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Items: 10

1.

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

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.

Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984.

2.

Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study.

McClure P, Booy D, Katarincic J, Eberson C.

Int J Pediatr. 2016;2016:9736723. doi: 10.1155/2016/9736723. Epub 2016 Feb 8.

3.

Nasolabial fold discontinuity during speech as a possible extended cleft phenotype.

Schmidt KL, Neiswanger K, Cohn E, Desensi R, Brandon C, Bardi K, Marazita ML.

Cleft Palate Craniofac J. 2013 Mar;50(2):201-6. doi: 10.1597/11-103. Epub 2012 Jan 24.

4.

Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

Assaf AA.

Eye (Lond). 2011 Oct;25(10):1251-61. doi: 10.1038/eye.2011.38. Epub 2011 Jul 1. Review.

5.

A developmental and genetic classification for midbrain-hindbrain malformations.

Barkovich AJ, Millen KJ, Dobyns WB.

Brain. 2009 Dec;132(Pt 12):3199-230. doi: 10.1093/brain/awp247. Review.

7.

The genetics of strabismus.

Michaelides M, Moore AT.

J Med Genet. 2004 Sep;41(9):641-6. Review.

8.

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

Verzijl HT, van den Helm B, Veldman B, Hamel BC, Kuyt LP, Padberg GW, Kremer H.

Am J Hum Genet. 1999 Sep;65(3):752-6.

9.

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T.

J Med Genet. 1999 Apr;36(4):271-8.

10.

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Tommerup N.

J Med Genet. 1993 Sep;30(9):713-27. Review. No abstract available.

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