;
- Adorni, Alessia;
- Matichecchia, Annalisa;
- Mozzoni, Paola;
- Uliana, Vera;
- Pisani, Francesco;
- Garavelli, Livia;
- Graziano, Claudio;
- Gnoli, Maria;
- Carli, Diana;
- Bigoni, Stefania;
- Boschi, Elena;
- Martorana, Davide;
- Percesepe, Antonio
Publication type:
Article
Neurofibromatosis type I and multiple myeloma coexistence: A possible link?
Published in:
Hematology Reports, 2018, v. 10, n. 1, p. 23, doi. 10.4081/hr.2018.7457
By:
- Accardi, Fabrizio;
- Marchica, Valentina;
- Mancini, Cristina;
- Maredi, Elena;
- Racano, Costantina;
- Notarfranchi, Laura;
- Martorana, Davide;
- Storti, Paola;
- Martella, Eugenia;
- Palma, Benedetta Dalla;
- Craviotto, Luisa;
- De Filippo, Massimo;
- Percesepe, Antonio;
- Aversa, Franco;
- Giuliani, Nicola
Publication type:
Article
Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV.
Published in:
Italian Journal of Medicine, 2015, v. 9, n. 1, p. 77, doi. 10.4081/itjm.2015.494
By:
- Rocci, Anna;
- Paganelli, Enrico;
- Rossetti, Angelo;
- Marcato, Carla;
- Martorana, Davide;
- Tassoni, Maria Ilaria;
- Quintavalla, Roberto
Publication type:
Article
Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome.
Published in:
Kidney International, 2013, v. 84, n. 5, p. 1025, doi. 10.1038/ki.2013.211
By:
- Ravani, Pietro;
- Ponticelli, Alessandro;
- Siciliano, Chiara;
- Fornoni, Alessia;
- Magnasco, Alberto;
- Sica, Felice;
- Bodria, Monica;
- Caridi, Gianluca;
- Wei, Changli;
- Belingheri, Mirco;
- Ghio, Luciana;
- Merscher-Gomez, Sandra;
- Edefonti, Alberto;
- Pasini, Andrea;
- Montini, Giovanni;
- Murtas, Corrado;
- Wang, Xiangyu;
- Muruve, Daniel;
- Vaglio, Augusto;
- Martorana, Davide
Publication type:
Article
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Published in:
Genes, Chromosomes & Cancer, 2022, v. 61, n. 1, p. 10, doi. 10.1002/gcc.22997
By:
- Riva, Matteo;
- Martorana, Davide;
- Uliana, Vera;
- Caleffi, Edoardo;
- Boschi, Elena;
- Garavelli, Livia;
- Ponti, Giovanni;
- Sangiorgi, Luca;
- Graziano, Claudio;
- Bigoni, Stefania;
- Rocchetti, Luca Maria;
- Madeo, Simona;
- Soli, Fiorenza;
- Grosso, Enrico;
- Carli, Diana;
- Goldoni, Matteo;
- Pisani, Francesco;
- Percesepe, Antonio
Publication type:
Article
TLR-4 and VEGF Polymorphisms in Chronic Periaortitis
Published in:
PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062330
By:
- Atzeni, Fabiola;
- Boiardi, Luigi;
- Vaglio, Augusto;
- Nicoli, Davide;
- Farnetti, Enrico;
- Palmisano, Alessandra;
- Pipitone, Nicolò;
- Martorana, Davide;
- Moroni, Gabriella;
- Longhi, Selena;
- Bonatti, Francesco;
- Buzio, Carlo;
- Salvarani, Carlo
Publication type:
Article
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-12515-9
By:
- Lyons, Paul A;
- Peters, James E;
- Alberici, Federico;
- Liley, James;
- Coulson, Richard M. R.;
- Astle, William;
- Baldini, Chiara;
- Bonatti, Francesco;
- Cid, Maria C;
- Elding, Heather;
- Emmi, Giacomo;
- Epplen, Jörg;
- Guillevin, Loïc;
- Jayne, David R. W.;
- Jiang, Tao;
- Gunnarsson, Iva;
- Lamprecht, Peter;
- Leslie, Stephen;
- Little, Mark A.;
- Martorana, Davide
Publication type:
Article
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Published in:
Cancers, 2020, v. 12, n. 11, p. 3268, doi. 10.3390/cancers12113268
By:
- Innella, Giovanni;
- Rossi, Cesare;
- Romagnoli, Maria;
- Repaci, Andrea;
- Bianchi, Davide;
- Cantarini, Maria Elena;
- Martorana, Davide;
- Godino, Lea;
- Pession, Andrea;
- Percesepe, Antonio;
- Pagotto, Uberto;
- Turchetti, Daniela
Publication type:
Article
