Isabella Ceccherini
Isabella Ceccherini
Istituto Giannina Gaslini, Genova, Italy
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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
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
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), 377-378, 1994
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
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
RET mutations in human disease
B Pasini, I Ceccherini, G Romeo
Trends in genetics 12 (4), 138-144, 1996
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
Guidelines for the genetic diagnosis of hereditary recurrent fevers
Y Shinar, L Obici, I Aksentijevich, B Bennetts, F Austrup, I Ceccherini, ...
Annals of the rheumatic diseases 71 (10), 1599-1605, 2012
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
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
Classification criteria for autoinflammatory recurrent fevers
M Gattorno, M Hofer, S Federici, F Vanoni, F Bovis, I Aksentijevich, ...
Annals of the rheumatic diseases 78 (8), 1025-1032, 2019
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
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study
R Caorsi, F Penco, A Grossi, A Insalaco, A Omenetti, M Alessio, G Conti, ...
Annals of the rheumatic diseases 76 (10), 1648-1656, 2017
Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene
AV Marzano, V Trevisan, M Gattorno, I Ceccherini, C De Simone, C Crosti
JAMA dermatology 149 (6), 762-764, 2013
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
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
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
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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