Found: 17
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Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-42584-1
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- Publication type:
- Article
Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.
- Published in:
- Neurogenetics, 2005, v. 6, n. 2, p. 73, doi. 10.1007/s10048-005-0214-7
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- Publication type:
- Article
Inhibition of Telomerase Activity by a Hammerhead Ribozyme Targeting the RNA Component of Telomerase in Human Melanoma Cells.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 2, p. 259, doi. 10.1046/j.1523-1747.2000.00870.x
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- Publication type:
- Article
Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 6, p. 1419, doi. 10.1007/s00415-018-8826-7
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- Publication type:
- Article
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 40, doi. 10.1186/1750-1172-6-40
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- Article
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
- Published in:
- 2019
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- Publication type:
- journal article
Enigmatic In Vivo iduronate-2-sulfatase ( IDS) mutant transcript correction to wild-type in Hunter syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. E1261, doi. 10.1002/humu.21208
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- Publication type:
- Article
Molecular analysis of the HEXA gene in Italian patients with infantile and late Onset Tay-Sachs disease: detection of fourteen novel alleles.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 282, doi. 10.1002/humu.9363
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- Publication type:
- Article
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
- Published in:
- Human Mutation, 2005, v. 25, n. 5, p. 491, doi. 10.1002/humu.20165
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- Publication type:
- Article
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 849, doi. 10.1002/humu.23243
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- Publication type:
- Article
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 139, doi. 10.1002/humu.22923
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- Publication type:
- Article
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
- Published in:
- Human Mutation, 2010, v. 31, n. 12, p. E1894, doi. 10.1002/humu.21367
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- Publication type:
- Article
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.
- Published in:
- Journal of Molecular Medicine, 2006, v. 84, n. 8, p. 692, doi. 10.1007/s00109-006-0057-1
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- Publication type:
- Article
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 13, p. 2250, doi. 10.1093/hmg/ddaa112
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- Publication type:
- Article
A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 2, p. 274, doi. 10.1093/hmg/ddz293
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- Publication type:
- Article
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 13, p. 2262, doi. 10.1093/hmg/ddy131
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- Publication type:
- Article
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2627, doi. 10.1002/ajmg.a.36667
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- Publication type:
- Article