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Dana J. Orten

Boys Town

17

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801

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SIX1 Mutation Screening in 247 Branchio-Oto-Renal Syndrome Families: A Recurrent Missense Mutation

2008
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SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

2008 Human Mutation
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Branchio-Oto-Renal Syndrome (BOR): Novel Mutations in the EYA1 Gene, and a Review of the Mutational Genetics of BOR

2008 Human Mutation
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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

2007 American Journal of Human Genetics
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09:20: Branchio-Oto-Renal Syndrome: A Translational Research Model

2007 Otolaryngology-Head and Neck Surgery
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A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure

2004 Journal of Cell Science
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USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

2004 Human Mutation
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Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a

2004 Acta Ophthalmologica Scandinavica
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Nasal Cytology and Usher Syndrome Diagnosis

2004 Investigative Ophthalmology & Visual Science
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CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

2002 American Journal of Human Genetics
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Citations (184)