Isabella Ceccherini
Isabella Ceccherini
Istituto Giannina Gaslini, Genova, Italy
Verified email at
TitleCited byYear
Guidelines for the use and interpretation of assays for monitoring autophagy
DJ Klionsky, et al
Autophagy 12 (1), 1-222, 2016
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia syndrome type 2B and sporadic medullary thyroid carcinoma
RMW Hofstra, RM Landsvater, I Ceccherini, RP Stulp, T Stelwagen, Y Luo, ...
Nature 367, 375-6, 1994
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
G Romeo, P Ronchetto, Y Luo, V Barone, M Seri, I Ceccherini, B Pasini, ...
Nature 367 (6461), 377, 1994
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
V Pingault, N Bondurand, K Kuhlbrodt, DE Goerich, MO Préhu, A Puliti, ...
Nature genetics 18 (2), 171-173, 1998
Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, ...
Journal of medical genetics 45 (1), 1-14, 2008
An official ATS clinical policy statement: congenital central hypoventilation syndrome: genetic basis, diagnosis, and management
DE Weese-Mayer, EM Berry-Kravis, I Ceccherini, TG Keens, ...
American journal of respiratory and critical care medicine 181 (6), 626-644, 2010
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central …
I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, GM Casiraghi, ...
Journal of medical genetics 41 (5), 373-380, 2004
RET mutations in human disease
B Pasini, I Ceccherini, G Romeo
Trends in Genetics 12 (4), 138-144, 1996
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
I Ceccherini, RM Hofstra, Y Luo, RP Stulp, V Barone, T Stelwagen, ...
Oncogene 9 (10), 3025-3029, 1994
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
ES Emison, M Garcia-Barcelo, EA Grice, F Lantieri, J Amiel, G Burzynski, ...
The American Journal of Human Genetics 87 (1), 60-74, 2010
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
M Gattorno, MP Sormani, A D'osualdo, MA Pelagatti, F Caroli, S Federici, ...
Arthritis & Rheumatism: Official Journal of the American College of …, 2008
Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence.
C Romei, R Elisei, A Pinchera, I Ceccherini, E Molinaro, F Mancusi, ...
The Journal of Clinical Endocrinology & Metabolism 81 (4), 1619-1622, 1996
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
AOM Wilkie, DR Higgs, KA Rack, VJ Buckle, NK Spurr, ...
Cell 64 (3), 595-606, 1991
Special basic science review: Pathogenesis of Hirschsprung's disease
G Martucciello, I Ceccherini, M Lerone, V Jasonni
Journal of pediatric surgery 35 (7), 1017-1025, 2000
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: pathogenetic and clinical implications
A D'Osualdo, F Ferlito, I Prigione, L Obici, A Meini, F Zulian, A Pontillo, ...
Arthritis & Rheumatism 54 (3), 998-1008, 2006
Differentiating PFAPA syndrome from monogenic periodic fevers
M Gattorno, R Caorsi, A Meini, M Cattalini, S Federici, F Zulian, E Cortis, ...
Pediatrics 124 (4), e721-e728, 2009
Frequency of RET mutations in long‐and short‐segment Hirschsprung disease
M Seri, L Yin, V Barone, A Bolino, I Celli, R Bocciardi, B Pasini, ...
Human mutation 9 (3), 243-249, 1997
Clinical presentation and pathogenesis of cold‐induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation
S Borghini, S Tassi, S Chiesa, F Caroli, S Carta, R Caorsi, M Fiore, ...
Arthritis & Rheumatism 63 (3), 830-839, 2011
The physical map of the human RET proto-oncogene.
B Pasini, RM Hofstra, L Yin, R Bocciardi, G Santamaria, PM Grootscholten, ...
Oncogene 11 (9), 1737-1743, 1995
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature
D Pareyson, R Fancellu, C Mariotti, S Romano, A Salmaggi, F Carella, ...
Brain 131 (9), 2321-2331, 2008
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