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First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
- Published in:
- Audiology & Neurotology, 2021, v. 26, n. 4, p. 226, doi. 10.1159/000510695
- By:
- Publication type:
- Article
Isolation and culture of human primary keratinocytes—a methods review.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 2, p. 107, doi. 10.1111/exd.13860
- By:
- Publication type:
- Article
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17496, doi. 10.3390/ijms242417496
- By:
- Publication type:
- Article
Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in Children after Cochlear Implantation.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3714, doi. 10.3390/ijms24043714
- By:
- Publication type:
- Article
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13343, doi. 10.3390/ijms232113343
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- Publication type:
- Article
Searching for the Molecular Basis of Partial Deafness.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6029, doi. 10.3390/ijms23116029
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- Publication type:
- Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
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- Publication type:
- Article
Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3430, doi. 10.3390/ijms21103430
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- Publication type:
- Article
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0499-z
- By:
- Publication type:
- Article
Human Papillomavirus Type 8 Interferes with a Novel C/EBPβ-Mediated Mechanism of Keratinocyte CCL20 Chemokine Expression and Langerhans Cell Migration.
- Published in:
- PLoS Pathogens, 2012, v. 8, n. 7, p. 1, doi. 10.1371/journal.ppat.1002833
- By:
- Publication type:
- Article
Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment.
- Published in:
- Molecular Neurobiology, 2022, v. 59, n. 4, p. 2190, doi. 10.1007/s12035-022-02732-7
- By:
- Publication type:
- Article
Functional Polymorphism of MMP9 and BDNF as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A Retrospective Cohort Analysis.
- Published in:
- Trends in Hearing, 2021, p. 1, doi. 10.1177/23312165211002140
- By:
- Publication type:
- Article
Functional Polymorphism of MMP9 and BDNF as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A Retrospective Cohort Analysis.
- Published in:
- Trends in Hearing, 2021, p. 1, doi. 10.1177/23312165211002140
- By:
- Publication type:
- Article
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
- Published in:
- Audiology Research, 2023, v. 13, n. 3, p. 341, doi. 10.3390/audiolres13030029
- By:
- Publication type:
- Article
The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 335, doi. 10.3390/genes14020335
- By:
- Publication type:
- Article
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1060, doi. 10.3390/genes11091060
- By:
- Publication type:
- Article
High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 2, p. e171, doi. 10.1111/aos.14533
- By:
- Publication type:
- Article
PATHOLOGY OF MITOCHONDRIA IN MELAS SYNDROME: AN ULTRASTRUCTURAL STUDY.
- Published in:
- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2017, v. 68, n. 2, p. 173, doi. 10.5114/PJP.2017.65021
- By:
- Publication type:
- Article
Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2018, v. 256, n. 11, p. 2127, doi. 10.1007/s00417-018-4075-9
- By:
- Publication type:
- Article
Maternally inherited diabetes and deafness (MIDD) syndrome with m.3243A> G mutation associated with renal failure -- a case report.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
- Published in:
- Audiology & Neurotology, 2023, v. 28, n. 5, p. 327, doi. 10.1159/000529464
- By:
- Publication type:
- Article
Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 445, doi. 10.1007/s00439-022-02443-y
- By:
- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
- By:
- Publication type:
- Article
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89645-y
- By:
- Publication type:
- Article
Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPβ to Induce Pro-Inflammatory S100A8/A9 Proteins.
- Published in:
- Frontiers in Microbiology, 2018, p. 1, doi. 10.3389/fmicb.2018.00392
- By:
- Publication type:
- Article
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 5, p. 693, doi. 10.1007/s00431-014-2452-x
- By:
- Publication type:
- Article
Funkcjonalna charakterystyka białka UBIAD1 - punktu węzłowego w syntezie witaminy K i cholesterolu - od dystrofii rogówki do chorób cywilizacyjnych.
- Published in:
- Advances in Hygiene & Experimental Medicine / Postepy Higieny i Medycyny Doswiadczalnej, 2018, v. 72, p. 116, doi. 10.5604/01.3001.0011.6388
- By:
- Publication type:
- Article
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183866
- By:
- Publication type:
- Article
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0166618
- By:
- Publication type:
- Article
Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation.
- Published in:
- Metabolic Brain Disease, 2020, v. 35, n. 8, p. 1317, doi. 10.1007/s11011-020-00605-3
- By:
- Publication type:
- Article
Evidence Against RAB40 AL Being the Locus for Martin- Probst X-Linked Deafness-Intellectual Disability Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 10, p. 1171, doi. 10.1002/humu.22620
- By:
- Publication type:
- Article
MMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2023, v. 280, n. 10, p. 4361, doi. 10.1007/s00405-023-07924-y
- By:
- Publication type:
- Article
Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2018, v. 275, n. 8, p. 1979, doi. 10.1007/s00405-018-5028-y
- By:
- Publication type:
- Article
Advances in genetic hearing loss: CIB2 gene.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2017, v. 274, n. 4, p. 1791, doi. 10.1007/s00405-016-4330-9
- By:
- Publication type:
- Article
Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 228, doi. 10.3390/jcm9010228
- By:
- Publication type:
- Article
Analysis of major otosclerosis-associated variants in RELN and TGFB1 genes in Polish patients.
- Published in:
- Archives of Medical Science, 2024, v. 20, n. 3, p. 962, doi. 10.5114/aoms.2020.99011
- By:
- Publication type:
- Article
Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The cutaneous beta human papillomavirus type 8 E6 protein induces CCL2 through the CEBPα/miR-203/p63 pathway to support an inflammatory microenvironment in epidermodysplasia verruciformis skin lesions.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2024, p. 01, doi. 10.3389/fcimb.2024.1336492
- By:
- Publication type:
- Article
NEUROPLASTICITY AFTER COCHLEAR IMPLANTATION AS ASSESSED BY THE PLASMA LEVEL OF MMP-9 AND ITS GENETIC POLYMORPHISMS: A PROSPECTIVE STUDY OF CONGENITALLY DEAF CHILDREN.
- Published in:
- Journal of Hearing Science, 2022, v. 12, n. 3, p. 47, doi. 10.17430/JHS.2022.12.3.5
- By:
- Publication type:
- Article
POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A KNOWN TBC1D24 GENE ALTERATION.
- Published in:
- Journal of Hearing Science, 2021, v. 11, n. 4, p. 72, doi. 10.17430/JHS.2021.11.4.8
- By:
- Publication type:
- Article
REPORT ON THE 52<sup>ND</sup> EUROPEAN HUMAN GENETICS CONFERENCE, 15-18 JUNE 2019, GOTHENBURG, SWEDEN.
- Published in:
- Journal of Hearing Science, 2019, v. 9, n. 4, p. 61
- By:
- Publication type:
- Article
REPORT ON THE 51<sup>ST</sup> EUROPEAN HUMAN GENETICS CONFERENCE, 16-19 JUNE 2018, MILAN, ITALY.
- Published in:
- Journal of Hearing Science, 2018, v. 8, n. 3, p. 63
- By:
- Publication type:
- Article
POSTLINGWALNY NIEDOSLUCH ODBIORCZY SPOWODOWANY BARDZO RZADKIM PATOGENNYM WARIANTEM COCH.
- Published in:
- Journal of Hearing Science, 2018, v. 8, n. 1, p. 31, doi. 10.17430/1002738
- By:
- Publication type:
- Article
Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.
- Published in:
- Molecular Medicine Reports, 2018, v. 17, n. 1, p. 1782, doi. 10.3892/mmr.2017.8064
- By:
- Publication type:
- Article
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article