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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18040-y
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- Publication type:
- Article
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302
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- Publication type:
- Article
Phenotypic subregions within the split-hand/foot malformation 1 locus.
- Published in:
- Human Genetics, 2016, v. 135, n. 3, p. 345, doi. 10.1007/s00439-016-1635-0
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- Publication type:
- Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Publication type:
- Article
Upregulated MCL1 mRNA expression in multiple myeloma lacks association with survival.
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- 2009
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- Publication type:
- Letter
Myeloma cell expression of 10 candidate genes for osteolytic bone disease. Only overexpression of DKK1 correlates with clinical bone involvement at diagnosis.
- Published in:
- British Journal of Haematology, 2008, v. 140, n. 1, p. 25, doi. 10.1111/j.1365-2141.2007.06871.x
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- Publication type:
- Article
Dysregulation of CD47 and the ligands thrombospondin 1 and 2 in multiple myeloma.
- Published in:
- British Journal of Haematology, 2007, v. 138, n. 6, p. 756, doi. 10.1111/j.1365-2141.2007.06729.x
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- Publication type:
- Article
Identification of ID-1 as a potential target gene of MMSET in multiple myeloma.
- Published in:
- British Journal of Haematology, 2005, v. 130, n. 5, p. 700, doi. 10.1111/j.1365-2141.2005.05664.x
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- Publication type:
- Article
Occurrence of dysregulated oncogenes in primary plasma cells representing consecutive stages of myeloma pathogenesis: indications for different disease entities.
- Published in:
- British Journal of Haematology, 2003, v. 123, n. 2, p. 253, doi. 10.1046/j.1365-2141.2003.04577.x
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- Publication type:
- Article
Mutation update on the CHD7 gene involved in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
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- Publication type:
- Article
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
- Published in:
- Movement Disorders, 2012, v. 27, n. 8, p. 1034, doi. 10.1002/mds.25033
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- Publication type:
- Article