Found: 30
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Myeloid neoplasms with germline DDX41 mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1183318
- By:
- Publication type:
- Article
Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1872, doi. 10.1002/ajmg.a.37075
- By:
- Publication type:
- Article
A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
- Published in:
- British Journal of Haematology, 2020, v. 190, n. 5, p. e297, doi. 10.1111/bjh.16819
- By:
- Publication type:
- Article
Apparent ' JAK2-negative' polycythaemia vera due to compound mutations in exon 14.
- Published in:
- British Journal of Haematology, 2017, v. 178, n. 2, p. 333, doi. 10.1111/bjh.14126
- By:
- Publication type:
- Article
Spliceosome mutations in hematopoietic malignancies.
- Published in:
- Nature Genetics, 2012, v. 44, n. 1, p. 9, doi. 10.1038/ng.1045
- By:
- Publication type:
- Article
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 1012, doi. 10.1038/ng.913
- By:
- Publication type:
- Article
ARMC5 Mutations Are Common in Familial Bilateral Macronodular Adrenal Hyperplasia.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0103-x
- By:
- Publication type:
- Article
Effect of Disrupted SOX18 Transcription Factor Function on Tumor Growth, Vascularization, and Endothelial Development.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 15, p. 1060, doi. 10.1093/jnci/djj299
- By:
- Publication type:
- Article
Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0971-z
- By:
- Publication type:
- Article
Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy.
- Published in:
- Immunological Reviews, 2015, v. 263, n. 1, p. 257, doi. 10.1111/imr.12241
- By:
- Publication type:
- Article
GATA2 is required for lymphatic vessel valve development and maintenance.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 2979, doi. 10.1172/JCI78888
- By:
- Publication type:
- Article
Phenoxodiol, an experimental anticancer drug, shows potent antiangiogenic properties in addition to its antitumour effects.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 10, p. 2412, doi. 10.1002/ijc.21682
- By:
- Publication type:
- Article
TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00821-x
- By:
- Publication type:
- Article
TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms.
- Published in:
- Blood Cancer Journal, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41408-023-00821-x
- By:
- Publication type:
- Article
Spatiotemporal Regulation of Multiple Overlapping Sense and Novel Natural Antisense Transcripts at the Nrgn and Camk2n1 Gene Loci during Mouse Cerebral Corticogenesis.
- Published in:
- Cerebral Cortex, 2011, v. 21, n. 3, p. 683, doi. 10.1093/cercor/bhq141
- By:
- Publication type:
- Article
The 10<sup>th</sup> Barossa meeting: Cell Signalling to Cancer Medicine.
- Published in:
- Cell Death & Disease, 2024, v. 15, n. 3, p. 1, doi. 10.1038/s41419-024-06614-9
- By:
- Publication type:
- Article
Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.
- Published in:
- Current Hematologic Malignancy Reports, 2022, v. 17, n. 6, p. 254, doi. 10.1007/s11899-022-00676-2
- By:
- Publication type:
- Article
Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics.
- Published in:
- Scientific Reports, 2015, p. 10940, doi. 10.1038/srep10940
- By:
- Publication type:
- Article
Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Cover, Volume 42, Issue 11.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. i, doi. 10.1002/humu.24288
- By:
- Publication type:
- Article
GATA2 deficiency syndrome: A decade of discovery.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. 1399, doi. 10.1002/humu.24271
- By:
- Publication type:
- Article
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 955, doi. 10.1002/humu.23032
- By:
- Publication type:
- Article
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
- Published in:
- Science Translational Medicine, 2022, v. 14, n. 634, p. 1, doi. 10.1126/scitranslmed.abm4869
- By:
- Publication type:
- Article
Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.
- Published in:
- BMC Genomics, 2011, v. 12, p. 1, doi. 10.1186/1471-2164-12-176
- By:
- Publication type:
- Article
Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.
- Published in:
- BMC Genomics, 2011, v. 12, n. 1, p. 176, doi. 10.1186/1471-2164-12-176
- By:
- Publication type:
- Article
Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 11, p. 1787, doi. 10.1093/hmg/7.11.1787
- By:
- Publication type:
- Article
Generalized CNS Disease and Massive GM1-Ganglioside Accumulation in Mice Defective in Lysosomal Acid β-galactosidase.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 205, doi. 10.1093/hmg/6.2.205
- By:
- Publication type:
- Article