Found: 49
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Clinical characterization of the first Belgian SCN5A founder mutation cohort.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 7111, doi. 10.3390/ijms22137111
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- Publication type:
- Article
Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV-1.
- Published in:
- Journal of Medical Virology, 2012, v. 84, n. 2, p. 319, doi. 10.1002/jmv.22255
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- Publication type:
- Article
Evaluation of host genetic and viral factors as surrogate markers for HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian HTLV-1-infected patients.
- Published in:
- Journal of Medical Virology, 2010, v. 82, n. 3, p. 460, doi. 10.1002/jmv.21675
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- Publication type:
- Article
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132
- By:
- Publication type:
- Article
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 549, doi. 10.1007/s10038-007-0137-2
- By:
- Publication type:
- Article
Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852
- By:
- Publication type:
- Article
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
- Published in:
- Nature Genetics, 2006, v. 38, n. 7, p. 770, doi. 10.1038/ng1829
- By:
- Publication type:
- Article
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0655-0
- By:
- Publication type:
- Article
varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.
- Published in:
- Bioinformatics, 2023, v. 39, n. 1, p. 1, doi. 10.1093/bioinformatics/btac756
- By:
- Publication type:
- Article
Molecular insights into bicuspid aortic valve development and the associated aortopathy.
- Published in:
- AIMS Molecular Science, 2017, v. 4, n. 4, p. 478, doi. 10.3934/molsci.2017.4.478
- By:
- Publication type:
- Article
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 ( RIN2).
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 79, doi. 10.1007/s00439-010-0829-0
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- Publication type:
- Article
Human hereditary hearing impairment: mouse models can help to solve the puzzle.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 325, doi. 10.1007/s00439-008-0556-y
- By:
- Publication type:
- Article
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 329, doi. 10.1007/s00439-002-0889-x
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- Publication type:
- Article
The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 965, doi. 10.1038/ejhg.2011.63
- By:
- Publication type:
- Article
A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 347, doi. 10.1038/ejhg.2010.179
- By:
- Publication type:
- Article
A genome-wide association study for age-related hearing impairment in the Saami.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 685, doi. 10.1038/ejhg.2009.234
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- Publication type:
- Article
Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 569, doi. 10.1038/ejhg.2009.210
- By:
- Publication type:
- Article
Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 3, p. 329, doi. 10.1038/ejhg.2008.172
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- Publication type:
- Article
Is DFNA5 a susceptibility gene for age-related hearing impairment?
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 12, p. 883, doi. 10.1038/sj.ejhg.5200878
- By:
- Publication type:
- Article
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247
- By:
- Publication type:
- Article
Analysis of Gene Polymorphisms Associated with K<sup>+</sup> Ion Circulation in the Inner Ear of Patients Susceptible and Resistant to Noise-induced Hearing Loss.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 4, p. 411, doi. 10.1111/j.1469-1809.2009.00521.x
- By:
- Publication type:
- Article
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02618-4
- By:
- Publication type:
- Article
DFNA5, a Gene Involved in Hearing Loss and Cancer: A Review.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2012, v. 121, n. 3, p. 197, doi. 10.1177/000348941212100310
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- Publication type:
- Article
FURTHER DELINEATION OF THE DFNA5 PHENOTYPE: RESULTS OF SPEECH RECOGNITION TESTS.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2002, v. 111, n. 7, p. 639, doi. 10.1177/000348940211100712
- By:
- Publication type:
- Article
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells.
- Published in:
- Histochemistry & Cell Biology, 2003, v. 119, n. 3, p. 247, doi. 10.1007/s00418-003-0495-6
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- Publication type:
- Article
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80755-7
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2590, doi. 10.1093/hmg/ddt107
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- Publication type:
- Article
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1824, doi. 10.1002/humu.24433
- By:
- Publication type:
- Article
An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 571, doi. 10.1002/humu.22540
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- Publication type:
- Article
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1053, doi. 10.1002/humu.21525
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- Publication type:
- Article
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1233, doi. 10.1002/humu.21355
- By:
- Publication type:
- Article
The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 786, doi. 10.1002/humu.20360
- By:
- Publication type:
- Article
Variants in structural cardiac genes in patients with cancer therapy-related cardiac dysfunction after anthracycline chemotherapy: a case control study.
- Published in:
- Cardio-Oncology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40959-024-00231-3
- By:
- Publication type:
- Article
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1251675
- By:
- Publication type:
- Article
GRM7 variants confer susceptibility to age-related hearing impairment.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 4, p. 785, doi. 10.1093/hmg/ddn402
- By:
- Publication type:
- Article
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 159, doi. 10.1093/hmg/ddm292
- By:
- Publication type:
- Article
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 15, p. 1872, doi. 10.1093/hmg/ddm135
- By:
- Publication type:
- Article
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1709, doi. 10.1093/hmg/10.16.1709
- By:
- Publication type:
- Article
VariantDB: A flexible annotation and filtering portal for next generation sequencing data.
- Published in:
- Genome Medicine, 2014, v. 6, n. 10, p. 1, doi. 10.1186/s13073-014-0074-6
- By:
- Publication type:
- Article
Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 194, doi. 10.1038/2503
- By:
- Publication type:
- Article
pBRIT: gene prioritization by correlating functional and phenotypic annotations through integrative data fusion.
- Published in:
- Bioinformatics, 2018, v. 34, n. 13, p. 2254, doi. 10.1093/bioinformatics/bty079
- By:
- Publication type:
- Article
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1392527
- By:
- Publication type:
- Article
A Gene for Autosomal Dominant Late-Onset Progressive Non-Syndromic Hearing Loss, DFNA10, Maps to Chromosome 6.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 853, doi. 10.1093/hmg/5.6.853
- By:
- Publication type:
- Article
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2159
- By:
- Publication type:
- Article
Host genetic factors associated to proviral load in Peruvian HTLV-1 infected.
- Published in:
- 2011
- By:
- Publication type:
- Abstract
HLA-G 14 bp insertion/deletion polymorphism is not associated to proviral load levels and presence of HAM/TSP in Peruvian HTLV-1 infected individuals.
- Published in:
- 2011
- By:
- Publication type:
- Abstract