Search Results - "Hirsch, Cassandra M"

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    Rational management approach to pure red cell aplasia by Balasubramanian, Suresh Kumar, Sadaps, Meena, Thota, Swapna, Aly, Mai, Przychodzen, Bartlomiej P, Hirsch, Cassandra M, Visconte, Valeria, Radivoyevitch, Tomas, Maciejewski, Jaroslaw P

    Published in Haematologica (Roma) (01-02-2018)
    “…Pure red cell aplasia is an orphan disease, and as such lacks rationally established standard therapies. Most cases are idiopathic; a subset is…”
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    Journal Article
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    Molecular features of early onset adult myelodysplastic syndrome by Hirsch, Cassandra M, Przychodzen, Bartlomiej P, Radivoyevitch, Tomas, Patel, Bhumika, Thota, Swapna, Clemente, Michael J, Nagata, Yasunobu, LaFramboise, Thomas, Carraway, Hetty E, Nazha, Aziz, Sekeres, Mikkael A, Makishima, Hideki, Maciejewski, Jaroslaw P

    Published in Haematologica (Roma) (01-06-2017)
    “…Myelodysplastic syndromes are typically diseases of older adults. Patients in whom the onset is early may have distinct molecular and clinical features or…”
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    Journal Article
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    Selective Pharmacologic Inhibition of Paroxysmal Nocturnal Hemoglobinuria Clones by Graham, Amy C, Efanov, Alexey, Przychodzen, Bartlomiej P., Hirsch, Cassandra M., Adema, Vera, Visconte, Valeria, Maciejewski, Jaroslaw P.

    Published in Blood (29-11-2018)
    “…Paroxysmal nocturnal hemoglobinuria (PNH) is usually associated with reduced bone marrow (BM) capacity caused by acquired idiopathic aplastic anemia (AA). PIGA…”
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    Journal Article
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    Clonal Hierarchy of Piga Mutant Cells Assessed By Next Generation Sequencing Is More Complex Than Previously Recognized in Paroxysmal Noctural Hemoglobinuria by Clemente, Michael J., Przychodzen, Bartlomiej P, Hirsch, Cassandra M., Maciejewski, Jaroslaw P

    Published in Blood (02-12-2016)
    “…Since the pivotal revelation of the PIGA gene mutations responsible for glycosylphosphatidylinositol (GPI) anchor deficiency over 20 years ago, molecular and…”
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    Journal Article
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    Quantification of Erythroblast- and Myelocyte-Derived mRNAs in Plasma Exosomes As an Indicator of Bone Marrow Status in Patients with Various Types of Anemias and Myeloproliferative Disorders by Mitsuhashi, Masato, Murakami, Taku, Kuzmanovic, Teodora, Hirsch, Cassandra M., Makishima, Hideki, Maciejewski, Jaroslaw P

    Published in Blood (02-12-2016)
    “…Introduction. Bone marrow (BM) aspiration is a routine test for hematologists, but it is a painful procedure for the patients. Since BM cells primarily stay in…”
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    Journal Article
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    Heterozygous CTC1 Variants in Acquired Bone Marrow Failure by Shen, Wenyi, Hirsch, Cassandra M., Przychodzen, Bartlomiej P., Mahfouz, Reda Z., Radivoyevitch, Tomas, Williams, Louis, Asad, Mohammad Fahad B., Maciejewski, Jaroslaw P.

    Published in Blood (29-11-2018)
    “…Germ line (GL) alterations of telomerase machinery genes may lead to inherited telomeropathies, but recent analysis of large control populations revealed that…”
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    Journal Article
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    Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH) by Shen, Wenyi, Hirsch, Cassandra M., Przychodzen, Bartlomiej P., Makishima, Hideki, Williams, Louis, Mukherjee, Sudipto, Carraway, Hetty E., Sekeres, Mikkael A., Maciejewski, Jaroslaw P.

    Published in Blood (29-11-2018)
    “…Next generation sequencing (NGS) methods, including whole exome sequencing (WES) and sequencing of large panels of genes have become standard tools…”
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    Journal Article
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    Clinical and Biological Implications of CUX1 Mutations in Myeloid Neoplasms by Aly, Mai, Hosono, Naoko, Bartlomiej, Przychodzen, Makishima, Hideki, Yasunobu, Nagata, Hirsch, Cassandra M., Sekeres, Mikkael A., Maciejewski, Jaroslaw P.

    Published in Blood (02-12-2016)
    “…Recurrent somatic mutations of CUX1 are described in myeloid neoplasms. CUX1 is located at chromosome 7q22.1; -7/del(7q) involving CUX1 locus are common…”
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    Journal Article
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    Somatic PRPF8 Mutations in Myeloid Neoplasia by Adema, Vera, Hirsch, Cassandra M., Przychodzen, Bartlomiej P., Nagata, Yasunobu, Lemelle, Elise, Nazha, Aziz, Carraway, Hetty E., Sekeres, Mikkael A., Visconte, Valeria, Maciejewski, Jaroslaw P., Padgett, Richard A

    Published in Blood (08-12-2017)
    “…Somaticmutations in genes of the RNA-splicing machinery are recurrent in myeloid neoplasia. PRPF8 has a central role in the spliceosome assembly and it is…”
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    Journal Article
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    Paroxysmal Nocturnal Hemoglobinuria Results from Initial Clonal PIG-a Mosaicism by Clemente, Michael J., Przychodzen, Bartlomiej, Hirsch, Cassandra M., Patel, Bhumika J., Bat, Taha, Nagata, Yasunobu, Wlodarski, Marcin W., Makishima, Hideki, Maciejewski, Jaroslaw P.

    Published in Blood (08-12-2017)
    “…The pathogenesis of PNH involves alteration of at least one HSC clone, characterized by a somatic mutation in the PIG-A gene. The resulting phenotype appears…”
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    Clinical and Molecular Heterogeneity of Moderate Aplastic Anemia by Patel, Bhumika J., Barot, Shimoli Vipul, Kuzmanovic, Teodora, Przychodzen, Bartlomiej P., Hirsch, Cassandra M., Awada, Hassan, Hasipek, Metis, Thota, Swapna, Radivoyevitch, Tomas, Advani, Anjali S., Kalaycio, Matt, Sekeres, Mikkael A., Carraway, Hetty E., Maciejewski, Jaroslaw P.

    Published in Blood (29-11-2018)
    “…Based on clinical Camitta criteria, acquired aplastic anemia is categorized according to the degree of blood count depression as severe (sAA) or moderate…”
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    Analysis of Even a Limited Number of Genes Indicates a Strong Inherited Component in Otherwise Typical Sporadic MDS by Hirsch, Cassandra M., Shen, Wenyi, Przychodzen, Bartlomiej P., Nagata, Yasunobu, Adema, Vera, Kuzmanovic, Teodora, Williams, Louis, Nazha, Aziz, Visconte, Valeria, Carraway, Hetty E., Sekeres, Mikkael A., Maciejewski, Jaroslaw P.

    Published in Blood (29-11-2018)
    “…Somatic mutations are frequently found in patients with MDS. Germline (GL) alterations are less common, in part due to sequencing panels limited to mutations…”
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    Journal Article
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