Found: 52
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0238-5
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- Publication type:
- Article
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
- Published in:
- 2015
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- Publication type:
- journal article
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-12
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- Publication type:
- Article
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
- Published in:
- 2014
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- Publication type:
- journal article
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
- Published in:
- 2012
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- Publication type:
- journal article
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 59, doi. 10.1186/1750-1172-7-59
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- Publication type:
- Article
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
A de novo GLI 3 mutation in a patient with acrocallosal syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1394, doi. 10.1002/ajmg.a.35874
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- Publication type:
- Article
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
- Published in:
- Nature Genetics, 2001, v. 27, n. 1, p. 108, doi. 10.1038/83667
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- Publication type:
- Article
Erbliche Netzhautdystrophien in Deutschland – Versorgungsstrukturelle und diagnostische Herausforderungen.
- Published in:
- Die Ophthalmologie, 2023, v. 120, n. 12, p. 1251, doi. 10.1007/s00347-023-01903-8
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- Publication type:
- Article
Diagnostic applications of next generation sequencing: working towards quality standards/Diagnostische Anwendung von Next Generation Sequencing: Auf dem Weg zu Qualitätsstandards.
- Published in:
- 2012
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- Publication type:
- Journal Article
The tectonic complex regulates membrane protein composition in the photoreceptor cilium.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41450-z
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- Publication type:
- Article
An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116680
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- Publication type:
- Article
Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111754
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- Publication type:
- Article
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 203, doi. 10.1007/s00439-006-0304-0
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- Publication type:
- Article
Tectonic gene mutations in patients with Joubert syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 616, doi. 10.1038/ejhg.2014.160
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- Publication type:
- Article
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 286, doi. 10.1038/ejhg.2013.150
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- Publication type:
- Article
Clinical utility gene card for: Usher syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 1, doi. 10.1038/ejhg.2011.15
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- Publication type:
- Article
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1076, doi. 10.1038/ejhg.2008.273
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- Publication type:
- Article
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 80, doi. 10.1038/ejhg.2008.143
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- Publication type:
- Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201391
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- Publication type:
- Article
Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification.
- Published in:
- Medizinische Genetik, 2020, p. 131, doi. 10.1515/medgen-2020-2023
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- Publication type:
- Article
NGS: Gestern, heute und morgen.
- Published in:
- 2019
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- Publication type:
- Editorial
Channelopathies in Ca<sub>v</sub>1.1, Ca<sub>v</sub>1.3, and Ca<sub>v</sub>1.4 voltage-gated L-type Ca<sup>2+</sup> channels.
- Published in:
- Pflügers Archiv: European Journal of Physiology, 2010, v. 460, n. 2, p. 361, doi. 10.1007/s00424-010-0800-x
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- Publication type:
- Article
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.
- Published in:
- 2018
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- Publication type:
- journal article
Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 10, p. 2473, doi. 10.1038/jid.2012.146
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- Publication type:
- Article
Sphingosine-1-phosphate phosphohydrolase 1 functionally antagonizes the microvascular effects of sphingosine kinase 1 and its metabolite sphingosine-1- phosphate.
- Published in:
- FASEB Journal, 2007, v. 21, n. 6, p. A843, doi. 10.1096/fasebj.21.6.a843-a
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- Publication type:
- Article
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 6, p. 779, doi. 10.1111/ceo.13516
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- Publication type:
- Article
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.
- Published in:
- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00130
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- Publication type:
- Article
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
- Published in:
- 2014
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- Publication type:
- Report
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 24, p. 2300, doi. 10.1093/hmg/ddab192
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- Publication type:
- Article
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 23, p. 2300, doi. 10.1093/hmg/ddab192
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- Publication type:
- Article
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2177, doi. 10.1093/hmg/ddt070
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- Publication type:
- Article
Extended mutation spectrum of Usher syndrome in Finland.
- Published in:
- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 4, p. 325, doi. 10.1111/j.1755-3768.2012.02397.x
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- Publication type:
- Article
Loss of Ca<sub>v</sub>1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.
- Published in:
- Nature Neuroscience, 2011, v. 14, n. 1, p. 77, doi. 10.1038/nn.2694
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- Publication type:
- Article
GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families.
- Published in:
- Pakistan Journal of Life & Social Sciences, 2014, v. 12, n. 3, p. 126
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- Publication type:
- Article
GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families.
- Published in:
- Pakistan Journal of Life & Social Sciences, 2014, v. 12, n. 3, p. 126
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- Publication type:
- Article
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 170, doi. 10.1002/humu.22934
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- Publication type:
- Article
Targeted and Genomewide NGS Data Disqualify Mutations in MYO1 A, the ' DFNA48 Gene', as a Cause of Deafness.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 565, doi. 10.1002/humu.22532
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- Publication type:
- Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 104, doi. 10.1002/humu.21634
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- Publication type:
- Article
Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 452, doi. 10.1002/humu.9526
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- Publication type:
- Article
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 571, doi. 10.1002/humu.20478
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- Publication type:
- Article
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss ( DFNA11).
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 274, doi. 10.1002/humu.9272
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- Publication type:
- Article
A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 6, p. 1, doi. 10.1101/mcs.a006213
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- Publication type:
- Article
Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 2, p. 368, doi. 10.1093/hmg/ddq473
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- Publication type:
- Article
Mutations in HPRP3, a third memberofpre-mRNA splicing factor genes, implicated inautosomal dominant retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 1, p. 87, doi. 10.1093/hmg/11.1.87
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- Publication type:
- Article
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
- Published in:
- Genes, 2020, v. 11, n. 2, p. 137, doi. 10.3390/genes11020137
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- Publication type:
- Article
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0207958
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- Publication type:
- Article
Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
- Published in:
- Human Mutation, 2002, v. 19, n. 3, p. 268, doi. 10.1002/humu.10049
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- Publication type:
- Article
Connexin 26 (GJB2) mutation in KID syndrome: An Egyptian patient.
- Published in:
- 2011
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- Publication type:
- Case Study