2. Post-Natal Molecular Diagnosis of Inherited Diseases

Por Ferrari, Maurizio, Cremonesi, Laura, Stenirri, Stefania
Publicado no EJIFCC (2008)

10. Circulating Nucleic Acids as Diagnostic Tool

Por Ferrari, Maurizio, Cremonesi, Laura, Galbiati, Silvia
Publicado no EJIFCC (2008)

The -582A>G variant of the HAMP promoter is not associated with high serum ferritin levels in normal subjects

Por Bruno, Francesca, Bonalumi, Sara, Camaschella, Clara, Ferrari, Maurizio, Cremonesi, Laura
Publicado em 2010

Position paper of the EPMA and EFLM: a global vision of the consolidated promotion of an integrative medical approach to advance health care

Por Golubnitschaja, Olga, Watson, Ian D, Topic, Elizabeta, Sandberg, Sverre, Ferrari, Maurizio, Costigliola, Vincenzo
Publicado em 2013

Novel use of Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases

Por Galbiati, Silvia, Brisci, Angela, Lalatta, Faustina, Seia, Manuela, Makrigiorgos, G. Mike, Ferrari, Maurizio, Cremonesi, Laura
Publicado em 2010

A New Microarray Substrate for Ultra-Sensitive Genotyping of KRAS and BRAF Gene Variants in Colorectal Cancer

Por Galbiati, Silvia, Damin, Francesco, Pinzani, Pamela, Mancini, Irene, Vinci, Serena, Chiari, Marcella, Orlando, Claudio, Cremonesi, Laura, Ferrari, Maurizio
Publicado em 2013

Detection of Rifampin Resistance in Mycobacterium tuberculosis by Double Gradient-Denaturing Gradient Gel Electrophoresis

Por Scarpellini, Paolo, Braglia, Sergio, Carrera, Paola, Cedri, Maura, Cichero, Paola, Colombo, Alessia, Crucianelli, Rosella, Gori, Andrea, Ferrari, Maurizio, Lazzarin, Adriano
Publicado em 1999

The E1015K Variant in the Synprint Region of the Ca(V)2.1 Channel Alters Channel Function and Is Associated with Different Migraine Phenotypes

Por Condliffe, Steven B., Fratangeli, Alessandra, Munasinghe, Nehan R., Saba, Elena, Passafaro, Maria, Montrasio, Cristina, Ferrari, Maurizio, Rosa, Patrizia, Carrera, Paola
Publicado em 2013

TEMPERATURE-TOLERANT COLD-PCR ELIMINATES TEMPERATURE STRINGENCY AND ENABLES ROBUST MUTATION ENRICHMENT

Por Castellanos-Rizaldos, E., Liu, Pingfang, Milbury, Coren A., Guha, Minakshi, Brisci, Angela, Cremonesi, Laura, Ferrari, Maurizio, Mamon, Harvey, Makrigiorgos, G. Mike
Publicado em 2012

Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis

Por Somaschini, Marco, Resta, Chiara Di, Volonteri, Chiara, Castiglioni, Emanuela, Bonfiglio, Silvia, Lazarevic, Dejan, Cittaro, Davide, Stupka, Elia, Ferrari, Maurizio, Carrera, Paola
Publicado no Ital J Pediatr (2015)

Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders

Por Castiglioni, Emanuela, Finazzi, Dario, Goldwurm, Stefano, Pezzoli, Gianni, Forni, Gianluca, Girelli, Domenico, Maccarinelli, Federica, Poli, Maura, Ferrari, Maurizio, Cremonesi, Laura, Arosio, Paolo
Publicado em 2010

An evaluation of the Diamat HPLC analyser for simultaneous determination of haemoglobins A(2) and F

Por Mosca, Andrea, Carpinelli, Assunta, Majavacca, Rita, Cantu'-Rajnoldi, Angelo, Garatti, Massimo, Paleari, Renata, Ferrari, Maurizio, Agape, Vittorio, Maccioni, Liliana, Pisano, Sandra, Galanello, Renzo
Publicado em 1989

