Literature DB >> 20635408

New report of a familial case of Moebius syndrome presenting skeletal findings.

Carla Graziadio1, Marina B Lorenzen, Rafael F M Rosa, Louise L C Pinto, Paulo R G Zen, Giovanni M Travi, Fabiana Valiatti, Giorgio A Paskulin.   

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Year:  2010        PMID： 20635408     DOI： 10.1002/ajmg.a.33548

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


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  5 in total

Review 1.  Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.

Authors:  Sameep Kadakia; Samuel N Helman; Thomas Schwedhelm; Masoud Saman; Babak Azizzadeh
Journal:  Oral Maxillofac Surg       Date:  2015-02-10

2.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Authors:  Sarah MacKinnon; Darren T Oystreck; Caroline Andrews; Wai-Man Chan; David G Hunter; Elizabeth C Engle
Journal:  Ophthalmology       Date:  2014-03-06       Impact factor: 12.079

3.  An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Authors:  Ronak M Patel; David Liu; Claudia Gonzaga-Jauregui; Shalini Jhangiani; James T Lu; V Reid Sutton; Susan D Fernbach; Mahshid Azamian; Lisa White; Jane C Edmond; Evelyn A Paysse; John W Belmont; Donna Muzny; James R Lupski; Richard A Gibbs; Richard Alan Lewis; Brendan H Lee; Seema R Lalani; Philippe M Campeau
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03

4.  Moebius sequence -a multidisciplinary clinical approach.

Authors:  Line Kjeldgaard Pedersen; Rikke Damkjær Maimburg; Jens Michael Hertz; Hans Gjørup; Thomas Klit Pedersen; Bjarne Møller-Madsen; John Rosendahl Østergaard
Journal:  Orphanet J Rare Dis       Date:  2017-01-06       Impact factor: 4.123

5.  Difficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report.

Authors:  Aya Oda; Kana Oue; Yuki Oda; Shima Taguchi; Tamayo Takahashi; Akari Mukai; Mitsuru Doi; Yoshitaka Shimizu; Masahiro Irifune; Mitsuhiro Yoshida
Journal:  BMC Anesthesiol       Date:  2022-10-11       Impact factor: 2.376
  5 in total

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