Publications by authors named "Srirangan Sampath"

14Publications

Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

Eur J Med Genet 2014 Oct 10;57(10):562-6. Epub 2014 Aug 10.

Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, LA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.002DOI Listing
October 2014

Defining the contribution of CNTNAP2 to autism susceptibility.

PLoS One 2013 17;8(10):e77906. Epub 2013 Oct 17.

Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetics Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0077906PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798378PMC
June 2014

HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.

Am J Med Genet A 2011 May 7;155A(5):976-85. Epub 2011 Apr 7.

Department of Genetics, LSU Health Sciences Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.33971DOI Listing
May 2011

Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.

Mol Vis 2003 Feb 18;9:43-8. Epub 2003 Feb 18.

Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, Hyderabad, India.

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February 2003

Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.

Invest Ophthalmol Vis Sci 2002 Dec;43(12):3613-6

Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L. V. Prasad Eye Institute, India.

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December 2002