Deep sequencing reveals double mutations in cis of MPL exon 10 in myeloproliferative neoplasms

Por Pietra, Daniela, Brisci, Angela, Rumi, Elisa, Boggi, Sabrina, Elena, Chiara, Pietrelli, Alessandro, Bordoni, Roberta, Ferrari, Maurizio, Passamonti, Francesco, De Bellis, Gianluca, Cremonesi, Laura, Cazzola, Mario
Publicado em 2011

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

Por Sommariva, Elena, Pappone, Carlo, Martinelli Boneschi, Filippo, Di Resta, Chiara, Rosaria Carbone, Maria, Salvi, Erika, Vergara, Pasquale, Sala, Simone, Cusi, Daniele, Ferrari, Maurizio, Benedetti, Sara
Publicado em 2013

Clinical, Pathological, and Molecular Correlates in Ferroportin Disease. A Study Of Two Novel Mutations

Por Girelli, Domenico, De Domenico, Ivana, Bozzini, Claudia, Campostrini, Natascia, Busti, Fabiana, Castagna, Annalisa, Soriani, Nadia, Cremonesi, Laura, Ferrari, Maurizio, Colombari, Romano, Ward, Diane McVey, Kaplan, Jerry, Corrocher, Roberto
Publicado em 2008

Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer

Por Bordoni, Roberta, Bonnal, Raoul, Rizzi, Ermanno, Carrera, Paola, Benedetti, Sara, Cremonesi, Laura, Stenirri, Stefania, Colombo, Alessio, Montrasio, Cristina, Bonalumi, Sara, Albertini, Alberto, Bernardi, Luigi Rossi, Ferrari, Maurizio, De Bellis, Gianluca
Publicado em 2008

Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency

Por Conca Dioguardi, Carola, Uslu, Bahar, Haynes, Monique, Kurus, Meltem, Gul, Mehmet, Miao, De-Qiang, De Santis, Lucia, Ferrari, Maurizio, Bellone, Stefania, Santin, Alessandro, Giulivi, Cecilia, Hoffman, Gloria, Usdin, Karen, Johnson, Joshua
Publicado no Mol Hum Reprod (2016)

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: A collaborative study

Por Estivill, Xavier, Farrall, Martin, Williamson, Robert, Ferrari, Maurizio, Seia, Manuela, Giunta, Anna Maria, Novelli, Giuseppe, Potenza, Lucia, Dallapicolla, Bruno, Borgo, Graziella, Gasparini, Paolo, Pignatti, Pier F., De Benedetti, Laura, Vitale, Emilia, Devoto, Marcella, Romeo, Giovanni
Publicado em 1988

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

Por Orellana, Daniel I, Santambrogio, Paolo, Rubio, Alicia, Yekhlef, Latefa, Cancellieri, Cinzia, Dusi, Sabrina, Giannelli, Serena G, Venco, Paola, Mazzara, Pietro G, Cozzi, Anna, Ferrari, Maurizio, Garavaglia, Barbara, Taverna, Stefano, Tiranti, Valeria, Broccoli, Vania, Levi, Sonia
Publicado no EMBO Mol Med (2016)

Diamond photonics platform enabled by femtosecond laser writing

Por Sotillo, Belén, Bharadwaj, Vibhav, Hadden, J. P., Sakakura, Masaaki, Chiappini, Andrea, Fernandez, Toney Teddy, Longhi, Stefano, Jedrkiewicz, Ottavia, Shimotsuma, Yasuhiko, Criante, Luigino, Osellame, Roberto, Galzerano, Gianluca, Ferrari, Maurizio, Miura, Kiyotaka, Ramponi, Roberta, Barclay, Paul E., Eaton, Shane Michael
Publicado no Sci Rep (2016)