Found: 43
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RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2024, v. 209, n. 10, p. 1266, doi. 10.1164/rccm.202311-2163LE
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- Publication type:
- Article
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
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- Journal of Hematology & Oncology, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13045-024-01547-4
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- Publication type:
- Article
Significance of fusion status, Oberlin risk factors, local and maintenance treatment in pediatric and adolescent patients with metastatic rhabdomyosarcoma: Data of the European Soft Tissue Sarcoma Registry SoTiSaR.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 1, p. 1, doi. 10.1002/pbc.30707
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- Article
Willingness of individuals with Li-Fraumeni syndrome to participate in a cancer prevention trial: a survey study.
- Published in:
- Familial Cancer, 2023, v. 22, n. 4, p. 495, doi. 10.1007/s10689-023-00339-y
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- Publication type:
- Article
Second‐line treatment of pediatric patients with relapsed rhabdomyosarcoma adapted to initial risk stratification: Data of the European Soft Tissue Sarcoma Registry (SoTiSaR).
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- Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30363
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- Publication type:
- Article
Reply to Li and Colleagues.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 6, p. 760, doi. 10.1093/jnci/djad057
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- Publication type:
- Article
Comments on "The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients".
- Published in:
- International Journal of Cancer, 2023, v. 152, n. 9, p. 2011, doi. 10.1002/ijc.34432
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- Publication type:
- Article
Molecular complete remission following combination treatment of daratumumab and venetoclax in an adolescent with relapsed mixed phenotype acute leukemia.
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- Annals of Hematology, 2023, v. 102, n. 3, p. 669, doi. 10.1007/s00277-023-05083-y
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- Publication type:
- Article
Reply to Evans and Woodward.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 2, p. 231, doi. 10.1093/jnci/djac224
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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
Cancer incidence and surveillance strategies in individuals with RASopathies.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 530, doi. 10.1002/ajmg.c.32018
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- Publication type:
- Article
Heterozygous BRCA1 and BRCA2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents With Cancer.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2022, v. 114, n. 11, p. 1523, doi. 10.1093/jnci/djac151
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- Publication type:
- Article
Health Behavior and Cancer Prevention among Adults with Li-Fraumeni Syndrome and Relatives in Germany—A Cohort Description.
- Published in:
- Current Oncology, 2022, v. 29, n. 10, p. 7768, doi. 10.3390/curroncol29100614
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- Publication type:
- Article
Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice.
- Published in:
- Cancers, 2022, v. 14, n. 13, p. N.PAG, doi. 10.3390/cancers14133083
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- Publication type:
- Article
Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study.
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- Cancer Medicine, 2021, v. 10, n. 21, p. 7747, doi. 10.1002/cam4.4300
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- Publication type:
- Article
Genetic Variation in ABCC4 and CFTR and Acute Pancreatitis during Treatment of Pediatric Acute Lymphoblastic Leukemia.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4815, doi. 10.3390/jcm10214815
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- Publication type:
- Article
Effective identification of cancer predisposition syndromes in children with cancer employing a questionnaire.
- Published in:
- Familial Cancer, 2021, v. 20, n. 4, p. 257, doi. 10.1007/s10689-021-00233-5
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- Publication type:
- Article
Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.
- Published in:
- Familial Cancer, 2021, v. 20, n. 4, p. 289, doi. 10.1007/s10689-021-00228-2
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- Publication type:
- Article
Correction to: Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria.
- Published in:
- Cancers, 2021, v. 13, n. 8, p. 1876, doi. 10.3390/cancers13081876
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- Publication type:
- Article
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 1, p. 85, doi. 10.1007/s00401-020-02243-6
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- Publication type:
- Article
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
- Published in:
- 2020
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- Publication type:
- journal article
Age-Dependent Presentation and Clinical Course of 1465 Patients Aged 0 to Less than 18 Years with Ovarian or Testicular Germ Cell Tumors; Data of the MAKEI 96 Protocol Revisited in the Light of Prenatal Germ Cell Biology.
- Published in:
- Cancers, 2020, v. 12, n. 3, p. 611, doi. 10.3390/cancers12030611
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- Publication type:
- Article
MYCN amplification drives an aggressive form of spinal ependymoma.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 6, p. 1075, doi. 10.1007/s00401-019-02056-2
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- Publication type:
- Article
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 649, doi. 10.1002/humu.23721
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- Article
Familial testicular germ cell tumor: no associated syndromic pattern identified.
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- Hereditary Cancer in Clinical Practice, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1897-4287-12-3
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- Publication type:
- Article
Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.
- Published in:
- 2013
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- Publication type:
- journal article
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2748, doi. 10.1093/hmg/ddt109
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- Publication type:
- Article
The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia.
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- Human Mutation, 2013, v. 34, n. 6, p. 905, doi. 10.1002/humu.22308
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- Publication type:
- Article
Meta-analysis identifies four new loci associated with testicular germ cell tumor.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 680, doi. 10.1038/ng.2634
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- Article
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
- Published in:
- British Journal of Haematology, 2013, v. 160, n. 4, p. 547, doi. 10.1111/bjh.12167
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- Publication type:
- Article
Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation.
- Published in:
- 2011
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- Publication type:
- journal article
MYH9-related disease: Report on five German families and description of a novel mutation.
- Published in:
- 2010
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- Publication type:
- letter
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
- Published in:
- 2010
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- Publication type:
- journal article
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 722, doi. 10.1002/pbc.22574
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- Publication type:
- Article
A restricted spectrum of NRAS mutations causes Noonan syndrome.
- Published in:
- Nature Genetics, 2010, v. 42, n. 1, p. 27, doi. 10.1038/ng.497
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- Publication type:
- Article
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2781, doi. 10.1093/hmg/ddm230
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- Article
Essential versus reactive thrombocythemia in children: Retrospective analyses of 12 cases.
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- Pediatric Blood & Cancer, 2007, v. 49, n. 1, p. 52, doi. 10.1002/pbc.21128
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- Publication type:
- Article
An unexpected new role of mutant Ras: perturbation of human embryonic development.
- Published in:
- Journal of Molecular Medicine, 2007, v. 85, n. 3, p. 223, doi. 10.1007/s00109-006-0135-4
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- Publication type:
- Article
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 4, p. 374, doi. 10.1093/hmg/ddl458
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- Publication type:
- Article
Corrigendum: Germline KRAS mutations cause Noonan syndrome.
- Published in:
- 2006
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- Publication type:
- Correction notice
Germline KRAS mutations cause Noonan syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 331, doi. 10.1038/ng1748
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- Publication type:
- Article
MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia.
- Published in:
- Oncogene, 2002, v. 21, n. 31, p. 4849, doi. 10.1038/sj.onc.1205615
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- Publication type:
- Article