Suchergebnisse - "Vestibular Diseases genetics"

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Autoren: Veronika Vaclavik Aurelie Navarro Alain Jacot-Guillarmod et al.

Quelle: Graefes Arch Clin Exp Ophthalmol
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, vol. 262, no. 6, pp. 1737-1744

Schlagwörter: Male, Fundus Oculi, Visual Acuity, DNA, Hematologic Diseases, Multimodal Imaging, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, Macular Degeneration, Phenotype, Vestibular Diseases, Face, Electroretinography, Retinal Disorders, Humans, Abnormalities, Multiple, Female, Fluorescein Angiography, Vestibular Diseases/genetics, Vestibular Diseases/diagnosis, Vestibular Diseases/physiopathology, Face/abnormalities, Hematologic Diseases/genetics, Hematologic Diseases/diagnosis, Hematologic Diseases/physiopathology, Tomography, Optical Coherence/methods, Abnormalities, Multiple/genetics, Abnormalities, Multiple/diagnosis, Follow-Up Studies, Neoplasm Proteins/genetics, Fluorescein Angiography/methods, DNA-Binding Proteins/genetics, Macular Degeneration/genetics, Macular Degeneration/diagnosis, Macular Degeneration/physiopathology, Neck, DNA/genetics, Exome Sequencing, DNA Mutational Analysis, Macula Lutea/pathology, Time Factors, Adult, Adolescent, KMTD2 gene, Adaptive optics, Autofluorescence imaging, Dystrophy, Kabuki syndrome, Macula, Multimodal imaging, Retinal imaging, Tomography, Optical Coherence

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38206414
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A1C745767A8A5
https://serval.unil.ch/resource/serval:BIB_A1C745767A8A.P001/REF.pdf
https://serval.unil.ch/notice/serval:BIB_A1C745767A8A

Higher order interaction analysis quantifies co-ordination in the epigenome revealing novel biological relationships in Kabuki syndrome

Autoren: Cuvertino, Sara Garner, Terence Martirosian, Evgenii et al.

Quelle: Cuvertino, S, Garner, T, Martirosian, E, Walusimbi, B, Kimber, S J, Banka, S & Stevens, A 2025, 'Higher order interaction analysis quantifies co-ordination in the epigenome revealing novel biological relationships in Kabuki syndrome', Briefings in Bioinformatics, vol. 26, no. 1, bbae667. https://doi.org/10.1093/bib/bbae667

Schlagwörter: Humans, Hematologic Diseases/genetics, Face/abnormalities, Vestibular Diseases/genetics, DNA Methylation, Epigenome, Abnormalities, Multiple/genetics, CpG Islands, Epigenomics/methods, Epigenesis, Genetic, Gene Regulatory Networks

Verfügbarkeit: https://research.manchester.ac.uk/en/publications/3d3811a3-e90f-4ba9-bedd-3d6735844646
https://doi.org/10.1093/bib/bbae667

DNA methylation signature classification of rare disorders using publicly available methylation data

Autoren: Mathis Hildonen Marco Ferilli Tina Duelund Hjortshøj et al.

Quelle: Hildonen, M, Ferilli, M, Hjortshøj, T D, Dunø, M, Risom, L, Bak, M, Ek, J, Møller, R S, Ciolfi, A, Tartaglia, M & Tümer, Z 2023, ' DNA methylation signature classification of rare disorders using publicly available methylation data ', Clinical Genetics, vol. 103, no. 6, pp. 688-692 . https://doi.org/10.1111/cge.14304

Schlagwörter: 0301 basic medicine, Mendelian disorders, 0303 health sciences, Kabuki syndrome, epigenetics, Hematologic Diseases/genetics, KMT2D, DNA Methylation, Hematologic Diseases, Vestibular Diseases/genetics, episignature, 03 medical and health sciences, Vestibular Diseases, Face, Multiple/genetics, Humans, Abnormalities, Multiple, Abnormalities, rare disorders, VUS classification, mendelian disorders

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/36705342
https://curis.ku.dk/ws/files/363269704/Clinical_Genetics_2023_Hildonen.pdf
https://portal.findresearcher.sdu.dk/da/publications/6ef2c65d-44e3-4bcf-b55a-444161ce9cdd
https://doi.org/10.1111/cge.14304
https://hdl.handle.net/11573/1667240
https://doi.org/10.1111/cge.14304

Four cases of audio-vestibular disorders related to immunisation with SARS-CoV-2 mRNA vaccines

Autoren: Pierre Ekobena Laura E. Rothuizen Francesca Bedussi et al.

