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Quoted phrase not found in phrase index: "Diamond-Blackfan anemia 13"
Page 1
Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia.
Lipton JM, Molmenti CLS, Desai P, Lipton A, Ellis SR, Vlachos A. Lipton JM, et al. Genes (Basel). 2021 Dec 26;13(1):56. doi: 10.3390/genes13010056. Genes (Basel). 2021. PMID: 35052397 Free PMC article. Review.
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disorders known as ribosomopathies. ...Small case series and case reports demonstrate DBA to be a cancer predisposition syndrome. Recent analyses …
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome, the founding member of a class of disor …
Genomic characterization of the inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Hematol. 2013 Oct;50(4):333-47. doi: 10.1053/j.seminhematol.2013.09.002. Semin Hematol. 2013. PMID: 24246701 Free PMC article. Review.
Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis, are causative of Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond-Blackfan anemia (DBA), respectively. ...
Highly penetrant germline mutations in key pathways, such as DNA repair, telomere biology, or ribosomal biogenesis, are causative of Fanconi …
Managing the Unusual Causes of Fetal Anemia.
Maisonneuve E, Ben M'Barek I, Leblanc T, Da Costa L, Friszer S, Pernot F, Thomas P, Castaigne V, Toly N'Dour C, Mailloux A, Cortey A, Jouannic JM. Maisonneuve E, et al. Fetal Diagn Ther. 2020;47(2):156-164. doi: 10.1159/000501554. Epub 2019 Sep 10. Fetal Diagn Ther. 2020. PMID: 31505487
Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). The median gestational age at diagnosis was 26 weeks of gestation (WG; range 21-33). ...There was 1 case with suspected type I CDA and 1 with …
Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). Th …
Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Gulbis B, et al. Adv Exp Med Biol. 2010;686:375-96. doi: 10.1007/978-90-481-9485-8_22. Adv Exp Med Biol. 2010. PMID: 20824457 Review.
Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Congenital defects of erythropoiesis are less frequent Diamond-Blackfan Anaemia (DBA) and Fanconi Anaemia (FA) exhibit a ver …
Some other causes of CHA are extremely rare and only few individual cases have been described worldwide (i.e. some RBC enzymopathies). Conge …
Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes.
Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Bezzerri V, et al. Int J Mol Sci. 2020 Jun 30;21(13):4672. doi: 10.3390/ijms21134672. Int J Mol Sci. 2020. PMID: 32630050 Free PMC article. Review.
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosome biogenesis. The classical IBMFS include Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), Fanco …
The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair, telomere biology and ribosom …
Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.
Chhabra P, Bhatia P, Singh M, Bansal D, Jain R, Varma N, Trehan A. Chhabra P, et al. Blood Cells Mol Dis. 2021 Mar;87:102510. doi: 10.1016/j.bcmd.2020.102510. Epub 2020 Nov 5. Blood Cells Mol Dis. 2021. PMID: 33197791
DESIGN: Cases were evaluated as two groups: Group 1 (n = 56; DBA-23, FA-18, DC-2, UBMFS-13) included children with suspected IBMFS based on clinical phenotype and accessible lab investigations and Group 2 (n = 53) included children with IAA treated with IST. ...RESULTS: We …
DESIGN: Cases were evaluated as two groups: Group 1 (n = 56; DBA-23, FA-18, DC-2, UBMFS-13) included children with suspected IBMFS ba …
Diamond-Blackfan anemia. Natural history and sequelae of treatment.
Janov AJ, Leong T, Nathan DG, Guinan EC. Janov AJ, et al. Medicine (Baltimore). 1996 Mar;75(2):77-8. doi: 10.1097/00005792-199603000-00004. Medicine (Baltimore). 1996. PMID: 8606629 Free article.
To define further the natural history of treated Diamond-Blackfan anemia (DBA), a congenital anemia characterized by a paucity of erythroid precursors, we analyzed 76 patients diagnosed or followed at Children's Hospital, Boston, between 1931 and 1992. …
To define further the natural history of treated Diamond-Blackfan anemia (DBA), a congenital anemia characterize …
Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation.
Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I; Aplastic Anemia Committee Japanese Society of Pediatric Hematology. Ohga S, et al. Int J Hematol. 2004 Jan;79(1):22-30. doi: 10.1007/BF02983529. Int J Hematol. 2004. PMID: 14979474
The epidemiology and treatment outcomes for Diamond-Blackfan anemia (DBA) were surveyed in a cohort of 54 children (M/F = 26:28) registered in Japan from 1988 to 1998. ...Transfusion and medication were stopped at 249 days and 933 days after diagnosis in 34 a …
The epidemiology and treatment outcomes for Diamond-Blackfan anemia (DBA) were surveyed in a cohort of 54 children (M/F …
Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry.
Lipton JM, Molmenti CLS, Hussain M, Desai P, Florento M, Atsidaftos E, Vlachos A. Lipton JM, et al. Pediatr Blood Cancer. 2021 Aug;68(8):e28984. doi: 10.1002/pbc.28984. Epub 2021 Jun 5. Pediatr Blood Cancer. 2021. PMID: 34089224
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by red cell failure, congenital anomalies, poor linear growth, and cancer predisposition. Two previous analyses from the Diamond Blackfan Anemia …
Diamond Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome characterized by red cell failure, conge …
Growth hormone improves short stature in children with Diamond-Blackfan anemia.
Howell JC, Joshi SA, Hornung L, Khoury J, Harris RE, Rose SR. Howell JC, et al. Pediatr Blood Cancer. 2015 Mar;62(3):402-8. doi: 10.1002/pbc.25341. Epub 2014 Dec 9. Pediatr Blood Cancer. 2015. PMID: 25492299
BACKGROUND: Diamond-Blackfan anemia (DBA), an inherited marrow failure syndrome, has severe hypoplastic anemia in infancy and association with aplastic anemia, MDS/leukemia, and other malignancies. ...PROCEDURES: GH treatment data were obtained …
BACKGROUND: Diamond-Blackfan anemia (DBA), an inherited marrow failure syndrome, has severe hypoplastic anemia i …
31 results