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Quoted phrase not found in phrase index: "Diamond-Blackfan anemia 21"
Page 1
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemi …
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
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). The media …
A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
Dorenkamp M, Porret N, Diepold M, Rovó A. Dorenkamp M, et al. Medicina (Kaunas). 2023 Nov 5;59(11):1953. doi: 10.3390/medicina59111953. Medicina (Kaunas). 2023. PMID: 38004002 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. ...We present the case of a young woman who, at the age of 21, developed severe symptomatic anemia. Although, due to malformations, a conge …
Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome associated with malformations. ...We present …
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.
Kedar PS, Harigae H, Ito E, Muramatsu H, Kojima S, Okuno Y, Fujiwara T, Dongerdiye R, Warang PP, Madkaikar MR. Kedar PS, et al. Int J Hematol. 2019 Nov;110(5):618-626. doi: 10.1007/s12185-019-02716-9. Epub 2019 Aug 10. Int J Hematol. 2019. PMID: 31401766
The genetic diagnosis was performed by gene capture followed by next-generation sequencing of 76 genes known to cause anemia syndromes. Genetic diagnosis was achieved in 17 of 21 transfusion-dependent patients and undiagnosed by conventional workup. Four cases were …
The genetic diagnosis was performed by gene capture followed by next-generation sequencing of 76 genes known to cause anemia syndrome …
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Tsilou ET, et al. Ophthalmology. 2010 Mar;117(3):615-22. doi: 10.1016/j.ophtha.2009.08.023. Epub 2009 Dec 22. Ophthalmology. 2010. PMID: 20022637 Free PMC article.
PURPOSE: The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The 4 most frequent syndromes are Fanconi anemia (FA), dyskeratosis congeni …
PURPOSE: The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the …
Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D. Cmejla R, et al. Hum Mutat. 2009 Mar;30(3):321-7. doi: 10.1002/humu.20874. Hum Mutat. 2009. PMID: 19191325
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. ...Mutations in RPL5 were identified in eight patients from 6 out of 28 families (21.4%), and mutations in RPL11 in two patients from 2 …
Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. .. …
Primary chordoid meningioma of the lung.
Petscavage JM, Richardson ML, Nett M, Hoch B. Petscavage JM, et al. J Thorac Imaging. 2011 Feb;26(1):W14-6. doi: 10.1097/RTI.0b013e3181d9cbab. J Thorac Imaging. 2011. PMID: 20634760
We present a case of primary chordoid meningioma of the lung in a 21-year-old patient with Diamond-Blackfan anemia. The neoplasm was incidentally discovered as a new right upper lobe mass on admission chest radiograph. ...
We present a case of primary chordoid meningioma of the lung in a 21-year-old patient with Diamond-Blackfan anemia …
Desferrioxamine ototoxicity in an adult transfusion-dependent population.
Chiodo AA, Alberti PW, Sher GD, Francombe WH, Tyler B. Chiodo AA, et al. J Otolaryngol. 1997 Apr;26(2):116-22. J Otolaryngol. 1997. PMID: 9106087
OBJECTIVE: The purpose of this study was to identify the incidence of hearing loss in a population of 75 adult (19-68 years old) transfusion-dependent patients with thalassemia major, sickle cell disease, Diamond-Blackfan anemia, and various other hematologic …
OBJECTIVE: The purpose of this study was to identify the incidence of hearing loss in a population of 75 adult (19-68 years old) transfusion …
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis.
Tabata S, Mori M, Nagai Y, Hashimoto H, Arima H, Nagano S, Takiuchi Y, Inoue D, Kimura T, Shimoji S, Yanagita S, Ito K, Matsushita A, Nagai K, Takahashi T. Tabata S, et al. Intern Med. 2010;49(5):453-6. doi: 10.2169/internalmedicine.49.2991. Epub 2010 Mar 1. Intern Med. 2010. PMID: 20190482 Free article.
A 21-year-old man who was diagnosed with Diamond-Blackfan anemia at 2 years of age came to our hospital with the hope of undergoing bone marrow transplantation (BMT). ...
A 21-year-old man who was diagnosed with Diamond-Blackfan anemia at 2 years of age came to our hospital with the …
12 results