Richard J Smith
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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
GS Hageman, DH Anderson, LV Johnson, LS Hancox, AJ Taiber, ...
Proceedings of the National Academy of Sciences 102 (20), 7227-7232, 2005
Sensorineural hearing loss in children
RJH Smith, JF Bale Jr, KR White
The Lancet 365 (9462), 879-890, 2005
A candidate prostate cancer susceptibility gene at chromosome 17p
SV Tavtigian, J Simard, DHF Teng, V Abtin, M Baumgard, A Beck, ...
Nature genetics 27 (2), 172-180, 2001
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
N Hilgert, RJH Smith, G Van Camp
Mutation Research/Reviews in Mutation Research 681 (2-3), 189-196, 2009
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
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
Nonsyndromic hearing impairment: unparalleled heterogeneity.
G Van Camp, PJ Willems, RJ Smith
American journal of human genetics 60 (4), 758, 1997
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
GE Green, DA Scott, JM McDonald, GG Woodworth, VC Sheffield, ...
Jama 281 (23), 2211-2216, 1999
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update
GB Appel, HT Cook, G Hageman, JC Jennette, M Kashgarian, ...
Journal of the American Society of Nephrology 16 (5), 1392-1403, 2005
C3 glomerulopathy: consensus report
MC Pickering, VD D'agati, CM Nester, RJ Smith, M Haas, GB Appel, ...
Kidney international 84 (6), 1079-1089, 2013
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
K Verhoeven, L Van Laer, K Kirschhofer, PK Legan, DC Hughes, ...
Nature genetics 19 (1), 60-62, 1998
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ...
Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004
Clinical diagnosis of the Usher syndromes
RJH Smith, CI Berlin, JF Hejtmancik, BJB Keats, WJ Kimberling, RA Lewis, ...
American journal of medical genetics 50 (1), 32-38, 1994
Temperature triggered self-assembly of polypeptides into multivalent spherical micelles
MR Dreher, AJ Simnick, K Fischer, RJ Smith, A Patel, M Schmidt, ...
Journal of the American Chemical Society 130 (2), 687-694, 2008
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations
C Campbell, RA Cucci, S Prasad, GE Green, JB Edeal, CE Galer, ...
Human mutation 17 (5), 403-411, 2001
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing …
FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ...
Journal of medical genetics 42 (7), 588-594, 2005
Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
I Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ...
The American Journal of Human Genetics 73 (6), 1452-1458, 2003
Eculizumab for dense deposit disease and C3 glomerulonephritis
AS Bomback, RJ Smith, GR Barile, Y Zhang, EC Heher, L Herlitz, ...
Clinical Journal of the American Society of Nephrology 7 (5), 748-756, 2012
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
KN Alagramam, H Yuan, MH Kuehn, CL Murcia, S Wayne, ...
Human molecular genetics 10 (16), 1709-1718, 2001
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola, S Scherer, ...
Proceedings of the National Academy of Sciences 107 (49), 21104-21109, 2010
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