Publications by authors named "Kala F Schilter"

8Publications

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

Am J Med Genet A 2017 Sep 7;173(9):2557-2561. Epub 2017 Jul 7.

Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

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September 2017

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Am J Med Genet A 2016 09 5;170(9):2471-5. Epub 2016 Jul 5.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin.

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September 2016

Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.

Mol Genet Genomic Med 2015 Nov 2;3(6):490-9. Epub 2015 Jun 2.

Department of Pediatrics and Children's Research InstituteMedical College of WisconsinMilwaukeeWisconsin53226; Department of Cell Biology, Neurobiology and AnatomyMedical College of WisconsinMilwaukeeWisconsin53226.

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November 2015

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Eur J Hum Genet 2012 Dec 9;20(12):1224-33. Epub 2012 May 9.

Department of Pediatrics and Children's Research Institute, Milwaukee, WI, USA.

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December 2012

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Invest Ophthalmol Vis Sci 2011 Mar 18;52(3):1450-9. Epub 2011 Mar 18.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

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March 2011