Zobrazeno 1 - 10
of 10
pro vyhledávání: '"M. L. KRAFT"'
Autor:
John H. Greinwald, R.E. Swiderski, Michael Lovett, Rivka Carmi, Kristien Verhoeven, C. R. Srikumari Srisailapathy, A. Viñas, M. L. Kraft, A.B. Skworak, Khalil Elbedour, Daryl A. Scott, Prescott L. Deininger, J.R. Marietta, G. Van Camp, Arabandi Ramesh, Margaret M. DeAngelis, Richard J.H. Smith, Cynthia C. Morton, Mark A. Batzer, Val C. Sheffield, S. Drury, Rick A. Friedman, Bronya J.B. Keats
Publikováno v:
Gene. 215:461-469
The DFNB7/11 locus for autosomal recessive non-syndromic hearing loss (ARNSHL) has been mapped to an approx. 1.5 Mb interval on human chromosome 9q13-q21. We have determined the cDNA sequence and genomic structure of a novel cochlear-expressed gene,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb837127a906683d6d0cd7971ba19e88
https://doi.org/10.1016/s0378-1119(98)00316-3
https://doi.org/10.1016/s0378-1119(98)00316-3
Autor:
M. L. Kraft, Guy Van Camp, Paul Coucke, Sigrid Wayne, John H. Greinwald, Ross I. S. Zbar, Achih H. Chen, Richard J.H. Smith, C. R. Srikumari Srisailapathy, Michael Lovett, Sai Prasad, Daryl A. Scott, Arabandi Ramesh
Publikováno v:
American journal of medical genetics
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was map
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a168e9b0034112b8e626e282081d52
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<107::aid-ajmg2>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980630)78:2<107::aid-ajmg2>3.0.co
Autor:
Val C. Sheffield, Richard J.H. Smith, Rivka Carmi, Y. Yairi, G. Van Camp, A. E. Markham, Daryl A. Scott, Khalil Elbedour, C. R. Srikumari Srisailapathy, Arabandi Ramesh, M. L. Kraft, Sally Rosengren, R. E. Mueller, Nicholas Lench
Publikováno v:
Human Mutation. 11:387-394
Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c9c87525ab5a467228c8c4279fa4274
https://doi.org/10.1002/(sici)1098-1004(1998)11:5<387::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:5<387::aid-humu6>3.0.co
Autor:
Cynthia C. Morton, Anne B. Skvorak, Rivka Carmi, Ross I. S. Zbar, M Musy, Khalil Elbedour, M. L. Kraft, C. R.S. Srisailapathy, Richard J.H. Smith, Val C. Sheffield, Jacquie Marietta, Arabandi Ramesh, Michael Lovett, Jose M. Manaligod, G. Van Camp, Y. Yairi, Daryl A. Scott, John H. Greinwald
Publikováno v:
Genome Research. 7:879-886
DFNB7 and DFNB11, two loci for autosomal recessive nonsyndromic hearing loss (ARNSHL), have been mapped to chromosome 9q13–21 in separate consanguineous families. Using a radiation hybrid map, we have determined the correct marker order in the DFNB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ed3d76fb18b2bf052fbb3f1f44ed2fb
https://doi.org/10.1101/gr.7.9.879
https://doi.org/10.1101/gr.7.9.879
Autor:
J H, Greinwald, S, Wayne, A H, Chen, D A, Scott, R I, Zbar, M L, Kraft, S, Prasad, A, Ramesh, P, Coucke, C R, Srisailapathy, M, Lovett, G, Van Camp, R J, Smith
Publikováno v:
American journal of medical genetics. 78(2)
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was map
