|
Green, Glenn E; Scott, Daryl A; McDonald, Joshua M et al. (2002) Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 109:167-70
|
|
Campbell, C; Cucci, R A; Prasad, S et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17:403-11
|
|
Scott, D A; Drury, S; Sundstrom, R A et al. (2000) Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene 246:265-74
|
|
Green, G E; Scott, D A; McDonald, J M et al. (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-6
|
|
Scott, D A; Wang, R; Kreman, T M et al. (1999) The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-3
|
|
Brennan, T M; Landau, D; Shalev, H et al. (1998) Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62:355-61
|
|
Parvari, R; Hershkovitz, E; Kanis, A et al. (1998) Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet 63:163-9
|
|
Scott, D A; Kraft, M L; Carmi, R et al. (1998) Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 11:387-94
|
|
Heaney, C; Shalev, H; Elbedour, K et al. (1998) Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet 7:1407-10
|
|
Haider, N B; Carmi, R; Shalev, H et al. (1998) A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet 63:1404-10
|
Showing the most recent 10 out of 50 publications
