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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee. Weese-Mayer DE, et al. Among authors: ceccherini i. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST. Am J Respir Crit Care Med. 2010. PMID: 20208042
[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society. Weese-Mayer DE, et al. Among authors: ceccherini i. Rev Mal Respir. 2013 Oct;30(8):706-33. doi: 10.1016/j.rmr.2013.03.007. Epub 2013 Jun 4. Rev Mal Respir. 2013. PMID: 24182656 French. No abstract available.
Proceedings of the fourth international conference on central hypoventilation.
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium. Trang H, et al. Among authors: ceccherini i. Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. Orphanet J Rare Dis. 2014. PMID: 25928806 Free PMC article. Review.
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M. Trang H, et al. Among authors: ceccherini i. Orphanet J Rare Dis. 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. Orphanet J Rare Dis. 2020. PMID: 32958024 Free PMC article. Review.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. Zhou A, et al. Among authors: ceccherini i. Genet Med. 2021 Sep;23(9):1656-1663. doi: 10.1038/s41436-021-01178-x. Epub 2021 May 6. Genet Med. 2021. PMID: 33958749 Free article.
265 results