M. Duca

发表

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes

R. Ravazzolo, D. Fornasari, V. Jasonni, 2007, European Journal of Human Genetics.

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements

R. Ravazzolo, R. Bocciardi, M. Rocco, 2009, European Journal of Human Genetics.

Clinical Presentation and Pathogenesis of Cold-Induced Autoinflammatory Disease in a Family With Recurrence of an NLRP 12 Mutation

A. Martini, A. Rubartelli, E. Traggiai, 2011 .

Characterization of a DNA binding site that mediates the stimulatory effect of cyclosporin-A on type III collagen expression in renal cells.

R. Ravazzolo, G. Botti, G. Ghiggeri, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2009, BMB reports.

Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome

S. Regis, F. Corsolini, M. Filocamo, 2003, American journal of medical genetics. Part A.

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2008, Human mutation.

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease

S. Regis, M. Filocamo, M. Duca, 2003, Human Genetics.

Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects

R. Ravazzolo, V. Jasonni, I. Ceccherini, 2009, Internal medicine journal.

Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.

A. Parmeggiani, L. Maltoni, I. Cecconi, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2011, Journal of Molecular Medicine.

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

R. Ravazzolo, S. Antonarakis, S. Gimelli, 2010, Genetics in Medicine.

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

R. Ravazzolo, F. Puppo, R. Hennekam, 2004, Journal of Medical Genetics.

A novel knock-in mouse model of CAPS that develops amyloidosis: therapeutic efficacy of proton pump inhibitors.

A. Martini, A. Rubartelli, A. Signori, 2020, The Journal of allergy and clinical immunology.

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

R. Ravazzolo, F. Puppo, R. Hennekam, 2004, Journal of Medical Genetics.

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient

S. Regis, F. Corsolini, M. Filocamo, 2004, European Journal of Human Genetics.