Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects
Borghini, S., Duca, M. Di, Prato, A. Pini, Lerone, M., Martucciello, G., Jasonni, V., Ravazzolo, R., Ceccherini, I.
Published in Internal medicine journal (01.05.2009)
Published in Internal medicine journal (01.05.2009)
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Cis and trans regulatory elements in NPHS2 promoter: Implications in proteinuria and progression of renal diseases
Di Duca, M., Oleggini, R., Sanna-Cherchi, S., Pasquali, L., Di Donato, A., Parodi, S., Bertelli, R., Caridi, G., Frasca, G., Cerullo, G., Amoroso, A., Schena, F.P., Scolari, F., Ghiggeri, G.M., The European IgA Nephropathy Consortium
Published in Kidney international (01.10.2006)
Published in Kidney international (01.10.2006)
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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome
Matera, I, Bachetti, T, Puppo, F, Di Duca, M, Morandi, F, Casiraghi, G M, Cilio, M R, Hennekam, R, Hofstra, R, Schöber, J G, Ravazzolo, R, Ottonello, G, Ceccherini, I
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
Borghini, S., Tassi, S., Chiesa, S., Caroli, F., Carta, S., Caorsi, R., Fiore, M., Delfino, L., Lasigliè, D., Ferraris, C., Traggiai, E., Di Duca, M., Santamaria, G., D'Osualdo, A., Tosca, M., Martini, A., Ceccherini, I., Rubartelli, A., Gattorno, M.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2011)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.03.2011)
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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis
CARIDI, Gianluca, BERTELLI, Roberta, SERI, Marco, GINEVRI, Fabrizio, PERFUMO, Francesco, GHIGGERI, Gian Marco, CARREA, Alba, DI DUCA, Marco, CATARSI, Paolo, ARTERO, Mary, CARRARO, Michele, ZENNARO, Cristina, CANDIANO, Giovanni, MUSANTE, Luca
Published in Journal of the American Society of Nephrology (01.12.2001)
Published in Journal of the American Society of Nephrology (01.12.2001)
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Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen
Giampuzzi, M, Botti, G, Di Duca, M, Arata, L, Ghiggeri, G, Gusmano, R, Ravazzolo, R, Di Donato, A
Published in The Journal of biological chemistry (17.11.2000)
Published in The Journal of biological chemistry (17.11.2000)
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Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation
Parodi, S, Vollono, C, Baglietto, MP, Balestri, M, Di Duca, M, Landri, PA, Ceccherini, I, Ottonello, G, Cilio, MR
Published in Clinical genetics (01.09.2010)
Published in Clinical genetics (01.09.2010)
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MLPA assay in F8 gene mutation screening
ACQUILA, M., PASINO, M., DI DUCA, M., BOTTINI, F., MOLINARI, A. C., BICOCCHI, M. P.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.05.2008)
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Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome
Bachetti, Tiziana, Matera, Ivana, Borghini, Silvia, Duca, Marco Di, Ravazzolo, Roberto, Ceccherini, Isabella
Published in Human molecular genetics (01.07.2005)
Published in Human molecular genetics (01.07.2005)
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Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene
ACQUILA, M., BOTTINI, F., DI DUCA, M., VIJZELAAR, R., MOLINARI, A. C., BICOCCHI, M. P.
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2009)
Published in Haemophilia : the official journal of the World Federation of Hemophilia (01.11.2009)
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Broadening the spectrum of diseases related to podocin mutations
CARIDI, Gianluca, BERTELLI, Roberta, CARREA, Alba, MASSELLA, Laura, RIZZONI, Gianfranco, PERFUMO, Francesco, GHIGGERI, Gian Marco, DI DUCA, Marco, DAGNINO, Monica, EMMA, Francesco, MUDA, Andrea Onetti, SCOLARI, Francesco, MIGLIETTI, Nunzia, MAZZUCCO, Gianna, MURER, Luisa
Published in Journal of the American Society of Nephrology (01.05.2003)
Published in Journal of the American Society of Nephrology (01.05.2003)
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Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin
Bertelli, Roberta, Ginevri, Fabrizio, Caridi, Gianluca, Dagnino, Monica, Sandrini, Silvio, Di Duca, Marco, Emma, Francesco, Sanna-Cherchi, Simone, Scolari, Francesco, Neri, Tauro Maria, Murer, Luisa, Massella, Laura, Basile, Giancarlo, Rizzoni, Gianfranco, Perfumo, Francesco, Ghiggeri, Gian Marco
Published in American journal of kidney diseases (01.06.2003)
Published in American journal of kidney diseases (01.06.2003)
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Association of alleles at polymorphic sites in the osteopontin encoding gene in young type 1 diabetic patients
Marciano, Renato, D'Annunzio, Giuseppe, Minuto, Nicola, Pasquali, Lorenzo, Santamaria, Andrea, Di Duca, Marco, Ravazzolo, Roberto, Lorini, Renata
Published in Clinical immunology (Orlando, Fla.) (01.04.2009)
Published in Clinical immunology (Orlando, Fla.) (01.04.2009)
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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T., Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Maria F., Tenconi, Romano, Sensi, Alberto, Salmaggi, Andrea, Bengala, Mario, Mari, Francesca, Colussi, Gianluca, Szczaluba, Krzysztof, Antonarakis, Stylianos E., Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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What's the point of children's sensory peculiarities in PDD assessment?
Philippe, P., Maes, N., Philippe, P., Boute, M., Di Duca, M., Thomas, A., Tromme, I., Bours, A., Ramaekers, V., Delvenne, V.
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.07.2012)
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.07.2012)
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An Alu-mediated rearrangement as cause of exon skipping in Hunter disease
RICCI, Verena, REGIS, Stefano, DI DUCA, Marco, FILOCAMO, Mirella
Published in Human genetics (01.04.2003)
Published in Human genetics (01.04.2003)
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Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin
Caridi, Gianluca, Berdeli, Afig, Dagnino, Monica, Di Duca, Marco, Mir, Sevgi, Cura, Alphan, Ravazzolo, Roberto, Ghiggeri, Gian Marco
Published in American journal of kidney diseases (01.04.2004)
Published in American journal of kidney diseases (01.04.2004)
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An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient
REGIS, Stefano, CORSOLINI, Fabio, RICCI, Verena, DI DUCA, Marco, FILOCAMO, Mirella
Published in European journal of human genetics : EJHG (01.02.2004)
Published in European journal of human genetics : EJHG (01.02.2004)
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