Smith, S D (2001) Relationships between neurologic disorders and hereditary hearing loss. Semin Pediatr Neurol 8:147-59
|
Smith, S D; Kelley, P M; Kenyon, J B et al. (2000) Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 37:446-8
|
Talebizadeh, Z; Kelley, P M; Askew, J W et al. (1999) Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat 14:493-501
|
Coucke, P J; Van Hauwe, P; Kelley, P M et al. (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet 8:1321-8
|
Kelley, P M; Abe, S; Askew, J W et al. (1999) Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Genomics 62:172-6
|
Cohn, E S; Kelley, P M; Fowler, T W et al. (1999) Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1) Pediatrics 103:546-50
|
Kelley, P M; Harris, D J; Comer, B C et al. (1998) Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62:792-9
|