Zobrazeno 1 - 10 of 17 pro vyhledávání: '"R. P. Ketterling"'
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Akademický článek
European LeukemiaNet-defined primary refractory acute myeloid leukemia: the value of allogeneic hematopoietic stem cell transplant and overall response
Autor: K. H. Begna, J. Kittur, N. Gangat, H. Alkhateeb, M. S. Patnaik, A. Al-Kali, M. A. Elliott, W. J. Hogan, M. R. Litzow, A. Pardanani, C. A. Hanson, R. P. Ketterling, A. Tefferi
Publikováno v: Blood Cancer Journal, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract We sought to appraise the value of overall response and salvage chemotherapy, inclusive of allogeneic hematopoietic stem cell transplant (AHSCT), in primary refractory acute myeloid leukemia (prAML). For establishing consistency in clinical
Externí odkaz: https://doaj.org/article/4883604e468f479bbb604b57a39becff
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3
Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes
Autor: M M, Patnaik, E, Padron, R R, LaBorde, T L, Lasho, C M, Finke, C A, Hanson, J M, Hodnefield, R A, Knudson, R P, Ketterling, A, Al-kali, A, Pardanani, N A, Ali, R S, Komrokji, R S, Komroji, A, Tefferi
Publikováno v: Leukemia. 27:1504-1510
We evaluated the prognostic relevance of several clinical and laboratory parameters in 226 Mayo Clinic patients with chronic myelomonocytic leukemia (CMML): 152 (67%) males and median age 71 years. At a median follow-up of 15 months, 166 (73%) deaths
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4565a4bcbdf709656261d1e02d189d3
https://doi.org/10.1038/leu.2013.88
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5
Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation
Autor: J L, Hand, V V, Michels, M J, Marinello, R P, Ketterling, S M, Jalal
Publikováno v: Prenatal diagnosis. 20(2)
We describe two families in which an inherited interstitial deletion is present without apparent associated phenotypic abnormalities. The first deletion was discovered in a 19-year-old male with a previously diagnosed peroxisomal disorder. High-resol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b7e6eb8480401f18ac0f59f6ed1a2217
https://pubmed.ncbi.nlm.nih.gov/10694687
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6
Haemophilia B Brandenberg-type promoter mutation
Autor: J A, Heit, R P, Ketterling, R E, Zapata, S M, Ordonez, C K, Kasper, S S, Sommer
Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 5(1)
We report the second confirmed case of the haemophilia B 'Brandenberg' phenotype. At the time of testing, patient HB530 was a 17-year-old post-puberty male with a persistent, clinically severe bleeding disorder and markedly reduced plasma procoagulan
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0b7fd39af0258b5a81012cd0a86c77a7
https://pubmed.ncbi.nlm.nih.gov/10215951
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7
Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations
Autor: R P, Ketterling, J B, Drost, W A, Scaringe, D Z, Liao, J Z, Liu, C K, Kasper, S S, Sommer
Publikováno v: Human mutation. 13(3)
Small consensus sequences have been defined for RNA splicing, but questions about splicing in humans remain unanswered. Analysis of germline mutations in the factor IX gene offers a highly advantageous system for studying the mutational process in hu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8ee0e9e26bed814258d329f40c4c0e89
https://pubmed.ncbi.nlm.nih.gov/10090477
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8
Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
Autor: J A, Heit, E C, Thorland, R P, Ketterling, T J, Lind, T M, Daniels, R E, Zapata, S M, Ordonez, C K, Kasper, S S, Sommer
Publikováno v: Human mutation. 11(5)
Exogenous (e.g., environmental) mutagens produce characteristic patterns of mutation. In contrast, endogenous mutation processes likely are associated with an invariant pattern of mutation. Analysis of factor IX gene mutations among large samples of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0b86766d8e3763aaebb6e16db9d3a802
https://pubmed.ncbi.nlm.nih.gov/9600455
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9
Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects
Autor: E C, Thorland, B G, Weinshenker, J Z, Liu, R P, Ketterling, E L, Vielhaber, C K, Kasper, R, Ambriz, R, Paredes, S S, Sommer
Publikováno v: Thrombosis and haemostasis. 74(6)
Germline mutations in patients with hemophilia B generally have arisen within the past 150 years. Evidence suggests that these germline mutations generally result from endogenous processes. However, a unique pattern would be expected if a population
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e11d8714890d611bc827ef47117aeda4
https://pubmed.ncbi.nlm.nih.gov/8772212
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10
The rates of G:C--T:A and G:C--C:G transversions at CpG dinucleotides in the human factor IX gene
Autor: R P, Ketterling, E, Vielhaber, S S, Sommer
Publikováno v: American journal of human genetics. 54(5)
We have identified eight independent transversions at CpG in 290 consecutive families with hemophilia B. These eight transversions account for 16.3% of all independent transversions in our sample, yet the expected frequency of CpG transversions at ra
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a8faae88d8a8196583b1d0628f1a1dfb
https://pubmed.ncbi.nlm.nih.gov/8178822
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