Literature DB >> 15150782

The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis.

John C Carey.   

Abstract

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Year:  2004        PMID： 15150782     DOI： 10.1002/ajmg.a.20689

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Authors:  Aida Telegrafi; Bryn D Webb; Sarah M Robbins; Carlos E Speck-Martins; David FitzPatrick; Leah Fleming; Richard Redett; Andreas Dufke; Gunnar Houge; Jeske J T van Harssel; Alain Verloes; Angela Robles; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs; David Valle; John Carey; Julie E Hoover-Fong; Nara L M Sobreira
Journal:  Am J Med Genet A       Date:  2017-08-04       Impact factor: 2.802

2.  Loss of Myomixer Results in Defective Myoblast Fusion, Impaired Muscle Growth, and Severe Myopathy in Zebrafish.

Authors:  Ping Wu; Pengzheng Yong; Zhanxiong Zhang; Rui Xu; Renjie Shang; Jun Shi; Jianshe Zhang; Pengpeng Bi; Elizabeth Chen; Shaojun Du
Journal:  Mar Biotechnol (NY)       Date:  2022-09-09       Impact factor: 3.727

3.  Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.

Authors:  Andres Ramirez-Martinez; Yichi Zhang; Marie-Jose van den Boogaard; John R McAnally; Cristina Rodriguez-Caycedo; Andreas C Chai; Francesco Chemello; Maarten Pg Massink; Inge Cuppen; Martin G Elferink; Robert Jj van Es; Nard G Janssen; Linda Pam Walraven-van Oijen; Ning Liu; Rhonda Bassel-Duby; Richard H van Jaarsveld; Eric N Olson
Journal:  J Clin Invest       Date:  2022-06-01       Impact factor: 19.456

4.  A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Authors:  Silvio Alessandro Di Gioia; Samantha Connors; Norisada Matsunami; Jessica Cannavino; Matthew F Rose; Nicole M Gilette; Pietro Artoni; Nara Lygia de Macena Sobreira; Wai-Man Chan; Bryn D Webb; Caroline D Robson; Long Cheng; Carol Van Ryzin; Andres Ramirez-Martinez; Payam Mohassel; Mark Leppert; Mary Beth Scholand; Christopher Grunseich; Carlos R Ferreira; Tyler Hartman; Ian M Hayes; Tim Morgan; David M Markie; Michela Fagiolini; Amy Swift; Peter S Chines; Carlos E Speck-Martins; Francis S Collins; Ethylin Wang Jabs; Carsten G Bönnemann; Eric N Olson; John C Carey; Stephen P Robertson; Irini Manoli; Elizabeth C Engle
Journal:  Nat Commun       Date:  2017-07-06       Impact factor: 14.919

5.  Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Authors:  Carola Hedberg-Oldfors; Christopher Lindberg; Anders Oldfors
Journal:  Neurol Genet       Date:  2018-07-23

Review 6.  A framework for the evaluation of patients with congenital facial weakness.

Authors:  Bryn D Webb; Irini Manoli; Elizabeth C Engle; Ethylin W Jabs
Journal:  Orphanet J Rare Dis       Date:  2021-04-07       Impact factor: 4.123
  6 in total

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