Combined genetic variants of human cytomegalovirus envelope glycoproteins as congenital infection markers.
Published in:
Virology Journal, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12985-015-0428-8
By:
- Arcangeletti, Maria-Cristina;
- Simone, Rosita Vasile;
- Rodighiero, Isabella;
- De Conto, Flora;
- Medici, Maria-Cristina;
- Martorana, Davide;
- Chezzi, Carlo;
- Calderaro, Adriana
Publication type:
Article
Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives.
Published in:
Current Issues in Molecular Biology, 2024, v. 46, n. 7, p. 7516, doi. 10.3390/cimb46070446
By:
- Treccani, Mirko;
- Veschetti, Laura;
- Patuzzo, Cristina;
- Malerba, Giovanni;
- Vaglio, Augusto;
- Martorana, Davide
Publication type:
Article
Contribution of HLA-DBR1*03 and DRB1*04 in Genetic Susceptibily of Autoimmune Pancreatitis: Preliminary Data.
Published in:
JOP Journal of the Pancreas, 2012, v. 13, n. 5, Supp, p. 597
By:
- Cavestro, Giulia M.;
- Martorana, Davide;
- Goni, Elisabetta;
- Frulloni, Luca;
- Amodio, Antonio;
- Vantini, Italo;
- Testoni, Pier Alberto
Publication type:
Article
PTPN22 R620W polymorphism in the ANCA-associated vasculitides.
Published in:
2012
By:
- Martorana, Davide;
- Maritati, Federica;
- Malerba, Giovanni;
- Bonatti, Francesco;
- Alberici, Federico;
- Oliva, Elena;
- Sebastio, Paola;
- Manenti, Lucio;
- Brugnano, Rachele;
- Catanoso, Maria G.;
- Fraticelli, Paolo;
- Guida, Giuseppe;
- Gregorini, Gina;
- Possenti, Stefano;
- Moroni, Gabriella;
- Leoni, Antonio;
- Pavone, Laura;
- Pesci, Alberto;
- Sinico, Renato A.;
- Di Toma, Lucafrancesco
Publication type:
Journal Article
PTPN22 R620W polymorphism in the ANCA-associated vasculitides.
Published in:
Rheumatology, 2012, v. 51, n. 5, p. 805, doi. 10.1093/rheumatology/ker446
By:
- Martorana, Davide;
- Maritati, Federica;
- Malerba, Giovanni;
- Bonatti, Francesco;
- Alberici, Federico;
- Oliva, Elena;
- Sebastio, Paola;
- Manenti, Lucio;
- Brugnano, Rachele;
- Catanoso, Maria G.;
- Fraticelli, Paolo;
- Guida, Giuseppe;
- Gregorini, Gina;
- Possenti, Stefano;
- Moroni, Gabriella;
- Leoni, Antonio;
- Pavone, Laura;
- Pesci, Alberto;
- Sinico, Renato A.;
- Di Toma, Lucafrancesco
Publication type:
Article
Eotaxin-3 in Churg–Strauss syndrome: a clinical and immunogenetic study.
Published in:
2011
By:
- Zwerina, Jochen;
- Bach, Christian;
- Martorana, Davide;
- Jatzwauk, Maria;
- Hegasy, Guido;
- Moosig, Frank;
- Bremer, Jan;
- Wieczorek, Stefan;
- Moschen, Alexander;
- Tilg, Herbert;
- Neumann, Thomas;
- Spriewald, Bernd M.;
- Schett, Georg;
- Vaglio, Augusto
Publication type:
Journal Article
Eotaxin-3 in Churg–Strauss syndrome: a clinical and immunogenetic study.
Published in:
Rheumatology, 2011, v. 50, n. 10, p. 1823, doi. 10.1093/rheumatology/keq445
By:
- Zwerina, Jochen;
- Bach, Christian;
- Martorana, Davide;
- Jatzwauk, Maria;
- Hegasy, Guido;
- Moosig, Frank;
- Bremer, Jan;
- Wieczorek, Stefan;
- Moschen, Alexander;
- Tilg, Herbert;
- Neumann, Thomas;
- Spriewald, Bernd M.;
- Schett, Georg;
- Vaglio, Augusto
Publication type:
Article
CC chemokine receptor 5 polymorphism in chronic periaortitis.
Published in:
Rheumatology, 2011, v. 50, n. 6, p. 1025, doi. 10.1093/rheumatology/keq416
By:
- Boiardi, Luigi;
- Vaglio, Augusto;
- Nicoli, Davide;
- Farnetti, Enrico;
- Palmisano, Alessandra;
- Pipitone, Nicolò;
- Maritati, Federica;
- Casali, Bruno;
- Martorana, Davide;
- Moroni, Gabriella;
- Gallelli, Beniamina;
- Buzio, Carlo;
- Salvarani, Carlo
Publication type:
Article
Monogenic Autoinflammatory Diseases with Mendelian inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Published in:
Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00344
By:
- Martorana, Davide;
- Bonatti, Francesco;
- Mozzoni, Paola;
- Vaglio, Augusto;
- Percesepe, Antonio
Publication type:
Article
Alterations of Type IV Collagen α Chains in Patients with Chronic Acquired Glomerulopathies: mRNA Levels, Protein Expression and Urinary Loss.
Published in:
American Journal of Nephrology, 2007, v. 27, n. 2, p. 129, doi. 10.1159/000099838
By:
- Sanna-Cherchi, Simone;
- Carnevali, Maria Luisa;
- Martorana, Davide;
- Cravedi, Paolo;
- Maggiore, Umberto;
- Alinovi, Rossella;
- Bovino, Achiropita;
- Mattei, Silvia;
- Orlandini, Guido;
- Gatti, Rita;
- Savi, Mario;
- Sado, Yoshikazu;
- Neri, Tauro M.;
- Allegri, Landino
Publication type:
Article
Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis.
Published in:
Nephrology Dialysis Transplantation, 2015, v. 30, p. i37, doi. 10.1093/ndt/gfu386
By:
- Alberici, Federico;
- Martorana, Davide;
- Vaglio, Augusto
Publication type:
Article
Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis.
Published in:
Nephrology Dialysis Transplantation, 2012, v. 27, n. 10, p. 3875, doi. 10.1093/ndt/gfs408
By:
- Mangieri, Domenica;
- Corradi, Domenico;
- Martorana, Davide;
- Malerba, Giovanni;
- Palmisano, Alessandra;
- Libri, Irene;
- Bartoli, Veronica;
- Carnevali, Maria L.;
- Goldoni, Matteo;
- Govoni, Paolo;
- Alinovi, Rossella;
- Buzio, Carlo;
- Vaglio, Augusto
Publication type:
Article
Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.
Published in:
2016
By:
- PONTI, GIOVANNI;
- PELLACANI, GIOVANNI;
- MARTORANA, DAVIDE;
- MANDEL, VICTOR DESMOND;
- LOSCHI, PIETRO;
- POLLIO, ANNAMARIA;
- PECCHI, ANNARITA;
- DEALIS, CRISTINA;
- SEIDENARI, STEFANIA;
- TOMASI, ALDO
Publication type:
Case Study
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
Published in:
2024
By:
- Uliana, Vera;
- Ambrosini, Enrico;
- Taiani, Antonietta;
- Cesarini, Sofia;
- Cannizzaro, Ilenia Rita;
- Negrotti, Anna;
- Serra, Walter;
- Quintavalle, Gabriele;
- Micale, Lucia;
- Fusco, Carmela;
- Castori, Marco;
- Martorana, Davide;
- Bortesi, Beatrice;
- Belli, Laura;
- Percesepe, Antonio;
- Pisani, Francesco;
- Barili, Valeria
Publication type:
Case Study
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
Published in:
Genes, 2024, v. 15, n. 2, p. 219, doi. 10.3390/genes15020219
By:
- Barili, Valeria;
- Ambrosini, Enrico;
- Bortesi, Beatrice;
- Minari, Roberta;
- De Sensi, Erika;
- Cannizzaro, Ilenia Rita;
- Taiani, Antonietta;
- Michiara, Maria;
- Sikokis, Angelica;
- Boggiani, Daniela;
- Tommasi, Chiara;
- Serra, Olga;
- Bonatti, Francesco;
- Adorni, Alessia;
- Luberto, Anita;
- Caggiati, Patrizia;
- Martorana, Davide;
- Uliana, Vera;
- Percesepe, Antonio;
- Musolino, Antonino
Publication type:
Article
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Published in:
Genes, 2023, v. 14, n. 6, p. 1241, doi. 10.3390/genes14061241
By:
- Barili, Valeria;
- Ambrosini, Enrico;
- Uliana, Vera;
- Bellini, Melissa;
- Vitetta, Giulia;
- Martorana, Davide;
- Cannizzaro, Ilenia Rita;
- Taiani, Antonietta;
- De Sensi, Erika;
- Caggiati, Patrizia;
- Hilton, Sarah;
- Banka, Siddharth;
- Percesepe, Antonio
Publication type:
Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Published in:
Genes, 2022, v. 13, n. 1, p. 29, doi. 10.3390/genes13010029
By:
- Pollazzon, Marzia;
- Caraffi, Stefano Giuseppe;
- Faccioli, Silvia;
- Rosato, Simonetta;
- Fodstad, Heidi;
- Campos-Xavier, Belinda;
- Soncini, Emanuele;
- Comitini, Giuseppina;
- Frattini, Daniele;
