DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Journal of Medical Genetics

• Publication date

  2003-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.40.11.832PMID 14627674PMCID PMC1735311
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity

  2003cited by this paper
• Mulibrey Heart Disease: Clinical Manifestations, Long-Term Course, and Results of Pericardiectomy in a Series of 49 Patients Born Before 1985

  2003influential reference
• Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.

  2003cited by this paper
• KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential.

  2002cited by this paper
• The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder.

  2002cited by this paper
• Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

  2002cited by this paper
• A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

  2002cited by this paper
• Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

  2001cited by this paper
• Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis.

  2001cited by this paper
• Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

  2001cited by this paper
• Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

  2000cited by this paper
• Dominant modifier DFNM1 suppresses recessive deafness DFNB26

  2000cited by this paper
• Genomic structure and expression of human KCNJ9 (Kir3.3/GIRK3).

  2000cited by this paper
• Voltage-gated ion channels and hereditary disease.

  1999cited by this paper
• Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.

  1999cited by this paper
• Mulibrey nanism and Wilms tumor.

  1999cited by this paper
• Expression of an inwardly rectifying K+ channel, Kir4.1, in satellite cells of rat cochlear ganglia.

  1999cited by this paper
• The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

  1999cited by this paper
• Immunological identification of an inward rectifier K+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats

  1999cited by this paper
• Cloning and Characterization of Two K+ Inward Rectifier (Kir) 1.1 Potassium Channel Homologs from Human Kidney (Kir1.2 and Kir1.3)*

  1997cited by this paper
• An ATP-Dependent Inwardly Rectifying Potassium Channel, KAB-2 (Kir4.1), in Cochlear Stria Vascularis of Inner Ear: Its Specific Subcellular Localization and Correlation with the Formation of Endocochlear Potential

  1997cited by this paper
• Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

  1996cited by this paper
• A comprehensive genetic map of the human genome based on 5,264 microsatellites

  1996cited by this paper
• Na,K-ATPase alpha- and beta-isoforms in the developing cochlea of the mouse.

  1996cited by this paper
• Na,K-ATPase α- and β-isoforms in the developing cochlea of the mouse

  1996cited by this paper
• Mulibrey nanism: three additional patients and a review of 39 patients.

  1995cited by this paper
• Children Born Small for Gestational Age: Do They Catch Up?

  1995cited by this paper
• Hereditary Hearing Loss

  1994cited by this paper
• Natural growth in children born small for gestational age with and without catch‐up growth

  1994cited by this paper
• Evidence for calcium-binding proteins and calcium-dependent regulatory proteins in sensory cells of the organ of Corti.

  1993cited by this paper
• Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

  1993cited by this paper
• Genetic epidemiological studies of early-onset deafness in the U.S. school-age population.

  1993cited by this paper
• Cochlear Pathology in Presbycusis

  1993cited by this paper
• Genetic deafness.

  1992cited by this paper
• The development of normal feeding and swallowing.

  1991cited by this paper
• Genetic Epidemiology of Hearing Impairment

  1991cited by this paper
• Coordination of sucking, swallowing and breathing in the newborn: its relationship to infant feeding and normal development.

  1990cited by this paper
• Characterization and localization to human chromosome 1 of human fast-twitch skeletal muscle calsequestrin gene

  1990cited by this paper
• Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.

  1989cited by this paper
• Refsum's disease revealed by cardiac disorders.

  1989cited by this paper
• [Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome].

  1988cited by this paper
• Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

  1985cited by this paper
• [Mulibrey nanism in a Mexican child].

  1983cited by this paper
• A case of Mulibrey nanism with associated Wilms' tumor

  1980cited by this paper
• Phenotypic and genetic analysis of the Silver‐Russell syndrome

  1978cited by this paper
• Craniofacial and dental study of mulibrey nanism.

  1978cited by this paper
• Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).

  1976cited by this paper
• Growth failure with pericardial constriction. The syndrome of mulibrey nanism.

  1976cited by this paper
• The cardiopathy of mulibrey nanism, a new inherited syndrome.

  1974cited by this paper
• Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings.

  1974cited by this paper
• So-called mulibrey nanism with pericardial constriction.

  1973cited by this paper
• Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction.

  1973cited by this paper
• Mulibrey-nanism: dwarfism with muscle, liver, brain and eye involvement.

  1970cited by this paper

• Direct connexin-26 interactions with membrane proteins functionally relevant to the cochlea

  2025cites this paper
• Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

  2023cites this paper
• Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.

  2020cites this paper
• Genetic Hearing Loss and Gene Therapy

  2018cites this paper
• Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

  2018cites this paper
• Towards a gene regulatory network for otic and epibranchial specification

  2015cites this paper
• Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

  2015cites this paper
• Characterization of cochlear transcription, translation and energy extraction in aging and noise-induced pathology

  2014cites this paper
• Genetic basis of Y-linked hearing impairment.

  2013cites this paper
• Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family.

  2012cites this paper
• Genome-Wide Analysis of Binding Sites and Direct Target Genes of the Orphan Nuclear Receptor NR2F1/COUP-TFI

  2010cites this paper
• Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study

  2010cites this paper
• Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.

  2008influential citation
• Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

  2008cites this paper
• Audiometric profiles associated with genetic nonsyndromal hearing impairment: a review and phenotype analysis

  2007cites this paper
• Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 286 Clinical and Genetic Studies of Hearing Impairment

  2007cites this paper
• Audioprofiling identifies TECTA and GJB2‐related deafness segregating in a single extended pedigree

  2007influential citation
• Clinical and Genetic Studies of Hearing Impairment

  2007cites this paper
• Hereditary Hearing Impairment. Clinical and Genetic Aspects in DFNA5, DFNA9 and DFNA11.

  2007cites this paper
• Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.

  2005cites this paper