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Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Gene, 2013-09, Vol.527 (2), p.537-540

2013

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Efficient Detection of Point Mutations on Color-Coded Strands of Target DNA

Proceedings of the National Academy of Sciences - PNAS, 1994-03, Vol.91 (5), p.1873-1877

1994

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A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Nature genetics, 2000-09, Vol.26 (1), p.51-55

2000

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Inactivation of NADPH oxidase organizer 1 Results in Severe Imbalance

Current biology, 2006-01, Vol.16 (2), p.208-213

2006

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Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

Mammalian genome, 2000-11, Vol.11 (11), p.960

2000

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Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

The Journal of clinical investigation, 1995-01, Vol.95 (1), p.350-359

1995

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Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22

Proceedings of the National Academy of Sciences - PNAS, 2002-04, Vol.99 (9), p.6240-6245

2002

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Characterization of Otoconin-95, the Major Protein of Murine Otoconia, Provides Insights into the Formation of these Inner Ear Biominerals

Proceedings of the National Academy of Sciences - PNAS, 1999-01, Vol.96 (2), p.529-534

1999

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Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Nature genetics, 2001-11, Vol.29 (3), p.345-349

2001

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Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

Human genetics, 2002-07, Vol.111 (1), p.26-30

2002

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Detection of Mutations by Fluorescence‐Assisted Mismatch Analysis (FAMA)

Current Protocols in Human Genetics, 2001-05, Vol.12 (1), p.7.8.1-7.8.12

2001

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Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema

American journal of human genetics, 1996, Vol.59 (2), p.308-319

1996

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Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema

American journal of human genetics, 1996-08, Vol.59 (2), p.308-319

1996

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Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme

The Journal of biological chemistry, 2000-12, Vol.275 (51), p.40036-40041

2000

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COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization (∗)

The Journal of biological chemistry, 1995-02, Vol.270 (6), p.2579-2587

1995

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Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Human mutation, 2001, Vol.17 (1), p.34-41

2001

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Initial characterization of kinocilin, a protein of the hair cell kinocilium

Hearing research, 2005-05, Vol.203 (1), p.144-153

2005

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C1 inhibitor mutations which affect intracellular transport and secretion in type I hereditary angioedema

Behring Institute Mitteilungen, 1993-12 (93), p.120

1993

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Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

Mammalian genome, 2000-11, Vol.11 (11), p.961-966

2000

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Efficient detection of point mutations on color-codedstrands of target DNA

Proceedings of the National Academy of Sciences - PNAS, 1994-03, Vol.91 (5), p.1873-1877

1994

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Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens

Journal of interferon & cytokine research, 1997-10, Vol.17 (10), p.637-645

1997

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C1-inhibitor mutations in hereditary angioedema and their effect on intracellular transport and protein stability

Molecular immunology, 1993-09, Vol.30, p.59-59

1993

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Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Efficient Detection of Point Mutations on Color-Coded Strands of Target DNA

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Inactivation of NADPH oxidase organizer 1 Results in Severe Imbalance

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22

Characterization of Otoconin-95, the Major Protein of Murine Otoconia, Provides Insights into the Formation of these Inner Ear Biominerals

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

Detection of Mutations by Fluorescence‐Assisted Mismatch Analysis (FAMA)

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angioedema

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema

Fdp, a new fibrocyte-derived protein related to MIA/CD-RAP, has an in vitro effect on the early differentiation of the inner ear mesenchyme

COOH-terminal Substitutions in the Serpin C1 Inhibitor That Cause Loop Overinsertion and Subsequent Multimerization (∗)

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis

Initial characterization of kinocilin, a protein of the hair cell kinocilium

C1 inhibitor mutations which affect intracellular transport and secretion in type I hereditary angioedema

Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

Efficient detection of point mutations on color-codedstrands of target DNA

Novel variants of human IFN-alpha detected in tumor cell lines and biopsy specimens

C1-inhibitor mutations in hereditary angioedema and their effect on intracellular transport and protein stability

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