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Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature.
Yamamoto N, Okazaki S, Kuki I, Yamada N, Nagase S, Nukui M, Inoue T, Kawakita R, Yorifuji T, Hoshina T, Seto T, Yamamoto T, Kawawaki H. Yamamoto N, et al. Epileptic Disord. 2022 Jun 1;24(3):567-571. doi: 10.1684/epd.2022.1416. Epileptic Disord. 2022. PMID: 35653098 Review. English.
17p13.1-2 microdeletion syndrome is a congenital anomaly syndrome with characteristic facial features and multiple malformations. ...We experienced two cases of 17p13.1-2 microdeletion syndrome, one of which presented with epilepti
17p13.1-2 microdeletion syndrome is a congenital anomaly syndrome with characteristic facial features and multip
Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.
Stubbins RJ, Korotev S, Godley LA. Stubbins RJ, et al. Curr Hematol Malig Rep. 2022 Aug;17(4):94-104. doi: 10.1007/s11899-022-00663-7. Epub 2022 Jun 8. Curr Hematol Malig Rep. 2022. PMID: 35674998 Review.
Germline CHEK2 variants predispose to a range of myeloid malignancies, most prominently myeloproliferative neoplasms and myelodysplastic syndromes (odds ratio range: 2.1-12.3), and chronic lymphocytic leukemia (odds ratio 14.83). ...Peripheral blood shows a small populatio …
Germline CHEK2 variants predispose to a range of myeloid malignancies, most prominently myeloproliferative neoplasms and myelodysplastic …
[Chromosome arm 17p13.3: could HIC1 be the one ?].
Chopin V, Leprince D. Chopin V, et al. Med Sci (Paris). 2006 Jan;22(1):54-61. doi: 10.1051/medsci/200622154. Med Sci (Paris). 2006. PMID: 16386221 Free article. Review. French.
Loss of heterozygosity (LOH) of the short arm of chromosome 17 (17p) is one of the most frequent genetic alterations in human cancers. Most often, allelic losses coincide with p53 mutations at 17p13.1. ...In addition, the 17p13.3 region has also been implicat …
Loss of heterozygosity (LOH) of the short arm of chromosome 17 (17p) is one of the most frequent genetic alterations in human cancers …
[Genetic alterations and molecular mechanisms underlying colorectal tumorigenesis].
Ronchetto F. Ronchetto F. Minerva Med. 1998 May;89(5):163-8. Minerva Med. 1998. PMID: 9676181 Review. Italian.
In the multistep process leading to colorectal carcinoma, the adenoma-carcinoma sequence is characterized by progressive accumulation of genetic abnormalities (K-ras oncogene mutation, allelic deletion on chromosome 5q, 18q, 17p). ...The p53 tumor-suppressor …
In the multistep process leading to colorectal carcinoma, the adenoma-carcinoma sequence is characterized by progressive accumulation …