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Year Number of Results
1974 1
1978 1
1982 1
1983 2
1986 1
1988 1
1990 1
1991 1
1993 1
1994 1
1995 1
1997 2
1998 1
2001 1
2007 2
2008 3
2009 2
2010 2
2011 1
2012 2
2013 2
2014 1
2015 2
2016 2
2017 4
2019 2
2020 3
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2023 4
2024 0

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44 results

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Page 1
Primary myelofibrosis: 2023 update on diagnosis, risk-stratification, and management.
Tefferi A. Tefferi A. Am J Hematol. 2023 May;98(5):801-821. doi: 10.1002/ajh.26857. Epub 2023 Feb 6. Am J Hematol. 2023. PMID: 36680511 Free article. Review.
KARYOTYPE: Very high-risk abnormalities include -7, inv (3), i(17q), +21, +19, 12p- and 11q-. Favorable risk abnormalities include normal karyotype or isolated +9, 13q-, 20q-, 1q abnormalities and loss of Y chromosome. ...Drug therapy in MF is currentl …
KARYOTYPE: Very high-risk abnormalities include -7, inv (3), i(17q), +21, +19, 12p- and 11q-. Favorable risk abnormalities inc …
Momelotinib for the treatment of myelofibrosis.
Xu L, Feng J, Gao G, Tang H. Xu L, et al. Expert Opin Pharmacother. 2019 Nov;20(16):1943-1951. doi: 10.1080/14656566.2019.1657093. Epub 2019 Aug 26. Expert Opin Pharmacother. 2019. PMID: 31450973 Review.
Introduction: The abnormally activated JAK-STAT pathway plays a central role in the pathogenesis of BCR/ABL-negative myeloproliferative neoplasms (MPNs), simultaneously providing a theoretical and clinical basis for the development of small-molecule compounds targeting JAK …
Introduction: The abnormally activated JAK-STAT pathway plays a central role in the pathogenesis of BCR/ABL-negative myeloproliferati …
Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Pullarkat ST, Wu W, Pullarkat V. Pullarkat ST, et al. Cancer Treat Res. 2021;181:167-178. doi: 10.1007/978-3-030-78311-2_10. Cancer Treat Res. 2021. PMID: 34626361
Mastocytosis is a rare hematologic disorder characterized by abnormal proliferation and accumulation of neoplastic mast cells in various body sites. ...In the case of indolent SM, the goal of treatment is to control mediator release-related effects as well as to reduce mas …
Mastocytosis is a rare hematologic disorder characterized by abnormal proliferation and accumulation of neoplastic mast cells in vari …
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G, Biancalana V, Echaniz-Laguna A, Noury JB, Lornage X, Moggio M, Ripolone M, Violano R, Marcorelles P, Maréchal D, Renaud F, Maurage CA, Tard C, Cuisset JM, Laporte J, Böhm J. Morin G, et al. Hum Mutat. 2020 Jan;41(1):17-37. doi: 10.1002/humu.23899. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31448844 Review.
Calcium (Ca(2+) ) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca(2+) entry, storage, and release. Store-operated Ca(2+) entry (SOCE) is a major mechanism controlling extracellular Ca(2+) entry, …
Calcium (Ca(2+) ) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regula …
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L. Rosato S, et al. Genes (Basel). 2022 Jan 28;13(2):261. doi: 10.3390/genes13020261. Genes (Basel). 2022. PMID: 35205306 Free PMC article. Review.
Hairy cell leukaemia-variant: Disease features and treatment.
Matutes E, Martínez-Trillos A, Campo E. Matutes E, et al. Best Pract Res Clin Haematol. 2015 Dec;28(4):253-63. doi: 10.1016/j.beha.2015.09.002. Epub 2015 Oct 8. Best Pract Res Clin Haematol. 2015. PMID: 26614904 Review.
Mutations of the immunoglobulin heavy chain (IGVH) are seen in two thirds of cases with a preferential VH4-34 family usage. There is no distinct chromosomal abnormality but del17p13 and mutations of the TP53 gene are frequent. ...Patients are refractory to purine analogues …
Mutations of the immunoglobulin heavy chain (IGVH) are seen in two thirds of cases with a preferential VH4-34 family usage. There is no dist …
Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.
Bennett LL, Turcotte K. Bennett LL, et al. Drug Des Devel Ther. 2015 Aug 18;9:4639-47. doi: 10.2147/DDDT.S77760. eCollection 2015. Drug Des Devel Ther. 2015. PMID: 26345314 Free PMC article. Review.
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte- …
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease typ …
Diagnostic criteria and classification of mastocytosis: a consensus proposal.
Valent P, Horny HP, Escribano L, Longley BJ, Li CY, Schwartz LB, Marone G, Nuñez R, Akin C, Sotlar K, Sperr WR, Wolff K, Brunning RD, Parwaresch RM, Austen KF, Lennert K, Metcalfe DD, Vardiman JW, Bennett JM. Valent P, et al. Leuk Res. 2001 Jul;25(7):603-25. doi: 10.1016/s0145-2126(01)00038-8. Leuk Res. 2001. PMID: 11377686 Review.
The term 'mastocytosis' denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. ...ASM is characterized by impaired organ-function due to infiltration of the bone marrow, liver, spleen …
The term 'mastocytosis' denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (M …
Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia.
Loh ML. Loh ML. Br J Haematol. 2011 Mar;152(6):677-87. doi: 10.1111/j.1365-2141.2010.08525.x. Br J Haematol. 2011. PMID: 21623760 Free article. Review.
While the current standard of care for patients with JMML relies on allogeneic haematopoietic stem cell transplant (HSCT), relapse is the most frequent cause of treatment failure. This review outlines our understanding of the genetic underpinnings of JMML with a recent upd …
While the current standard of care for patients with JMML relies on allogeneic haematopoietic stem cell transplant (HSCT), relapse is …
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R, Qin Z, Huang L, Luo H, Peng H, Zhou X, Zhao Z, Liu M, Yang P, Shi T. Wang R, et al. Hereditas. 2023 Mar 13;160(1):11. doi: 10.1186/s41065-023-00272-1. Hereditas. 2023. PMID: 36907956 Free PMC article.
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by mutations in SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for liver and spleen enlargement and lung disease …
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) disorder, also known as Niemann-Pick disease (NPD) is a rare genetic disease caused by m …
44 results