Literature DB >> 21990207

ZIC2 mutations are seen in holoprosencephaly and not partial rhombencephalosynapsis.

Saurabh Guleria.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21990207     DOI： 10.1002/ajmg.a.34282

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


× No keyword cloud information.
  3 in total

Review 1.  Rhombencephalosynapsis: Fused cerebellum, confused geneticists.

Authors:  Kimberly A Aldinger; Jennifer C Dempsey; Hannah M Tully; Megan E Grout; Michele G Mehaffey; William B Dobyns; Dan Doherty
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-12       Impact factor: 3.908

2.  Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.

Authors:  Gisele E Ishak; Jennifer C Dempsey; Dennis W W Shaw; Hannah Tully; Margaret P Adam; Pedro A Sanchez-Lara; Ian Glass; Tessa C Rue; Kathleen J Millen; William B Dobyns; Dan Doherty
Journal:  Brain       Date:  2012-03-26       Impact factor: 13.501

3.  Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

Authors:  Hannah M Tully; Jennifer C Dempsey; Gisele E Ishak; Margaret P Adam; Cynthia J R Curry; Pedro Sanchez-Lara; Alasdair Hunter; Karen W Gripp; Judith Allanson; Christopher Cunniff; Ian Glass; Kathleen J Millen; Daniel Doherty; William B Dobyns
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.