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Isabella Ceccherini

Researcher at Istituto Giannina Gaslini

Publications -  283
Citations -  17426

Isabella Ceccherini is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Gene & Congenital central hypoventilation syndrome. The author has an hindex of 54, co-authored 265 publications receiving 15645 citations. Previous affiliations of Isabella Ceccherini include Saint Petersburg State Pediatric Medical University & University of Sussex.

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
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A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

Robert M. W. Hofstra, +11 more
- 27 Jan 1994 - 
TL;DR: It is shown that MEN 2B is also associated with mutation of the RET proto-oncogene, and a mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated men 2B patients studied.
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SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

Veronique Pingault, +17 more
- 01 Feb 1998 - 
TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.
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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, +10 more
- 27 Jan 1994 - 
TL;DR: The hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system is supported.
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An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

Debra E. Weese-Mayer, +5 more
- 15 Mar 2010 - 
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.