- Grimaldi, Teresa;
- Marinelli, Maria;
- Martorana, Davide;
- Percesepe, Antonio;
- Sassi, Silvia;
- Fusco, Carlo;
- Gargano, Giancarlo;
- Superti-Furga, Andrea;
- Garavelli, Livia
Publication type:
Article
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10822, doi. 10.3390/ijms251910822
By:
- Cannizzaro, Ilenia Rita;
- Treccani, Mirko;
- Taiani, Antonietta;
- Ambrosini, Enrico;
- Busciglio, Sabrina;
- Cesarini, Sofia;
- Luberto, Anita;
- De Sensi, Erika;
- Moschella, Barbara;
- Gismondi, Pierpacifico;
- Azzoni, Cinzia;
- Bottarelli, Lorena;
- Giordano, Giovanna;
- Corradi, Domenico;
- Silini, Enrico Maria;
- Zanatta, Valentina;
- Cennamo, Federica;
- Bertolini, Patrizia;
- Caggiati, Patrizia;
- Martorana, Davide
Publication type:
Article
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.
Published in:
Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 24, doi. 10.1159/000442068
By:
- Riccardi, Federica;
- Rivolta, Gianna F.;
- Uliana, Vera;
- Grati, Francesca R.;
- La Starza, Roberta;
- Marcato, Livia;
- Di Perna, Caterina;
- Quintavalle, Gabriele;
- Garavelli, Livia;
- Rosato, Simonetta;
- Sammarelli, Gabriella;
- Neri, Tauro M.;
- Tagliaferri, annarita;
- Martorana, Davide
Publication type:
Article
TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by Trübenbach et al.
Published in:
2010
By:
- Martorana, Davide;
- Neri, Tauro Maria
Publication type:
Letter
Genetic susceptibility to ANCA-associated vasculitis: state of the art.
Published in:
Frontiers in Immunology, 2014, v. 5, p. 1, doi. 10.3389/fimmu.2014.00577
By:
- Bonatti, Francesco;
- Reina, Michele;
- Neri, Tauro Maria;
- Martorana, Davide
Publication type:
Article

Found: 30

Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene.

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.

Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV.

Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor-dependent idiopathic nephrotic syndrome.

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.

TLR-4 and VEGF Polymorphisms in Chronic Periaortitis

Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status.

Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.

Combined genetic variants of human cytomegalovirus envelope glycoproteins as congenital infection markers.

Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives.

Contribution of HLA-DBR103 and DRB104 in Genetic Susceptibily of Autoimmune Pancreatitis: Preliminary Data.

PTPN22 R620W polymorphism in the ANCA-associated vasculitides.

PTPN22 R620W polymorphism in the ANCA-associated vasculitides.

Eotaxin-3 in Churg–Strauss syndrome: a clinical and immunogenetic study.

Eotaxin-3 in Churg–Strauss syndrome: a clinical and immunogenetic study.

CC chemokine receptor 5 polymorphism in chronic periaortitis.

Monogenic Autoinflammatory Diseases with Mendelian inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Alterations of Type IV Collagen α Chains in Patients with Chronic Acquired Glomerulopathies: mRNA Levels, Protein Expression and Urinary Loss.

Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis.

Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis.

Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report.

Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.

Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.

Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.

TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by Trübenbach et al.

Genetic susceptibility to ANCA-associated vasculitis: state of the art.