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Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis-An entity different from adults.
- Published in:
- American Journal of Hematology, 2012, v. 87, n. 5, p. 461, doi. 10.1002/ajh.23140
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- Article
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 1, p. 1, doi. 10.1101/mcs.a005454
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- Article
Standardized high‐sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.
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- Cytometry. Part B, 2018, v. 94, n. 4, p. 699, doi. 10.1002/cyto.b.21536
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- Article
Consider the workhorse: Nonhomologous end-joining in budding yeast<sup>1</sup>.
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- Biochemistry & Cell Biology, 2016, v. 94, n. 5, p. 396, doi. 10.1139/bcb-2016-0001
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- Article
An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control.
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- BMC Genomics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2164-13-664
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- Article
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia.
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- Human Molecular Genetics, 2005, v. 14, n. 23, p. 3723, doi. 10.1093/hmg/ddi403
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- Article
Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae.
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- Genetics, 2018, v. 209, n. 1, p. 115, doi. 10.1534/genetics.117.300672
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- Article
The Principal Role of Ku in Telomere Length Maintenance Is Promotion of Est1 Association with Telomeres.
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- Genetics, 2014, v. 197, n. 4, p. 1123, doi. 10.1534/genetics.114.164707
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- Publication type:
- Article
Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae.
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- G3: Genes | Genomes | Genetics, 2015, v. 5, n. 7, p. 1379, doi. 10.1534/g3.115.018721
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- Article
Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
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- 2016
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- Publication type:
- journal article
Ku Must Load Directly onto the Chromosome End in Order to Mediate Its Telemetric Functions.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 8, p. 1, doi. 10.1371/journal.pgen.1002233
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- Article
Segregating YKU80 and TLC1 Alleles Underlying Natural Variation in Telomere Properties in Wild Yeast.
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- PLoS Genetics, 2009, v. 5, n. 9, p. 1, doi. 10.1371/journal.pgen.1000659
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- Article
Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 4, p. 301, doi. 10.1038/nsmb1214
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- Article
Germline mutations in shelterin complex genes are associated with familial glioma.
- Published in:
- 2015
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- Publication type:
- journal article
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma.
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- JNCI: Journal of the National Cancer Institute, 2014, v. 107, n. 1, p. 1, doi. 10.1093/jnci/dju384
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- Article
Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy.
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- Journal of Clinical Immunology, 2014, v. 34, n. 7, p. 871, doi. 10.1007/s10875-014-0074-8
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- Publication type:
- Article
Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-46840-2
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- Article
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21588-4
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- Article
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium.
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- 2020
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- Publication type:
- journal article
Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.
- Published in:
- 2019
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- Publication type:
- journal article
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.
- Published in:
- 2019
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- Publication type:
- journal article
Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.
- Published in:
- 2016
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- Publication type:
- journal article
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): An initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC).
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 5, p. 869, doi. 10.1002/pbc.24875
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- Publication type:
- Article
Hematopoiesis under telomere attrition at the single-cell resolution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27206-7
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- Publication type:
- Article
Hematopoiesis under telomere attrition at the single-cell resolution.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27206-7
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- Publication type:
- Article
Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3).
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- Pediatric Blood & Cancer, 2010, v. 54, n. 7, p. 1041, doi. 10.1002/pbc.22437
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- Article
Infantile fibrosarcoma: Clinical and histologic responses to cytotoxic chemotherapy.
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- Pediatric Blood & Cancer, 2009, v. 53, n. 1, p. 23, doi. 10.1002/pbc.21981
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- Publication type:
- Article
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-64
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- Article
Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia.
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- Human Mutation, 2020, v. 41, n. 11, p. 1918, doi. 10.1002/humu.24092
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- Article
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
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- Human Mutation, 2019, v. 40, n. 12, p. 2414, doi. 10.1002/humu.23898
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- Article
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM‐associated syndromes.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1826, doi. 10.1002/ajmg.a.63208
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- Article
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2204, doi. 10.1002/ajmg.a.62749
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- Article
Expansion of the clinical phenotype of GALE deficiency.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3118, doi. 10.1002/ajmg.a.62384
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- Article
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2781, doi. 10.1002/ajmg.a.61851
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- Article
The Association of yKu With Subtelomeric Core X Sequences Prevents Recombination Involving Telomeric Sequences.
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- Genetics, 2009, v. 183, n. 2, p. 453, doi. 10.1534/genetics.109.106682
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- Article
EXO1 Contributes to Telomere Maintenance in Both Telomerase-Proficient and Telomerase-Deficient Saccharomyces cervisiae.
- Published in:
- Genetics, 2004, v. 166, n. 4, p. 1651, doi. 10.1534/genetics.166.4.1651
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- Article