Srirangan Sampath

Srirangan Sampath

UNVERIFIED PROFILE

Are you Srirangan Sampath?   Register this Author

Register author
Srirangan Sampath

Srirangan Sampath

Publications by authors named "Srirangan Sampath"

Are you Srirangan Sampath?   Register this Author

14Publications

349Reads

28Profile Views

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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
December 2002