Found: 23
Select item for more details and to access through your institution.
Congenital X‐linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 1, p. 18, doi. 10.1002/ajh.26382
- By:
- Publication type:
- Article
Pancreatic lipomatosis in Diamond–Blackfan anemia: The importance of genetic testing in bone marrow failure disorders.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 9, p. 1194, doi. 10.1002/ajh.25155
- By:
- Publication type:
- Article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
- Published in:
- American Journal of Hematology, 2014, v. 89, n. 3, p. 315, doi. 10.1002/ajh.23616
- By:
- Publication type:
- Article
Characterization of mitochondrial ferritin-deficient mice.
- Published in:
- American Journal of Hematology, 2010, v. 85, n. 12, p. 958, doi. 10.1002/ajh.21872
- By:
- Publication type:
- Article
Loss of a novel ciliary protein results in primary ciliary dyskinesia in mice.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A10
- By:
- Publication type:
- Article
QTLs for murine red blood cell parameters in LG/J and SM/J F and advanced intercross lines.
- Published in:
- Mammalian Genome, 2012, v. 23, n. 5/6, p. 356, doi. 10.1007/s00335-012-9393-3
- By:
- Publication type:
- Article
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. 1367, doi. 10.1002/humu.24267
- By:
- Publication type:
- Article
Corrigendum: Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts.
- Published in:
- Nature, 2013, v. 496, n. 7445, p. 386, doi. 10.1038/nature12078
- By:
- Publication type:
- Article
Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts.
- Published in:
- Nature, 2012, v. 491, n. 7425, p. 608, doi. 10.1038/nature11536
- By:
- Publication type:
- Article
Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels.
- Published in:
- BioMetals, 2015, v. 28, n. 2, p. 293, doi. 10.1007/s10534-015-9824-1
- By:
- Publication type:
- Article
The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron–sulfur cluster biogenesis.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 6, p. 953
- By:
- Publication type:
- Article
A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 1, p. 1, doi. 10.1002/pbc.29309
- By:
- Publication type:
- Article
Ringed sideroblasts in β-thalassemia.
- Published in:
- Pediatric Blood & Cancer, 2017, v. 64, n. 5, p. n/a, doi. 10.1002/pbc.26324
- By:
- Publication type:
- Article
Ringed sideroblasts in β-thalassemia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 54, n. 2, p. 273, doi. 10.1002/pbc.22244
- By:
- Publication type:
- Article
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 651, doi. 10.1038/ng.359
- By:
- Publication type:
- Article
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
- Published in:
- Nature Genetics, 2008, v. 40, n. 5, p. 569, doi. 10.1038/ng.130
- By:
- Publication type:
- Article
Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1025, doi. 10.1038/ng2059
- By:
- Publication type:
- Article
Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells.
- Published in:
- Nature Genetics, 2005, v. 37, n. 11, p. 1264, doi. 10.1038/ng1658
- By:
- Publication type:
- Article
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
- Published in:
- Scientific Reports, 2016, p. 26202, doi. 10.1038/srep26202
- By:
- Publication type:
- Article
Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Loss of the Acyl-CoA Binding Protein (Acbp) Results in Fatty Acid Metabolism Abnormalities in Mouse Hair and Skin.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 1, p. 16, doi. 10.1038/sj.jid.5700511
- By:
- Publication type:
- Article