Quelle: International journal of audiology, vol. 62, no. 6, pp. 587-591

Schlagwörter: 03 medical and health sciences, COVID-19 Vaccines, 0302 clinical medicine, Vestibular Diseases, SARS-CoV-2, Humans, SARS-CoV-2/genetics, COVID-19 Vaccines/adverse effects, BNT162 Vaccine, COVID-19/prevention & control, Immunization, Vestibular Diseases/etiology, Vestibular Diseases/genetics, Deafness, RNA, Messenger, Adverse event, COVID-19 mRNA vaccines, hearing loss, immunisation, sensorineural, vestibular neuritis, COVID-19, 3. Good health

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/35510657
https://serval.unil.ch/notice/serval:BIB_2ACA564D1A62
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2ACA564D1A621
https://serval.unil.ch/resource/serval:BIB_2ACA564D1A62.P001/REF.pdf

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

Autoren: Rouxel, F. Yauy, K. Boursier, G. et al.

Schlagwörter: Abnormalities, Multiple/diagnosis, Multiple/genetics, Face/abnormalities, Facial Recognition, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Mutation, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics

Relation: European Journal of Human Genetics; https://iris.unil.ch/handle/iris/74780; serval:BIB_5FB010BE5972; 000720806000002

Verfügbarkeit: https://iris.unil.ch/handle/iris/74780
https://doi.org/10.1038/s41431-021-00994-8

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Autoren: Cocciadiferro, D. Augello, B. De Nittis, P. et al.

Schlagwörter: Abnormalities, Multiple/enzymology, Multiple/genetics, Computer Simulation, DNA-Binding Proteins/genetics, DNA-Binding Proteins/metabolism, Face/abnormalities, Hematologic Diseases/enzymology, Hematologic Diseases/genetics, Histone Demethylases/genetics, Humans, Models, Molecular, Mutation, Missense, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Nuclear Proteins/genetics, Protein Conformation, Sequence Analysis, Protein, Vestibular Diseases/enzymology, Vestibular Diseases/genetics

Relation: Human Molecular Genetics; https://iris.unil.ch/handle/iris/120145; serval:BIB_185B007DFEA7; 000452534100001

Verfügbarkeit: https://iris.unil.ch/handle/iris/120145
https://doi.org/10.1093/hmg/ddy241

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

Autoren: Geraldine Malone Siddharth Banka William G. Newman et al.

Quelle: Faundes, V, Malone, G, Newman, W G & Banka, S 2019, 'A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population', Journal of Human Genetics, vol. 64, no. 2, pp. 161-170. https://doi.org/10.1038/s10038-018-0536-6

Schlagwörter: 0301 basic medicine, Lydia Becker Institute, Hematologic Diseases/genetics, Population, Mutation, Missense, 03 medical and health sciences, Neoplasm Proteins/genetics, Abnormalities, Multiple/genetics, Neoplasms, Genetics, Humans, Abnormalities, Multiple, Genetics (clinical), 0303 health sciences, Face/abnormalities, Prognosis, Hematologic Diseases, Vestibular Diseases/genetics, Neoplasm Proteins, 3. Good health, DNA-Binding Proteins, Genetics, Population, Phenotype, Vestibular Diseases, Case-Control Studies, Face, Multiple/genetics, Mutation, Abnormalities, Missense, Neoplasms/epidemiology, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, name=Lydia Becker Institute, DNA-Binding Proteins/genetics

