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Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 558, doi. 10.1002/gcc.20665
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- Publication type:
- Article
Supratentorial primitive neuroectodermal tumors of the central nervous system frequently harbor deletions of the CDKN2A locus and other genomic aberrations distinct from medulloblastomas.
- Published in:
- Genes, Chromosomes & Cancer, 2007, v. 46, n. 9, p. 839, doi. 10.1002/gcc.20471
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- Publication type:
- Article
Primary Chondrosarcoma of the Kidney.
- Published in:
- Urologia Internationalis, 2009, v. 83, n. 1, p. 116, doi. 10.1159/000224880
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- Publication type:
- Article
Recommendations for diagnosis and treatment of methemoglobinemia.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 12, p. 1666, doi. 10.1002/ajh.26340
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- Publication type:
- Article
PTEN abnormalities predict poor outcome in children with T‐cell acute lymphoblastic leukemia treated according to ALL IC‐BFM protocols.
- Published in:
- American Journal of Hematology, 2019, v. 94, n. 4, p. E93, doi. 10.1002/ajh.25396
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- Publication type:
- Article
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing.
- Published in:
- Human Genetics, 2004, v. 114, n. 6, p. 541, doi. 10.1007/s00439-004-1114-x
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- Publication type:
- Article
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 249, doi. 10.1007/s00439-002-0901-5
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- Publication type:
- Article
Profiling and functional annotation of mRNA gene expression in pediatric rhabdomyosarcoma and Ewing's sarcoma.
- Published in:
- International Journal of Cancer, 2004, v. 110, n. 5, p. 687, doi. 10.1002/ijc.20171
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- Publication type:
- Article
Histone deacetylase inhibition sensitizes osteosarcoma to heavy ion radiotherapy.
- Published in:
- Radiation Oncology, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13014-015-0455-z
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- Publication type:
- Article
Histone deacetylase inhibition sensitizes osteosarcoma to heavy ion radiotherapy.
- Published in:
- Radiation Oncology, 2015, v. 10, n. 1, p. 146, doi. 10.1186/s13014-015-0455-z
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- Publication type:
- Article
Treatment of pediatric patients and young adults with particle therapy at the Heidelberg Ion Therapy Center (HIT): establishment of workflow and initial clinical data.
- Published in:
- Radiation Oncology, 2012, v. 7, n. 1, p. 170, doi. 10.1186/1748-717X-7-170
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- Publication type:
- Article
Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.
- Published in:
- Nature Communications, 2015, v. 6, n. 12, p. 8940, doi. 10.1038/ncomms9940
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- Publication type:
- Article
Improved binding site assignment by high-resolution mapping of RNA-protein interactions using iCLIP.
- Published in:
- Nature Communications, 2015, v. 6, n. 8, p. 7921, doi. 10.1038/ncomms8921
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- Publication type:
- Article
Intracardiac Extension of Wilms Tumor: A Case of a 2.5-Year-Old Girl Presenting with Upper Venous Congestion Caused by Tumor Growth into the Right Cardiac Ventricle.
- Published in:
- Case Reports in Oncology, 2019, v. 12, n. 1, p. 33, doi. 10.1159/000496020
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- Publication type:
- Article
3′ End Processing of the Prothrombin mRNA in Thrombophilia.
- Published in:
- Acta Haematologica, 2006, v. 115, n. 3/4, p. 192, doi. 10.1159/000090934
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- Publication type:
- Article
Binary specification of nonsense codons by splicing and cytoplasmic translation.
- Published in:
- EMBO Journal, 1998, v. 17, n. 12, p. 3484, doi. 10.1093/emboj/17.12.3484
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- Publication type:
- Article
(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5234, doi. 10.3390/ijms21155234
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- Publication type:
- Article
HD-MB03 is a novel Group 3 medulloblastoma model demonstrating sensitivity to histone deacetylase inhibitor treatment.
- Published in:
- Journal of Neuro-Oncology, 2012, v. 110, n. 3, p. 335, doi. 10.1007/s11060-012-0978-1
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- Publication type:
- Article
Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany.
- Published in:
- Pediatric Pulmonology, 2015, v. 50, n. 7, p. 655, doi. 10.1002/ppul.23190
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- Publication type:
- Article
Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 5, p. 669, doi. 10.1007/s00401-015-1405-4
- By:
- Publication type:
- Article
MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma.
- Published in:
- Acta Neuropathologica, 2012, v. 123, n. 4, p. 529, doi. 10.1007/s00401-011-0924-x
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- Publication type:
- Article
Biological and clinical heterogeneity of MYCN-amplified medulloblastoma.
- Published in:
- Acta Neuropathologica, 2012, v. 123, n. 4, p. 515, doi. 10.1007/s00401-011-0918-8
- By:
- Publication type:
- Article
A novel human high-risk ependymoma stem cell model reveals the differentiation-inducing potential of the histone deacetylase inhibitor Vorinostat.
- Published in:
- Acta Neuropathologica, 2011, v. 122, n. 5, p. 637, doi. 10.1007/s00401-011-0866-3
- By:
- Publication type:
- Article
Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.