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bb77e52bcb33b953df0020f2c655885b
https://pubmed.ncbi.nlm.nih.gov/9674898
https://pubmed.ncbi.nlm.nih.gov/9674898
Autor:
D A, Scott, M L, Kraft, R, Carmi, A, Ramesh, K, Elbedour, Y, Yairi, C R, Srisailapathy, S S, Rosengren, A F, Markham, R F, Mueller, N J, Lench, G, Van Camp, R J, Smith, V C, Sheffield
Publikováno v:
Human mutation. 11(5)
Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cab58ea49a34b35ddd14d59b247ca9be
https://pubmed.ncbi.nlm.nih.gov/9600457
https://pubmed.ncbi.nlm.nih.gov/9600457
Autor:
César Augusto Alvarenga, A. J. Fernandez Sagarra, Luiz Carlos Teixeira, M. L. Kraft, Marcelo Alvarenga
Publikováno v:
Journal of Clinical Oncology. 24:10698-10698
10698 Objectives: To retrospectively evaluate the relationship between HER2/neu status, pts’ characteristics, prognostic factors and clinical outcome in LABC women treated with neoadjuvant anthracycline-based CHT. Patients and Methods: 118 pts. wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ce9b85225f2c286926a623538cb3b0f
https://doi.org/10.1200/jco.2006.24.18_suppl.10698
https://doi.org/10.1200/jco.2006.24.18_suppl.10698
Publikováno v:
Nature. 391:32-32
Kelsell et al.1 provide convincing evidence that mutations in the gene encoding the gap-junction protein connexin 26 (Cx26) are responsible for autosomal recessive non-syndromic hearing loss at the DFNB1 locus on chromosome 13q12. They also report a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36df250a033f7a328203ae8d07c59830
https://doi.org/10.1038/34079
https://doi.org/10.1038/34079
Autor:
Robert M. Jimeson, GORDON K. ZARESKI, THOMAS W. HUNTER, GENE P. MORRELL, DAVID R. OLIVER, J. LISLE REED, KURT E. YEAGER, J. W. HAMERSMA, M. L. KRAFT, E. P. KOUTSOUKAS, R. A. MEYERS, ROBERT G. SHAVER, S. A. QADER, G. R. HILL, A. A. GREGOLI, G. R. HARTOS, AXEL R. JOHNSON, RONALD H. WOLK, RAYMOND F. HIPPELI, GOVANON NONGBRI, ROBERT J. BELT, MICHAEL M. RODER, M. R. GOGINENI, W. C. TAYLOR, A. L. PLUMLEY, JAMES JONAKIN, ROBERT J. GLEASON, FRANK HEACOCK, RICHARD S. ATKINS, S. J. YOSIM, L. F. GRANTHAM, D. E. McKENZIE, G. C. STEGMANN, F. J. BALL, G. N. BROWN, J. E. DAVIS, A. J. REPIK, S. L. TORRENCE, C. C. SHALE, G. A. CHAPPELL, D. W. PERSHING, E. E. BERKAU
Autor:
THOMAS D. WHEELOCK, RAYMOND T. GREER, JOHN K. KUHN, B. PARIS, J. A. CAVALLARO, A. W. DEURBROUCK, PHILIP H. HOWARD, RABINDER S. DATTA, F. F. APLAN, SEONGWOO MIN, T. D. WHEELOCK, D. C. WILSON, HAYDN H. MURRAY, C. J. LIN, Y. A. LIU, J. W. HAMERSMA, M. L. KRAFT, R. A. MEYERS, L. J. VAN NICE, M. J. SANTY, E. P. KOUTSOUKOS, R. A. ORSINI, SIDNEY FRIEDMAN, ROBERT B. LACOUNT, ROBERT P. WARZINSKI, S. S. SAREEN, C. Y. TAI, G. V. GRAVES, EDGEL P. STAMBAUGH, GEORGE C. HSU, JOHN J. KALVINSKAS, PARTHA S. GANGULI, GEORGE R. GAVALAS, G. J. W. KOR, N. S. BOODMAN, T. F. JOHNSON, K. C. KRUPINSKI, DONALD K. FLEMING, ROBERT D. SMITH, MARIA ROSARIO Y. AQUINO, ANN B. TIPTON, EDMUND TAO KANG HUANG, ALLEN H. PULSIFER, G. B. HALDIPUR