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.research.manchester.ac.uk/portal/files/82717398/8992_1_merged_1539187126.pdf
https://pubmed.ncbi.nlm.nih.gov/30459467
https://research.manchester.ac.uk/en/publications/5a32efa7-781d-4061-b860-b54c00df8792
https://doi.org/10.1038/s10038-018-0536-6
https://www.nature.com/articles/s10038-018-0536-6
https://pesquisa.bvsalud.org/sms/resource/pt/mdl-30459467
https://pubmed.ncbi.nlm.nih.gov/30459467/
https://www.research.manchester.ac.uk/portal/files/82717398/8992_1_merged_1539187126.pdf
https://www.ncbi.nlm.nih.gov/pubmed/30459467
https://www.research.manchester.ac.uk/portal/en/publications/a-comparative-analysis-of-kmt2d-missense-variants-in-kabuki-syndrome-cancers-and-the-general-population(5a32efa7-781d-4061-b860-b54c00df8792).html
https://research.manchester.ac.uk/en/publications/5a32efa7-781d-4061-b860-b54c00df8792
https://doi.org/10.1038/s10038-018-0536-6
https://pure.manchester.ac.uk/ws/files/82717398/8992_1_merged_1539187126.pdf

NovelCOCHp.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion

Autoren: Eun Jin Yang Jinsei Jung Min Goo Lee et al.

Weitere Verfasser: Eun Jin Yang Jinsei Jung Min Goo Lee et al.

Quelle: Human Mutation. 36:1168-1175

Schlagwörter: Adult, 0301 basic medicine, Vestibular Diseases/metabolism, Extracellular Matrix Proteins/chemistry, Hearing Loss, Sensorineural, Amino Acid Substitution, Sensorineural/diagnosis, Mutation, Vestibular Diseases/diagnosis, post-translational cleavage, Extracellular Matrix Proteins/metabolism, Cell Line, 03 medical and health sciences, Humans, Dominant, Amino Acid Sequence, Hearing Loss, Codon, Tomography, Protein Processing, cochlin, Genes, Dominant, Extracellular Matrix Proteins, 0303 health sciences, Hearing Tests, aggrecanase, Extracellular Matrix Proteins/genetics, Sensorineural/genetics, Post-Translational, Vestibular Diseases/genetics, High-Throughput Nucleotide Sequencing, Middle Aged, Magnetic Resonance Imaging, X-Ray Computed, Pedigree, Protein Transport, Sensorineural/metabolism, Genes, DFNA9, Proteolysis, Protein Multimerization, Tomography, X-Ray Computed, Protein Processing, Post-Translational

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/26256111
https://www.onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22855
https://www.ncbi.nlm.nih.gov/pubmed/26256111
https://ir.ymlib.yonsei.ac.kr/handle/22282913/156828
https://pubmed.ncbi.nlm.nih.gov/26256111/
https://onlinelibrary.wiley.com/doi/10.1002/humu.22855/abstract
http://europepmc.org/abstract/MED/26256111

An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice

Autoren: Melanie Bahlo Louise H. Williams Michael J. Kuiper et al.

Quelle: Manji, S S M, Miller, K A, Williams, L H, Andreasen, L, Siboe, M, Rose, E, Bahlo, M, Kuiper, M & Dahl, H-H M 2011, 'An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice', The American Journal of Pathology, vol. 179, no. 2, pp. 903-14. https://doi.org/10.1016/j.ajpath.2011.04.002

Schlagwörter: Ethylnitrosourea/pharmacology, Models, Molecular, 0301 basic medicine, Protein Conformation, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Hearing Loss, Sensorineural/congenital, Mice, Transgenic, Mice, 03 medical and health sciences, Hearing, Animals, Humans, Amino Acid Sequence, Alleles, 0303 health sciences, Sequence Homology, Amino Acid, Cadherins, Vestibular Diseases/genetics, Vestibular Diseases, Cadherins/chemistry, Ethylnitrosourea, Mutation, Vestibule, Labyrinth, Vestibule, Labyrinth/pathology

Zugangs-URL: http://ajp.amjpathol.org/article/S0002944011004020/pdf
https://pubmed.ncbi.nlm.nih.gov/21689626
https://findanexpert.unimelb.edu.au/scholarlywork/334345-an-enu-induced-mutation-of-cdh23-causes-congenital-hearing-loss--but-no-vestibular-dysfunction--in-mice
https://www.sciencedirect.com/science/article/pii/S0002944011004020
https://pubmed.ncbi.nlm.nih.gov/21689626/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157152/
http://europepmc.org/articles/PMC3157152
https://pure.au.dk/portal/en/publications/add1d7fe-82a1-4f80-9193-518b33c767fa
https://doi.org/10.1016/j.ajpath.2011.04.002

Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.

Autoren: Traschütz, Andreas Heindl, Felix Strupp, Michael et al.

