Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Inherited bone marrow failure syndrome"'
Autor:
Chisholm, Karen M. a, b, ∗, Bohling, Sandra D. a, b
Publikováno v:
In Clinics in Laboratory Medicine December 2023 43(4):639-655
Autor:
Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m
Externí odkaz:
https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a
Publikováno v:
The Journal of Pediatric Academy, Vol 4, Iss 1, Pp 1-5 (2023)
Inherited bone marrow failure syndromes are disorders of hematopoiesis that are mostly encountered in childhood. Taking the basis from genetics, they are characterized by pancytopenia, increased risk of developing myelodysplastic syndrome and maligna
Externí odkaz:
https://doaj.org/article/332be549af4e44ac96598edb1ee68525
Autor:
Girard, Sandrine *
Publikováno v:
In Revue Francophone des Laboratoires April 2023 2023(551):40-51
Autor:
Gueiderikh, Anna a, b, c, Maczkowiak-Chartois, Frédérique a, b, c, Rosselli, Filippo a, b, c, ⁎
Publikováno v:
In Blood Reviews March 2022 52
Autor:
Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito
Publikováno v:
eJHaem, Vol 3, Iss 1, Pp 163-167 (2022)
Abstract Diamond‐Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic GATA1 splicing mutation (c.871‐24 C>T). We hypothesized that some patients clinically diagnosed
Externí odkaz:
https://doaj.org/article/ab23682fb6af434fa7f986a01af0fcf7
Akademický článek
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Autor:
Chhabra, Prashant a, Bhatia, Prateek a, ⁎, Singh, Minu a, Bansal, Deepak a, Jain, Richa a, Varma, Neelam b, Trehan, Amita a
Publikováno v:
In Blood Cells, Molecules and Diseases March 2021 87
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Diamond Blackfan anemia (DBA) is an autosomal dominant ribosomopathy caused predominantly by pathogenic germline variants in ribosomal protein genes. It is characterized by failure of red blood cell production, and common features inclu
Externí odkaz:
https://doaj.org/article/33382d6041ff4b748615775a8dafe5eb
Publikováno v:
Di-san junyi daxue xuebao, Vol 42, Iss 17, Pp 1730-1734 (2020)
Objective To investigate the effect of screening donor related genes for allogeneic hematopoietic stem cell transplantation (allo-HSCT) on the efficacy of the transplantation for adult patients with inherited bone marrow failure syndrome (IBMFS). Met
Externí odkaz:
https://doaj.org/article/b631e84616d34563b073ff6d6afb380a