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Andrew J Griffith
Andrew J Griffith
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Geverifieerd e-mailadres voor nidcd.nih.gov
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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
JM Bork, LM Peters, S Riazuddin, SL Bernstein, ZM Ahmed, SL Ness, ...
The American Journal of Human Genetics 68 (1), 26-37, 2001
6312001
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
ER Wilcox, QL Burton, S Naz, S Riazuddin, TN Smith, B Ploplis, ...
Cell 104 (1), 165-172, 2001
5572001
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
K Kurima, LM Peters, Y Yang, S Riazuddin, ZM Ahmed, S Naz, D Arnaud, ...
Nature genetics 30 (3), 277-284, 2002
4802002
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
ZM Ahmed, S Riazuddin, SL Bernstein, Z Ahmed, S Khan, AJ Griffith, ...
The American Journal of Human Genetics 69 (1), 25-34, 2001
4712001
Binding of Ku protein to DNA. Measurement of affinity for ends and demonstration of binding to nicks.
PR Blier, AJ Griffith, J Craft, JA Hardin
journal of Biological Chemistry 268 (10), 7594-7601, 1993
4231993
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
HJ Park, S Shaukat, XZ Liu, SH Hahn, S Naz, M Ghosh, HN Kim, SK Moon, ...
Journal of medical genetics 40 (4), 242-248, 2003
4052003
Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes
Y Kawashima, GSG Géléoc, K Kurima, V Labay, A Lelli, Y Asai, ...
The Journal of clinical investigation 121 (12), 4796-4809, 2011
4032011
TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear
B Pan, GS Géléoc, Y Asai, GC Horwitz, K Kurima, K Ishikawa, ...
Neuron 79 (3), 504-515, 2013
3972013
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
IA Belyantseva, ET Boger, S Naz, GI Frolenkov, JR Sellers, ZM Ahmed, ...
Nature cell biology 7 (2), 148-156, 2005
3722005
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
AM Oza, MT DiStefano, SE Hemphill, BJ Cushman, AR Grant, RK Siegert, ...
Human mutation 39 (11), 1593-1613, 2018
3492018
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
ZM Ahmed, S Riazuddin, J Ahmad, SL Bernstein, Y Guo, MF Sabar, ...
Human molecular genetics 12 (24), 3215-3223, 2003
3272003
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
WT McGuirt, SD Prasad, AJ Griffith, HPM Kunst, GE Green, KB Shpargel, ...
Nature genetics 23 (4), 413-419, 1999
3191999
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15
ZM Ahmed, R Goodyear, S Riazuddin, A Lagziel, PK Legan, M Behra, ...
Journal of Neuroscience 26 (26), 7022-7034, 2006
3062006
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 …
SP Pryor, AC Madeo, JC Reynolds, NJ Sarlis, KS Arnos, WE Nance, ...
Journal of medical genetics 42 (2), 159-165, 2005
3032005
Human nonsyndromic sensorineural deafness
TB Friedman, AJ Griffith
Annual review of genomics and human genetics 4 (1), 341-402, 2003
2992003
Genetic insights into the morphogenesis of inner ear hair cells
GI Frolenkov, IA Belyantseva, TB Friedman, AJ Griffith
Nature Reviews Genetics 5 (7), 489-498, 2004
2822004
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
S Vreugde, A Erven, CJ Kros, W Marcotti, H Fuchs, K Kurima, ER Wilcox, ...
Nature genetics 30 (3), 257-258, 2002
2782002
Mutations of MYO6 are associated with recessive deafness, DFNB37
ZM Ahmed, RJ Morell, S Riazuddin, A Gropman, S Shaukat, MM Ahmad, ...
The American Journal of Human Genetics 72 (5), 1315-1322, 2003
2292003
Modification of human hearing loss by plasma-membrane calcium pump PMCA2
JM Schultz, Y Yang, AJ Caride, AG Filoteo, AR Penheiter, A Lagziel, ...
New England Journal of Medicine 352 (15), 1557-1564, 2005
2052005
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearing
S Kitajiri, T Sakamoto, IA Belyantseva, RJ Goodyear, R Stepanyan, ...
Cell 141 (5), 786-798, 2010
1962010
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Artikelen 1–20