Literature DB >> 11288711

Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.

G Borck, J Wirth, T Hardt, H Tönnies, K Brøndum-Nielsen, M Bugge, N Tommerup, H G Nothwang, H H Ropers, T Haaf.   

Abstract

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Year:  2001        PMID： 11288711      PMCID： PMC1734808          DOI： 10.1136/jmg.38.2.117

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

Review 1.  [Etiology and genetic aspects of Möbius sequence].

Authors:  H Gaspar
Journal:  Ophthalmologe       Date:  2010-08       Impact factor: 1.059

Review 2.  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

3.  Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Authors:  Lusine Nazaryan-Petersen; Inês R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup
Journal:  Hum Mutat       Date:  2019-05-14       Impact factor: 4.878

4.  Moebius syndrome: Craniofacial clinical manifestations and their association with prenatal exposure to misoprostol.

Authors:  Néstor O Ruge-Peña; Claudia Valencia; Dagoberto Cabrera; Daniel C Aguirre; Francisco Lopera
Journal:  Laryngoscope Investig Otolaryngol       Date:  2020-08-03

5.  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
  5 in total

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