Publications by authors named "James Fielding Hejtmancik"

4Publications

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1.

J Hum Genet 2012 Dec 23;57(12):756-9. Epub 2012 Aug 23.

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

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http://dx.doi.org/10.1038/jhg.2012.103DOI Listing
December 2012

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46.

Mol Vis 2006 Sep 1;12:1033-9. Epub 2006 Sep 1.

The Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark.

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September 2006

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Mol Vis 2006 May 22;12:518-22. Epub 2006 May 22.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India.

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May 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Mol Vis 2006 Feb 21;12:93-9. Epub 2006 Feb 21.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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February 2006