Distinctive audiometric profile associated with DFNB21 alleles of TECTANAZ, S; ALASTI, F; MOWJOODI, A et al.Journal of medical genetics. 2003, Vol 40, Num 5, pp 360-363, issn 0022-2593, 4 p.Article

Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6)MOHIDDIN, S. A; AHMED, Z. M; GRIFFITH, A. J et al.Journal of medical genetics. 2004, Vol 41, Num 4, pp 309-314, issn 0022-2593, 6 p.Article

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafnessPARK, H.-J; SHAUKAT, S; RIAZUDDIN, S et al.Journal of medical genetics. 2003, Vol 40, Num 4, pp 242-248, issn 0022-2593, 7 p.Article

Familial Mondini dysplasiaGRIFFITH, A. J; TELIAN, S. A; DOWNS, C et al.The Laryngoscope. 1998, Vol 108, Num 9, pp 1368-1373, issn 0023-852XArticle

A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1KITAJIRI, S; MAKISHIMA, T; FRIEDMAN, T. B et al.Clinical genetics. 2007, Vol 71, Num 2, pp 148-152, issn 0009-9163, 5 p.Article

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndromeGRIFFITH, A. J; GEBARSKI, S. S; SHEPARD, N. T et al.Archives of otolaryngology, head & neck surgery. 2000, Vol 126, Num 7, pp 891-894, issn 0886-4470Conference Paper

Localization of the homolog of a mouse cranofacial mutant to human chromosome 18q11 and evaluation of linkage to human CLP and CPOGRIFFITH, A. J; BURGESS, D. L; KOHRMAN, D. C et al.Genomics (San Diego, Calif.). 1996, Vol 34, Num 3, pp 299-303, issn 0888-7543Article

Nucleotide sequence and genomic structure analyses of the p70 subunit of the human Ku autoantigen : evidence for a family of genes encoding Ku (p70)-related polypeptidesGRIFFITH, A. J; CRAFT, J; EVANS, J et al.Molecular biology reports. 1992, Vol 16, Num 2, pp 91-97, issn 0301-4851Article

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type IIINESS, S. L; BEN-YOSEF, T; GRIFFITH, A. J et al.Journal of medical genetics. 2003, Vol 40, Num 10, pp 767-772, issn 0022-2593, 6 p.Article

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delTGRIFFITH, A. J; CHOWDHRY, A. A; KURIMA, K et al.American journal of human genetics. 2000, Vol 67, Num 3, pp 745-749, issn 0002-9297Article

Marshall syndrome associated with a splicing defect at the COL11A1 locusGRIFFITH, A. J; SPRUNGER, L. K; SIRKO-OSADSA, D. A et al.American journal of human genetics. 1998, Vol 62, Num 4, pp 816-823, issn 0002-9297Article

Familial large vestibular aqueduct syndromeGRIFFITH, A. J; ARTS, H. A; DOWNS, C et al.The Laryngoscope. 1996, Vol 106, Num 8, pp 960-965, issn 0023-852XConference Paper

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA^Ser(UCN) in sensorineural hearing lossLABAY, V; GARRIDO, G; MADEO, A. C et al.Clinical genetics. 2008, Vol 73, Num 1, pp 50-54, issn 0009-9163, 5 p.Article

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that pendred syndrome and non-syndromic EVA are distinct clinical and genetic entitiesPRYOR, S. P; MADEO, A. C; GRIFFITH, A. J et al.Journal of medical genetics. 2005, Vol 42, Num 2, pp 159-165, issn 0022-2593, 7 p.Article

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in KoreansPARK, H.-J; LEE, S.-J; CHOI, J.-Y et al.Clinical genetics. 2005, Vol 67, Num 2, pp 160-165, issn 0009-9163, 6 p.Article

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA 13)MCGUIRT, W. T; PRASAD, S. D; KING, M.-C et al.Nature genetics. 1999, Vol 23, Num 4, pp 413-419, issn 1061-4036Article

Ku polypeptides synthesized in vitro assemble into complexes which recognize ends of double-stranded DNAGRIFFITH, A. J; BLIER, P. R; MIMORI, T et al.The Journal of biological chemistry (Print). 1992, Vol 267, Num 1, pp 331-338, issn 0021-9258Article

The murine gene encoding the highly conserved Sm B protein contains a nonfunctional alternative 3' splice siteGRIFFITH, A. J; SCHMAUSS, C; CRAFT, J et al.Gene (Amsterdam). 1992, Vol 114, Num 2, pp 195-201, issn 0378-1119Article

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?MADEO, A. C; MANICHAIKUL, A; PRYOR, S. P et al.Journal of medical genetics. 2009, Vol 46, Num 6, pp 405-406, issn 0022-2593, 2 p.Article

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in PakistanCHOI, B. Y; AHMED, Z. M; RIAZUDDIN, S et al.RIAZUDDIN, S et al.Clinical genetics. 2009, Vol 75, Num 3, pp 237-243, issn 0009-9163, 7 p.Article

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypesCHOI, B. Y; MADEO, A. C; KING, K. A et al.Journal of medical genetics. 2009, Vol 46, Num 12, pp 856-861, issn 0022-2593, 6 p.Article

A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1PETERS, L. M; FRIDELL, R. A; BOGER, E. T et al.Clinical genetics. 2008, Vol 73, Num 4, pp 367-372, issn 0009-9163, 6 p.Article

Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunctionNAZ, S; GRIFFITH, A. J; RIAZUDDIN, S et al.Journal of medical genetics. 2004, Vol 41, Num 8, pp 591-595, issn 0022-2593, 5 p.Article

Binding of Ku protein to DNA : measurement of affinity for ends and demonstration of binding to nicksBLIER, P. R; GRIFFITH, A. J; CRAFT, J et al.The Journal of biological chemistry (Print). 1993, Vol 268, Num 10, pp 7594-7601, issn 0021-9258Article