Quelle: Neurology 101(10), e1001 - e1013 (2023). doi:10.1212/WNL.0000000000207553

Schlagwörter: info:eu-repo/classification/ddc/610, Humans, Bilateral Vestibulopathy: genetics, Bilateral Vestibulopathy: diagnosis, Dysarthria, Cerebellar Ataxia: diagnosis, Ataxia, Vestibular Diseases: genetics, Phenotype, Reflex, Abnormal

Geographisches Schlagwort: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0028-3878; info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:37460231; https://pub.dzne.de/record/263799

Verfügbarkeit: https://pub.dzne.de/record/263799
https://pub.dzne.de/search?p=id:%22DZNE-2023-00885%22

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Autoren: Paulussen, A.D.C. Stegmann, A.P.A. Blok, M.J. et al.

Weitere Verfasser: Paulussen, A.D.C. Stegmann, A.P.A. Blok, M.J. et al.

Quelle: Human Mutation. 32:E2018-E2025

Schlagwörter: Male, 0301 basic medicine, Hematologic Diseases/genetics, PROTEIN LYSINE METHYLTRANSFERASES, 03 medical and health sciences, Neoplasm Proteins/genetics, EARS, Abnormalities, Multiple/genetics, Humans, histone methyl transferase, Abnormalities, Multiple, EMC MGC-02-96-01, 0303 health sciences, Kabuki syndrome, MAKE-UP-SYNDROME, Face/abnormalities, GENE, Hematologic Diseases, Vestibular Diseases/genetics, Neoplasm Proteins, DNA-Binding Proteins, Vestibular Diseases, KS, Face, Mutation, MLL2, GROWTH, Female, mutation, DNA-Binding Proteins/genetics, MENTAL-RETARDATION

Zugangs-URL: https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/humu.21416
https://pubmed.ncbi.nlm.nih.gov/21280141
https://www.narcis.nl/publication/RecordID/oai%3Ascholarlypublications.universiteitleiden.nl%3Aitem_3008537
http://onlinelibrary.wiley.com/doi/10.1002/humu.21416/abstract
https://onlinelibrary.wiley.com/doi/10.1002/humu.21416
https://research.rug.nl/en/publications/mll2-mutation-spectrum-in-45-patients-with-kabuki-syndrome
https://repub.eur.nl/pub/31620/
http://doi.wiley.com/10.1002/humu.21416
https://hdl.handle.net/1887/108693
https://hdl.handle.net/1887/97248
https://biblio.vub.ac.be/vubir/mll2-mutation-spectrum-in-45-patients-with-kabuki-syndrome(76d0f47d-4b9a-48bc-9d0e-4568dff3e3de).html

Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11)

Autoren: DI LEVA F D'ADAMO P CUBELLIS, MARIA VITTORIA et al.

Weitere Verfasser: DI LEVA F D'ADAMO P CUBELLIS, MARIA VITTORIA et al.

Quelle: Audiology & neuro-otology
11 (2006): 157–164. doi:10.1159/000091199
info:cnr-pdr/source/autori:Di Leva F.; D'Adamo P.; Cubellis M.V.; D'Eustacchio A.; Errichiello M.; Saulino C.; Auletta G.; Giannini P.; Donaudy F.; Ciccodicola A.; Gasparini P.; Franze A.; Marciano E./titolo:Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)/doi:10.1159%2F000091199/rivista:Audiology & neuro-otology (Print)/anno:2006/pagina_da:157/pagina_a:164/intervallo_pagine:157–164/volume:11

Schlagwörter: Male, Models, Molecular, 0301 basic medicine, Myosins: chemistry, Vestibular Diseases: genetics, Genotype, Hearing Loss, Sensorineural, Molecular Sequence Data, Myosin, Mutation, Missense, Chromosome Disorders, Sensorineural, Myosins, Myosins: genetic, Sensorineural: genetic, 03 medical and health sciences, Dyneins: chemistry, Myosin VIIA, dominant hearing loss, missense mutation, molecular modelling, motor head domain, myosin VIIA, Humans, Missense mutation, Amino Acid Sequence, Hearing Lo, Vestibular Disease, 0303 health sciences, Base Sequence, Auditory Threshold, Chromosome Disorders: genetics, Chromosome Mapping, Dyneins, Dyneins: genetics, Female, Hearing Loss, Missense, Missense: genetics, Models, Molecular, Mutation, Myosins: genetics, Pedigree, Sensorineural: genetics, Vestibular Diseases, Vestibular Diseases: complications, Dynein, Dominant hearing loss, Molecular modelling, Motor head domain, Chromosome Disorder, Vestibular Diseases: complication, Myosin VIIa, Chromosome Disorders: genetic, Missense: genetic, Dyneins: genetic, Human, Model

