Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
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Nijmegen breakage syndrome (NBS)Heterozygous carriers of Nijmegen Breakage Syndrome have a distinct gene expression phenotypeClinical significance of increased expression of Nijmegen breakage syndrome gene (NBS1) in human primary liver cancerThe role of NBS1 in DNA double strand break repair, telomere stability, and cell cycle checkpoint controlMutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.Hereditary breast-ovarian cancer syndrome in Russia.The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?An inherited NBN mutation is associated with poor prognosis prostate cancerClinical relevance of CHEK2 and NBN mutations in the macedonian populationNBS1 Heterozygosity and Cancer Risk.DNA damage responses in Drosophila nbs mutants with reduced or altered NBS function.rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer riskNewborn screening for primary immunodeficiencies: beyond SCID and XLA.Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidantsNijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family.Biomarkers for genome instability in some genetic disorders: a pilot study.Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.Heterozygous carriers of germline c.657_661del5 founder mutation in NBN gene are at risk of central nervous system relapse of B-cell precursor acute lymphoblastic leukemia.Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome.Clinical characteristics of breast cancer in patients with an NBS1 mutation.Germline mutations 657del5 and 643C>T (R215W) in NBN are not likely to be associated with increased risk of breast cancer in Czech women.Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin.
P2860
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P2860
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Clinical ascertainment of Nijm ...... l5, in three Slav populations.
@en
type
label
Clinical ascertainment of Nijm ...... l5, in three Slav populations.
@en
prefLabel
Clinical ascertainment of Nijm ...... l5, in three Slav populations.
@en
P2093
P356
P1476
Clinical ascertainment of Nijm ...... l5, in three Slav populations.
@en
P2093
Chrzanowska K
Hnateyko O
Krajewska-Walasek M
Piekutowska-Abramczuk D
Seemanova E
Sperling K
Sykut-Cegielska J
P2888
P304
P356
10.1038/SJ.EJHG.5200554
P50
P577
2000-11-01T00:00:00Z
P5875
P6179
1010853709