Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force-Reference-Cited by-同舟云学术

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Published:2017-04-11 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Rinaldi Berardo,Vaisfeld Alessandro,Amarri Sergio,Baldo Chiara,Gobbi Giuseppe,Magini Pamela,Melli Erto,Neri Giovanni,Novara Francesca,Pippucci Tommaso,Rizzi Romana,Soresina Annarosa,Zampini Laura,Zuffardi Orsetta,Crimi Marco

Funder

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0606-4.pdf

Reference51 articles.

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3. Nishiwaki T, Hirano M, Kumazawa M, Ueno S. Mosaicism and phenotype in ring chromosome 20 syndrome. Acta Neurol Scand. 2005;111:205–8.

4. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, Zuffardi O. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring chromosome is caused by ring instability. Hum Genet. 1993;92:23–7.

5. Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta CS, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J Med Genet. 2008;45:147–54.

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