Dateibeschreibung: STAMPA; application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/16449806
http://hdl.handle.net/11588/106777
http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=AUD2006011003157
http://hdl.handle.net/11588/364791
http://hdl.handle.net/11368/1695588
http://www.ncbi.nlm.nih.gov/pubmed/16449806
https://arts.units.it/handle/11368/1695588
https://europepmc.org/article/MED/16449806
https://www.ncbi.nlm.nih.gov/pubmed/16449806
http://europepmc.org/abstract/MED/16449806
https://core.ac.uk/display/53698750
https://moh-it.pure.elsevier.com/en/publications/identification-of-a-novel-mutation-in-the-myosin-viia-motor-domai
https://hdl.handle.net/20.500.14243/37963
https://doi.org/10.1159/000091199
http://www.ncbi.nlm.nih.gov/pubmed/16449806
https://doi.org/10.1159/000091199
https://hdl.handle.net/11368/1695588
https://hdl.handle.net/11367/81334
https://doi.org/10.1159/000091199
https://hdl.handle.net/11588/106777
http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=AUD2006011003157
https://doi.org/10.1159/000091199
https://hdl.handle.net/11588/364791

Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)

Autoren: Pennings, Ronald J E Topsakal, Vedat Astuto, Lisa et al.

Weitere Verfasser: Pennings, Ronald J E Topsakal, Vedat Astuto, Lisa et al.

Quelle: Otology & Neurotology, 25, 5, pp. 699-706

Schlagwörter: Adult, Male, 0301 basic medicine, Genotype, Retinitis Pigmentosa/genetics, Hearing Loss, Sensorineural, Mutation, Missense, Cadherin Related Proteins, Diagnostic Techniques, Ophthalmological, Consanguinity, 03 medical and health sciences, UMCN 3.3: Neurosensory disorders, Humans, Cadherins/genetics, Electronystagmography, Reflex, Vestibulo-Ocular, Syndrome, Middle Aged, syndrome, Cadherins, Vestibular Diseases/genetics, Pedigree, 3. Good health, Vestibular Diseases, Linear Models, Audiometry, Pure-Tone, Female, linear models, Hearing Loss, Sensorineural/diagnosis, Retinitis Pigmentosa

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/15353998
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/59104
https://doi.org/10.1097/00129492-200409000-00009
https://nebraska.pure.elsevier.com/en/publications/variable-clinical-features-in-patients-with-cdh23-mutations-ush1d
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F59104
https://experts.nebraska.edu/en/publications/variable-clinical-features-in-patients-with-cdh23-mutations-ush1d
https://www.ncbi.nlm.nih.gov/pubmed/15353998
http://journals.lww.com/00129492-200409000-00009
https://pubmed.ncbi.nlm.nih.gov/15353998/
https://hdl.handle.net/2066/59104
https://repository.ubn.ru.nl//bitstream/handle/2066/59104/59104.pdf

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Autoren: Makrythanasis, P. van Bon, B.W. Steehouwer, M. et al.

Schlagwörter: Abnormalities, Multiple/diagnosis, Multiple/genetics, DNA-Binding Proteins/genetics, Face/abnormalities, Facies, Female, Genetic Association Studies, Hematologic Diseases/diagnosis, Hematologic Diseases/genetics, Humans, Male, Mutation, Neoplasm Proteins/genetics, Phenotype, Sequence Analysis, DNA, Vestibular Diseases/diagnosis, Vestibular Diseases/genetics, Kabuki syndrome, MLL2, Niikawa-Kuroki syndrome, genotype-phenotype correlation

Relation: Clinical Genetics; https://iris.unil.ch/handle/iris/234948; serval:BIB_F7CFC1017987; 000330092900004

Verfügbarkeit: https://iris.unil.ch/handle/iris/234948
https://doi.org/10.1111/cge.12081