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Literature DB >> 1870098

Deletion of chromosome 13 in Moebius syndrome.

Abstract

A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.

Entities: Disease Gene Species

Mesh：

Year: 1991 PMID： 1870098 PMCID： PMC1016909 DOI： 10.1136/jmg.28.6.413

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

3 in total

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Authors: D Kumar
Journal: J Med Genet Date: 1990-02 Impact factor: 6.318

3. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors: T Ikeuchi
Journal: Cytogenet Cell Genet Date: 1984

3 in total

16 in total

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

Authors: J Wirth; H G Nothwang; S van der Maarel; C Menzel; G Borck; I Lopez-Pajares; K Brøndum-Nielsen; N Tommerup; M Bugge; H H Ropers; T Haaf
Journal: J Med Genet Date: 1999-04 Impact factor: 6.318

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Journal: Hum Genet Date: 1992-06 Impact factor: 4.132

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

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

Authors: Karen L Schmidt; Katherine Neiswanger; Ellen Cohn; Rebecca Desensi; Carla Brandon; Kathleen Bardi; Mary L Marazita
Journal: Cleft Palate Craniofac J Date: 2012-01-24

Review 6. 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

Review 7. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs).

Authors: A A Assaf
Journal: Eye (Lond) Date: 2011-07-01 Impact factor: 3.775

8. 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

9. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.

Authors: Elias I Traboulsi
Journal: Trans Am Ophthalmol Soc Date: 2004

Review 10. A developmental and genetic classification for midbrain-hindbrain malformations.

Authors: A James Barkovich; Kathleen J Millen; William B Dobyns
Journal: Brain Date: 2009-12 Impact factor: 13.501