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Molecular Genetic Studies of Branchiogenic Disorders

Funding type: research
Funder scheme: R01
Start date: 2002-06-01
End date: 2007-05-31
Investigator: WILLIAM J KIMBERLING
Institution: FATHER FLANAGAN'S BOYS' HOME
Funded outputs count: 4
Funder award ID: R01DE014090
OpenAlex ID: G7547550776
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1
2008 · Michael S. Hildebrand, Jessica L. Sorensen, et al. · American Journal of Medical Genetics Part A · 21
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR
2008 · Dana J. Orten, Stephanie M. Fischer, et al. · Human Mutation · 96
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
2004 · Rainer G. Ruf, Pin-Xian Xu, et al. · Proceedings of the National Academy of Sciences · 425
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Inner Ear Anomalies Are Frequent but Nonobligatory Features of the Branchio-oto-renal Syndrome
2002 · Martijn H. Kemperman, Sacha M. P. Koch, et al. · Archives of Otolaryngology - Head and Neck Surgery · 35
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