Found: 37
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An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case report.
- Published in:
- Diagnostic Cytopathology, 2017, v. 45, n. 7, p. 634, doi. 10.1002/dc.23700
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- Publication type:
- Article
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2791, doi. 10.1002/ajmg.a.40492
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- Publication type:
- Article
Cleft Palate in a Patient with the Nested 22q11.2 LCR C to D Deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 260, doi. 10.1002/ajmg.a.37408
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- Publication type:
- Article
Partial trisomy 21: A fifty-year follow-up visit.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1610, doi. 10.1002/ajmg.a.37031
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- Publication type:
- Article
Sex-discordant monochorionic twins with blood and tissue chimerism.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 872, doi. 10.1002/ajmg.a.37022
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- Publication type:
- Article
In vivo regulation of the heme oxygenase-1 gene in humanized transgenic mice.
- Published in:
- Kidney International, 2012, v. 82, n. 3, p. 278, doi. 10.1038/ki.2012.102
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- Publication type:
- Article
Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1243, doi. 10.1038/ng.469
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- Publication type:
- Article
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2024, v. 63, n. 1, p. 1, doi. 10.1002/gcc.23195
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- Publication type:
- Article
Predictor(s) of Abnormal Array Comparative Genomic Hybridization Results in Patients With Cleft Lip and/or Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 6, p. 724, doi. 10.1597/14-088
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- Publication type:
- Article
Array comparative genomic hybridisation testing in CHD.
- Published in:
- 2015
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- Publication type:
- journal article
Endoscopic ultrasound and endobronchial ultrasound-guided fine-needle aspiration of deep-seated lymphadenopathy: Analysis of 1338 cases.
- Published in:
- CytoJournal, 2012, v. 9, n. 1, p. 1, doi. 10.4103/1742-6413.95845
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- Publication type:
- Article
Family history of hematologic malignancies and risk of multiple myeloma: differences by race and clinical features.
- Published in:
- 2016
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- Publication type:
- journal article
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
- Published in:
- Human Genetics, 2011, v. 130, n. 4, p. 517, doi. 10.1007/s00439-011-0970-4
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- Publication type:
- Article
The leukemia-associated transcription repressor AML1/MDS1/EVI1 requires CtBP to induce abnormal growth and differentiation of murine hematopoietic cells.
- Published in:
- Oncogene, 2002, v. 21, n. 20, p. 3232, doi. 10.1038/sj.onc.1205436
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- Publication type:
- Article
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A case of acute promyelocytic leukemia without RARalpha rearrangement and apparently normal cytogenetics.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
A case of acute promyelocytic leukemia without RARα rearrangement and apparently normal cytogenetics.
- Published in:
- 2011
- By:
- Publication type:
- journal article
A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Concomitant imatinib and ibrutinib in a patient with chronic myelogenous leukemia and chronic lymphocytic leukemia.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 6, p. 899, doi. 10.1002/ccr3.974
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- Publication type:
- Article
Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation.
- Published in:
- Molecular & Clinical Oncology, 2018, v. 8, n. 2, p. 306, doi. 10.3892/mco.2017.1532
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- Publication type:
- Article
Central Nervous System Double Relapse of Acute Promyelocytic Leukemia and Acute Myelomonocytic Leukemia.
- Published in:
- Case Reports in Hematology, 2019, p. 1, doi. 10.1155/2019/4907352
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- Publication type:
- Article
Relapse after Prolonged Remission in Philadelphia-Like Acute Lymphoblastic Leukemia.
- Published in:
- Case Reports in Hematology, 2019, p. 1, doi. 10.1155/2019/3536517
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- Publication type:
- Article
AML-430: Utility of End-of-Induction Bone Marrow Biopsy in APL Patients Treated with ATRA/ATO Regimen.
- Published in:
- Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S311, doi. 10.1016/S2152-2650(21)01736-5
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- Publication type:
- Article
Poster: AML-430: Utility of End-of-Induction Bone Marrow Biopsy in APL Patients Treated with ATRA/ATO Regimen.
- Published in:
- Clinical Lymphoma, Myeloma & Leukemia, 2021, v. 21, p. S218, doi. 10.1016/S2152-2650(21)01373-2
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- Publication type:
- Article
Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 607, doi. 10.1111/cge.14408
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- Publication type:
- Article
Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion).
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.829
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- Publication type:
- Article
Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia.
- Published in:
- Current Hematologic Malignancy Reports, 2017, v. 12, n. 6, p. 568, doi. 10.1007/s11899-017-0426-6
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- Publication type:
- Article
Normal and transforming functions of RUNX1: A perspective.
- Published in:
- Journal of Cellular Physiology, 2006, v. 207, n. 3, p. 582, doi. 10.1002/jcp.20538
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- Publication type:
- Article
A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with T-cell acute lymphoblastic leukemia.
- Published in:
- Genes, Chromosomes & Cancer, 2004, v. 39, n. 2, p. 110, doi. 10.1002/gcc.10302
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- Publication type:
- Article
Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis.
- Published in:
- Acta Neuropathologica, 2014, v. 127, n. 4, p. 573, doi. 10.1007/s00401-013-1209-3
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- Publication type:
- Article
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2386, doi. 10.1002/ajmg.a.34177
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- Publication type:
- Article
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1352, doi. 10.1002/ajmg.a.33894
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- Publication type:
- Article
Malignant Ewing-Like Neoplasm With an EWSR1-KLF15 Fusion: At the Crossroads of a Myoepithelial Carcinoma and a Ewing-Like Sarcoma. A Case Report With Treatment Options.
- Published in:
- 2018
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- Publication type:
- Case Study
Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1469, doi. 10.1002/humu.22692
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- Publication type:
- Article
Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 891, doi. 10.1002/humu.22569
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- Publication type:
- Article
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
- Published in:
- Human Mutation, 2011, v. 32, n. 2, p. 213, doi. 10.1002/humu.21418
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- Publication type:
- Article
Fragile Bones Secondary to SMURF1 Gene Duplication.
- Published in:
- 2020
- By:
- Publication type:
- journal article