引用次数
引用: 21,411
H-指数: 83
I10-指数 : 204
出版物: 327
Combinative oligonucleotide-directed large deletions as a strategy for surveying the regulatory region of a gene.
Wallrath Ll , Friedman Tb
BioTechniques 12 ( 2) 214 -216
1992
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.
T B Friedman , J H Asher , R Morell
American Journal of Human Genetics 48 ( 1) 43 -52
36
1991
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
J T Hinnant , Y Liang , T B Friedman , J H Asher
Journal of Medical Genetics 32 ( 5) 336 -343
34
1995
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).
R Morell , T B Friedman , J H Asher , L G Robbins
Journal of Medical Genetics 34 ( 6) 447 -452
20
1997
Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.
M L Carey , T B Friedman , J H Asher , J W Innis
Journal of Medical Genetics 35 ( 3) 248 -250
15
1998
Mouse and hamster mutants as models for Waardenburg syndromes in humans.
J H Asher , T B Friedman
Journal of Medical Genetics 27 ( 10) 618 -626
45
1990
Molecular characterization of the Drosophila melanogaster urate oxidase gene, an ecdysone-repressible gene expressed only in the malpighian tubules.
L L Wallrath , J B Burnett , T B Friedman
Molecular and Cellular Biology 10 ( 10) 5114 -5127
49
1990
Genotype–Phenotype Correlations of R245X of PCDH15 Encoding Protocadherin–15
A. Madeo , C. Zalewski , A. Griffith , J. Schultz
Investigative Ophthalmology & Visual Science 47 ( 13) 5327 -5327
2006
Estudios citogenéticos y moleculares en una población sorda institucionalizada con síndrome de Waardenburg en Colombia
NY Gelvez , M Rodríguez , MC Lattig , JC Prieto
Acta Biológica Colombiana 6 ( 2) 4
2001
Temporal control of urate oxidase activity in Drosophila: evidence of an autonomous timer in malpighian tubules
T. Friedman , D. Johnson
Science 197 ( 4302) 477 -479
24
1977
Analysis of simple tandem repeat (STR) marker allele distributions in a Balinese population
R. Morell , J.H. Ashler , T.B. Friedman
American Journal of Human Genetics 55
1994
A gene responsible for profound congenital nonsyndromal recessive deafness maps to the pericentromeric region of chromosome 17
Y. Liang , J.H. Asher , T.B. Friedman
American Journal of Human Genetics 55
1994
Reduced ERG Amplitudes in the Absence of Retinal Degeneration in Deaf Ames Waltzer Mice
T.B. Friedman , R.A. Bush , S. Kjellstrom , R.J. L. Haywood–Watson
Investigative Ophthalmology & Visual Science 47 ( 13) 1420 -1420
2006
Dinucleotide repeat polymorphism at D14S542.
M.L. Carey , Y. Liang , T.D. Barber , R. Morell
Human Molecular Genetics 3 ( 9) 1712 -1712
1994
DFNB3 Families and Shaker-2 Mice: Mutations in an Unconventional Myosin, MYO 15
T.B. Friedman , J.T. Hinnant , R.A. Fridell , E.R. Wilcox
Advances in oto-rhino-laryngology 56 131 -144
12
2000
Genetic causes of moderate to severe hearing loss point to modifiers.
S. Naz , A. Imtiaz , G. Mujtaba , A. Maqsood
Clinical Genetics 91 ( 4) 589 -598
24
2017
Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
R. Faridi , A.U. Rehman , R.J. Morell , P.L. Friedman
Clinical Genetics 91 ( 2) 328 -332
20
2017
CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness
L.M. Astuto , J.M. Bork , M.D. Weston , J.W. Askew
American Journal of Human Genetics 71 ( 2) 262 -275
174
2002
Genetic modifiers of hereditary hearing loss.
S. Riazuddin , Z.M. Ahmed , T.B. Friedman , A.J. Griffith
Advances in oto-rhino-laryngology 61 224 -229
5
2002
Clinical manifestations of DFNB29 deafness.
Z.M. Ahmed , S. Riazuddin , T.B. Friedman , S. Riazuddin
Advances in oto-rhino-laryngology 61 156 -160
6
2002