- Published in:
- Acta Neuropathologica, 2011, v. 121, n. 6, p. 763, doi. 10.1007/s00401-011-0817-z
- By:
- Publication type:
- Article
Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes.
- Published in:
- Acta Neuropathologica, 2010, v. 120, n. 2, p. 253, doi. 10.1007/s00401-010-0688-8
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- Publication type:
- Article
Targeting class I histone deacetylase 2 in MYC amplified group 3 medulloblastoma.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 121, doi. 10.1186/s40478-015-0201-7
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- Publication type:
- Article
5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1593, doi. 10.15252/emmm.201404461
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- Publication type:
- Article
The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1156, doi. 10.1038/sj.ejhg.5201889
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- Publication type:
- Article
Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2023, v. 42, p. 1, doi. 10.1186/s13046-022-02585-x
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- Publication type:
- Article
Nonsense-mediated decay approaches the clinic.
- Published in:
- Nature Genetics, 2004, v. 36, n. 8, p. 801, doi. 10.1038/ng1403
- By:
- Publication type:
- Article
MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Elevated expression of c-kit in small venous malformations of blue rubber bleb nevus syndrome.
- Published in:
- Rare Tumors, 2010, v. 2, n. 2, p. 99, doi. 10.4081/rt.2010.e36
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- Publication type:
- Article
Elevated expression of c-kit in small venous malformations of blue rubber belb nevus syndrome.
- Published in:
- Rare Tumors, 2010, v. 2, n. 1, p. 99, doi. 10.4081/rt.2010.e36
- By:
- Publication type:
- Article
Treatment of adult ALL patients with third-generation CD19-directed CAR T cells: results of a pivotal trial.
- Published in:
- Journal of Hematology & Oncology, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13045-023-01470-0
- By:
- Publication type:
- Article
AN UNEXPECTEDLY HIGH FREQUENCY OF HYPERGALACTOSEMIA IN AN IMMIGRANT BOSNIAN POPULATION REVEALED BY NEWBORN SCREENING.
- Published in:
- Pedijatrija Danas: Pediatrics Today, 2006, v. 2, n. 1, p. 112
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- Publication type:
- Article
A 15q24 microdeletion in transient myeloproliferative disease ( TMD) and acute megakaryoblastic leukaemia ( AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/ AMKL.
- Published in:
- British Journal of Haematology, 2012, v. 157, n. 2, p. 180, doi. 10.1111/j.1365-2141.2012.09028.x
- By:
- Publication type:
- Article
Impact of pre-analytical handling on bone marrow mRNA gene expression.
- Published in:
- British Journal of Haematology, 2004, v. 126, n. 2, p. 231, doi. 10.1111/j.1365-2141.2004.05017.x
- By:
- Publication type:
- Article
Role of MRI in the management of patients with nephroblastoma.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Treatment tolerance of particle therapy in pediatric patients.
- Published in:
- Acta Oncologica, 2015, v. 54, n. 7, p. 1049, doi. 10.3109/0284186X.2014.998273
- By:
- Publication type:
- Article
mRNA 3′end processing: A tale of the tail reaches the clinic.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 1, p. 16, doi. 10.1002/emmm.201303300
- By:
- Publication type:
- Article
Nonsense-Mediated mRNA Decay and Loss-of-Function of the Protein Underlie the X-Linked Epilepsy Associated with the W356× Mutation in Synapsin I.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067724
- By:
- Publication type:
- Article
Expression of CD56 defines a distinct subgroup in childhood T‐ALL with inferior outcome. Results of the ALL‐BFM 2000 trial.
- Published in:
- British Journal of Haematology, 2018, v. 183, n. 1, p. 96, doi. 10.1111/bjh.15503
- By:
- Publication type:
- Article
Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG- MDS study group.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 6, p. 930, doi. 10.1111/bjh.13915
- By:
- Publication type:
- Article
Haemoglobin Variant Screening in Jamaica: Meeting Student's Request.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 4, p. 634, doi. 10.1111/bjh.13531
- By:
- Publication type:
- Article
Outcomes of treatment for relapsed acute lymphoblastic leukaemia in children with Down syndrome.
- Published in:
- British Journal of Haematology, 2013, v. 162, n. 1, p. 98, doi. 10.1111/bjh.12348
- By:
- Publication type:
- Article
The epidemiology of sickle cell disease in Germany following recent large-scale immigration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Childhood acute lymphoblastic leukemia in the Middle East and neighboring countries: A prospective multi-institutional international collaborative study (CALLME1) by the Middle East Childhood Cancer Alliance (MECCA)
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Childhood acute lymphoblastic leukemia in the Middle East and neighboring countries: A prospective multi-institutional international collaborative study (CALLME1) by the Middle East Childhood Cancer Alliance (MECCA).
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 8, p. 1403, doi. 10.1002/pbc.25031
- By:
- Publication type:
- Article
Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 389, doi. 10.1038/ng578
- By:
- Publication type:
- Article