Zobrazeno 1 - 10
of 23
pro vyhledávání: '"K M, Shannon"'
Autor:
S, Luna-Fineman, K M, Shannon, S K, Atwater, J, Davis, M, Masterson, J, Ortega, J, Sanders, P, Steinherz, V, Weinberg, B J, Lange
Publikováno v:
Blood. 93:459-466
Myelodysplastic syndromes (MDS) and myeloproliferative syndromes (MPS) of childhood are a heterogeneous group of clonal disorders of hematopoiesis with overlapping clinical features and inconsistent nomenclature. Although a number of genetic conditio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ed6af40666cd32204c1684f88f83f5
https://doi.org/10.1182/blood.v93.2.459.402k19_459_466
https://doi.org/10.1182/blood.v93.2.459.402k19_459_466
Autor:
S B, Lee, S H, Kim, D W, Bell, D C, Wahrer, T A, Schiripo, M M, Jorczak, D C, Sgroi, J E, Garber, F P, Li, K E, Nichols, J M, Varley, A K, Godwin, K M, Shannon, E, Harlow, D A, Haber
Publikováno v:
Cancer research. 61(22)
Li Fraumeni Syndrome (LFS) is a multicancer phenotype, most commonly associated with germ-line mutations in TP53. In a kindred with LFS without an inherited TP53 mutation, we have previously reported a truncating mutation (1100delC) in CHK2, encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ceac849ec1041031c769751b3d31c178
https://pubmed.ncbi.nlm.nih.gov/11719428
https://pubmed.ncbi.nlm.nih.gov/11719428
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 15(6)
The prototypic motor feature of Huntington's disease (HD) is chorea, but parkinsonism and involuntary movements such as dystonia and myoclonus can also be present. Pallidotomy has been shown to be an effective treatment for medically refractory Parki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2629dfa8d0ee673c1b9ab837d6fdeb8d
https://pubmed.ncbi.nlm.nih.gov/11104214
https://pubmed.ncbi.nlm.nih.gov/11104214
In vitro and in vivo effects of a farnesyltransferase inhibitor on Nf1-deficient hematopoietic cells
Publikováno v:
Blood. 94(7)
Oncogenic RAS alleles encode proteins that accumulate in the guanosine triphosphate (GTP)-bound state. Because post-translational processing of Ras by farnesyltransferase is essential for biologic function, inhibitors of this enzyme have been develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05b51fabaf4945cacd25e93337c54230
https://pubmed.ncbi.nlm.nih.gov/10498620
https://pubmed.ncbi.nlm.nih.gov/10498620
Autor:
N, Mahgoub, B R, Taylor, M M, Le Beau, M, Gratiot, K M, Carlson, S K, Atwater, T, Jacks, K M, Shannon
Publikováno v:
Blood. 93(11)
Therapy-related acute myeloid leukemia and myelodysplastic syndrome (t-AML and MDS) are severe late complications of treatment with genotoxic chemotherapeutic agents. Children with neurofibromatosis type 1 (NF1) are predisposed to malignant myeloid d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::07496f63471b344ccc5c53007ca2e59f
https://pubmed.ncbi.nlm.nih.gov/10339466
https://pubmed.ncbi.nlm.nih.gov/10339466
Publikováno v:
Blood. 92(1)
Juvenile myelomonocytic leukemia (JMML) is a pediatric myelodysplastic syndrome that is associated with neurofibromatosis, type 1 (NF1). The NF1 tumor suppressor gene encodes neurofibromin, which regulates the growth of immature myeloid cells by acce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::48768bab252a868135010b45fe25e013
https://pubmed.ncbi.nlm.nih.gov/9639526
https://pubmed.ncbi.nlm.nih.gov/9639526
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 13(3)
Patients with truncal extension dystonia, manifested by involuntary back arching, often associated with pain and severe motor disability, have not consistently responded to pharmacologic agents. We evaluated 4 women and 1 man (mean age, 41.8 years; d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54e9631d4741ace5c64c10672b2b834d
https://pubmed.ncbi.nlm.nih.gov/9613753
https://pubmed.ncbi.nlm.nih.gov/9613753
Autor:
N, Mahgoub, R I, Parker, M R, Hosler, P, Close, N J, Winick, M, Masterson, K M, Shannon, C A, Felix
Publikováno v:
Genes, chromosomescancer. 21(3)
Translocations of the MLL gene at chromosome band 11q23 are the most common cytogenetic alterations in de novo leukemia in infants and in leukemia related to chemotherapy with DNA topoisomerase II inhibitors. Experiments on knock-in mice suggest that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e9c03c5e5194d79740dcde010e763c32
https://pubmed.ncbi.nlm.nih.gov/9523205
https://pubmed.ncbi.nlm.nih.gov/9523205
Publikováno v:
Neurology. 49(3)
A total of 335 patients with early Parkinson's disease (PD) were enrolled in a multicenter, randomized, double-blind trial designed to assess the efficacy and safety of pramipexole. Entry was restricted to patients with idiopathic PD who were not rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::352b18d7921f36f7b7aff35c48caa3f6
https://pubmed.ncbi.nlm.nih.gov/9305331
https://pubmed.ncbi.nlm.nih.gov/9305331
Publikováno v:
Southern medical journal. 90(5)
We report the treatment experience in a series of patients with involuntary tongue protrusion resulting from oromandibular dystonia (OMD) or Meige's syndrome. A retrospective analysis of clinical findings and results of treatment was conducted on pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94afac7073a59e563fe8ce2ccfadd247
https://pubmed.ncbi.nlm.nih.gov/9160072
https://pubmed.ncbi.nlm.nih.gov/9160072