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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 2
1971 1
1972 2
1976 1
1977 1
1981 1
1982 1
1983 1
1984 1
1985 3
1986 2
1988 2
1989 1
1990 1
1991 2
1992 2
1993 1
1994 7
1995 2
1996 1
1997 2
1998 2
1999 6
2000 6
2001 5
2002 5
2003 6
2004 2
2005 7
2006 3
2007 6
2008 12
2009 4
2010 11
2011 8
2012 14
2013 15
2014 17
2015 16
2016 14
2017 25
2018 12
2019 20
2020 23
2021 25
2022 10
2023 3
2024 0

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278 results

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Quoted phrase not found in phrase index: "Anemia due to disorders of nucleotide metabolism"
Page 1
Congenital dyserythropoietic anemias.
Iolascon A, Andolfo I, Russo R. Iolascon A, et al. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. Blood. 2020. PMID: 32702750 Free article. Review.
Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. ...The main improvements regarding CDAs have been in the study of iron metabolism …
Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiat …
Beta-thalassemia.
Cao A, Galanello R. Cao A, et al. Genet Med. 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. Genet Med. 2010. PMID: 20098328 Free article. Review.
The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic and is defined by specific hematological features. Thalassemia major is a severe transfusion-dependent anemia. Thalassemia intermedia comprehend a clinica …
The beta-thalassemia carrier state, which results from heterozygosity for beta-thalassemia, is clinically asymptomatic and is defined by spe …
Laboratory Approach to Hemolytic Anemia.
Jamwal M, Sharma P, Das R. Jamwal M, et al. Indian J Pediatr. 2020 Jan;87(1):66-74. doi: 10.1007/s12098-019-03119-8. Epub 2019 Dec 10. Indian J Pediatr. 2020. PMID: 31823208 Review.
Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. ...The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. The diagnostic workup or labor …
Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. ...The pathognomic finding is a r …
Adenomyosis pathogenesis: insights from next-generation sequencing.
Bulun SE, Yildiz S, Adli M, Wei JJ. Bulun SE, et al. Hum Reprod Update. 2021 Oct 18;27(6):1086-1097. doi: 10.1093/humupd/dmab017. Hum Reprod Update. 2021. PMID: 34131719 Free PMC article. Review.
BACKGROUND: Adenomyosis, characterized by the presence of islands of endometrial tissue surrounded by hypertrophic smooth muscle cells within the myometrium, is one of the most challenging uterine disorders in terms of diagnosis and management. Adenomyosis presents with pe …
BACKGROUND: Adenomyosis, characterized by the presence of islands of endometrial tissue surrounded by hypertrophic smooth muscle cells withi …
MicroRNAs in β-thalassemia.
Wang F, Ling L, Yu D. Wang F, et al. Am J Med Sci. 2021 Jul;362(1):5-12. doi: 10.1016/j.amjms.2021.02.011. Epub 2021 Feb 16. Am J Med Sci. 2021. PMID: 33600783 Review.
beta-thalassemia is a lethal inherited disease resulting from beta-globin gene mutations. Severe beta-thalassemia requires regular blood transfusions. ...A couple of miRNAs, miR-144 and miR-150, repress alpha-globin expression, whereas miR-451 induces alpha-, beta- and gam …
beta-thalassemia is a lethal inherited disease resulting from beta-globin gene mutations. Severe beta-thalassemia requires regular bl …
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.
Moyer CL, Ivanovich J, Gillespie JL, Doberstein R, Radke MR, Richardson ME, Kaufmann SH, Swisher EM, Goodfellow PJ. Moyer CL, et al. Cancer Res. 2020 Feb 15;80(4):857-867. doi: 10.1158/0008-5472.CAN-19-1991. Epub 2019 Dec 10. Cancer Res. 2020. PMID: 31822495 Free PMC article.
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Normal BRIP1 activity is req …
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may …
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus.
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW. Lo YM, et al. Sci Transl Med. 2010 Dec 8;2(61):61ra91. doi: 10.1126/scitranslmed.3001720. Sci Transl Med. 2010. PMID: 21148127
Our study suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders prenatally in a noninvasive way....
Our study suggests the feasibility of using genome-wide scanning to diagnose fetal genetic disorders prenatally in a noninvasive way. …
Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, Zhou W, Hendricks RM, Dagnall C, Freedman ND, Carter B, Strollo S, Hicks B, Zhu B, Jones K, Paczesny S, Marsh SGE, Spellman SR, He M, Wang T, Lee SJ, Savage SA, Gadalla SM. McReynolds LJ, et al. Blood. 2022 Aug 25;140(8):909-921. doi: 10.1182/blood.2022016508. Blood. 2022. PMID: 35776903 Free PMC article.
Patients with severe aplastic anemia (SAA) can have an unrecognized inherited bone marrow failure syndrome (IBMFS) because of phenotypic heterogeneity. ...Cox proportional hazard models were used for survival analysis with follow-up until 2017. We identified 113 P/LP singl …
Patients with severe aplastic anemia (SAA) can have an unrecognized inherited bone marrow failure syndrome (IBMFS) because of phenoty …
Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management.
Bastida JM, Girós ML, Benito R, Janusz K, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Curr Med Chem. 2019;26(37):6766-6775. doi: 10.2174/0929867325666180705145900. Curr Med Chem. 2019. PMID: 29984642 Review.
Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence, characterized by increased levels of plasma plant sterols. ...Finally, to identify genetic defects, recent advances in high-throughput sequencing, especially in the use of targeted seq …
Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence, characterized by increased levels of plasma …
Uric acid nephrolithiasis.
Halabe A, Sperling O. Halabe A, et al. Miner Electrolyte Metab. 1994;20(6):424-31. Miner Electrolyte Metab. 1994. PMID: 7783706 Review.
Uric acid is the end-product of purine nucleotide metabolism in man. The renal handling of urate is a complicated process, resulting in a fractional clearance of 8.2-10.3%. ...Acquired and hereditary diseases accompanied by hyperuricosuria and stone disease i …
Uric acid is the end-product of purine nucleotide metabolism in man. The renal handling of urate is a complicated process, res …
278 results