Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients
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T. Walsh | M. King | J. Abkowitz | C. Pritchard | A. Shimamura | S. Gulsuner | Phoenix A Ho | P. Ho | Marilyn Sánchez-Bonilla | Siobán B. Keel | Angela Scott
[1] M. Wlodarski,et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. , 2016, Blood.
[2] Li Ding,et al. Germline Mutations in Predisposition Genes in Pediatric Cancer. , 2015, The New England journal of medicine.
[3] J. Beyene,et al. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes , 2015, Journal of Medical Genetics.
[4] Zhongming Zhao,et al. Rare variants in RTEL1 are associated with familial interstitial pneumonia. , 2015, American journal of respiratory and critical care medicine.
[5] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[6] David A. Williams,et al. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity , 2015, Haematologica.
[7] M. Nagasaki,et al. Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia , 2014, Annals of Hematology.
[8] J. Orange,et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. , 2014, Blood.
[9] P. Hainaut,et al. Li‐Fraumeni and Li‐Fraumeni—like syndrome among children diagnosed with pediatric cancer in Southern Brazil , 2013, Cancer.
[10] N. Young,et al. Current concepts in the pathophysiology and treatment of aplastic anemia. , 2013, Hematology. American Society of Hematology. Education Program.
[11] J. Schug,et al. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome , 2013, Proceedings of the National Academy of Sciences.
[12] P. Rosenberg,et al. Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. , 2013, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.
[13] L. Siever,et al. Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network , 2013, Cell.
[14] K. Offit,et al. A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome , 2013, PLoS genetics.
[15] V. Plagnol,et al. Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita , 2013, American journal of human genetics.
[16] P. Rohrlich,et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. , 2013, Blood.
[17] K. Jacobs,et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita , 2013, Human Genetics.
[18] V. Plagnol,et al. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia , 2012, Haematologica.
[19] Franco Locatelli,et al. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. , 2012, Blood.
[20] J. Rosenfeld,et al. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. , 2012, Blood.
[21] I. Baumann,et al. Classification of childhood aplastic anemia and myelodysplastic syndrome. , 2011, Hematology. American Society of Hematology. Education Program.
[22] Rochelle L. Garcia,et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing , 2011, Proceedings of the National Academy of Sciences.
[23] D. Schindler,et al. Fanconi Anemia Core Complex Gene Promoters Harbor Conserved Transcription Regulatory Elements , 2011, PloS one.
[24] Anna L. Brown,et al. Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia , 2011, Nature Genetics.
[25] Tom Walsh,et al. Accurate and exact CNV identification from targeted high-throughput sequence data , 2011, BMC Genomics.
[26] N. Young,et al. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. , 2010, JAMA.
[27] T. Walsh,et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing , 2010, Proceedings of the National Academy of Sciences.
[28] B. Alter,et al. Pathophysiology and management of inherited bone marrow failure syndromes. , 2010, Blood reviews.
[29] Chieh-Yu Liu,et al. AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. , 2009, Blood.
[30] P. Rosenberg,et al. Cancer in dyskeratosis congenita. , 2009, Blood.
[31] C. Richler,et al. Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome , 2009, PloS one.
[32] C. Richards,et al. Validation of Fanconi anemia complementation Group A assignment using molecular analysis , 2009, Genetics in Medicine.
[33] J. Ivanovich,et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. , 2009, Blood.
[34] C. Voermans,et al. Functional analysis of single amino‐acid mutations in the thrombopoietin‐receptor Mpl underlying congenital amegakaryocytic thrombocytopenia , 2008, British journal of haematology.
[35] N. Orr,et al. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. , 2008, American journal of human genetics.
[36] H. Du,et al. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. , 2008, Blood.
[37] M. McLellan,et al. Low Frequency of Telomerase RNA Mutations Among Children With Aplastic Anemia or Myelodysplastic Syndrome , 2006, Journal of pediatric hematology/oncology.
[38] A. Børresen-Dale,et al. Acute myelogenous leukemia in a patient with Li–Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report , 2006, Leukemia.
[39] K. Ihara,et al. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. , 2005, Experimental hematology.
[40] T. Lange,et al. Shelterin: the protein complex that shapes and safeguards human telomeres , 2005 .
[41] R. Takimoto,et al. A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer. , 2005, Internal medicine.
[42] S. Chanock,et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. , 2005, The New England journal of medicine.
[43] S. Chanock,et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. , 2003, Blood.
[44] S. Kato,et al. Understanding the function–structure and function–mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[45] B. Alter,et al. The CCC system: is it really the answer to pediatric MDS? , 2003, Journal of pediatric hematology/oncology.
[46] I. Baumann,et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases , 2003, Leukemia.
[47] A. D’Andrea,et al. A novel diagnostic screen for defects in the Fanconi anemia pathway. , 2002, Blood.
[48] I. Dokal,et al. Dyskeratosis congenita in all its forms , 2000, British journal of haematology.
[49] K. Collins,et al. A telomerase component is defective in the human disease dyskeratosis congenita , 1999, Nature.
[50] John M. Maris,et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia , 1999, Nature Genetics.
[51] A. Poustka,et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. , 1999, American journal of human genetics.
[52] M. Eguchi,et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[53] D. Slater,et al. The p53 gene in pediatric therapy-related leukemia and myelodysplasia. , 1996, Blood.
[54] R. Berger,et al. Bone Marrow Transplantation in Fanconi Anaemia , 1980, British journal of haematology.
[55] P. Rohrlich,et al. High frequency of GATA 2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome , myelodysplasia , and acute myeloid leukemia * , 2013 .
[56] Claude-Alain H. Roten,et al. Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..
[57] T. de Lange,et al. Shelterin: the protein complex that shapes and safeguards human telomeres. , 2005, Genes & development.
[58] Johanna M. Rommens,et al. Mutations in SBDS are associated with Shwachman–Diamond syndrome , 2003, Nature Genetics.