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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
- Published in:
- Human Genetics, 2008, v. 124, n. 3, p. 215, doi. 10.1007/s00439-008-0543-3
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- Publication type:
- Article
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
- Published in:
- Human Genetics, 2007, v. 122, n. 5, p. 445, doi. 10.1007/s00439-007-0418-z
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- Publication type:
- Article
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3.
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- Human Genetics, 2007, v. 120, n. 6, p. 789, doi. 10.1007/s00439-006-0275-1
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- Article
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
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- Human Genetics, 2005, v. 116, n. 5, p. 407, doi. 10.1007/s00439-004-1247-y
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- Publication type:
- Article
A new locus for nonsyndromic deafnessDFNB49maps to chromosome 5q12.3-q14.1.
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- Human Genetics, 2005, v. 116, n. 1/2, p. 17, doi. 10.1007/s00439-004-1205-8
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- Publication type:
- Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
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- Human Genetics, 2002, v. 110, n. 6, p. 527, doi. 10.1007/s00439-002-0732-4
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- Publication type:
- Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
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- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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- Publication type:
- Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 9, p. 641, doi. 10.1038/jhg.2013.85
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- Publication type:
- Article
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 102, doi. 10.1038/jhg.2012.143
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- Article
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
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- Journal of Bone & Mineral Research, 2019, v. 34, n. 2, p. 375, doi. 10.1002/jbmr.3594
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- Article
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.
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- Journal of Human Genetics, 2012, v. 57, n. 10, p. 633, doi. 10.1038/jhg.2012.79
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- Publication type:
- Article
Molecular and clinical studies of X-linked deafness among Pakistani families.
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- Journal of Human Genetics, 2011, v. 56, n. 10, p. 752, doi. 10.1038/jhg.2011.89
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- Publication type:
- Article
Molecular and clinical studies of X-linked deafness among Pakistani families.
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- Journal of Human Genetics, 2011, v. 56, n. 7, p. 534, doi. 10.1038/jhg.2011.55
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- Publication type:
- Article
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21
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- Publication type:
- Article
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
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- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289
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- Publication type:
- Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
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- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
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- Article
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/s41467-017-00061-1
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- Article
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1207, doi. 10.1038/ejhg.2014.266
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- Publication type:
- Article
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 473, doi. 10.1038/ejhg.2014.136
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- Article
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
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- 2020
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- Publication type:
- letter
Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts.
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- 2022
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- Publication type:
- Case Study
Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10655, doi. 10.3390/ijms221910655
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- Publication type:
- Article
Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.67361
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- Publication type:
- Article
A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
- Published in:
- 2024
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- Publication type:
- Case Study
Delineating the Molecular and Phenotypic Spectrum of the CNGA3 -Related Cone Photoreceptor Disorder in Pakistani Families.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 617, doi. 10.3390/genes13040617
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- Article
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
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- Genes, 2021, v. 12, n. 4, p. 492, doi. 10.3390/genes12040492
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- Publication type:
- Article
Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.
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- Genes, 2020, v. 11, n. 9, p. 978, doi. 10.3390/genes11090978
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- Article
Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.
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- Genes, 2019, v. 10, n. 12, p. 1031, doi. 10.3390/genes10121031
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- Publication type:
- Article
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 125, doi. 10.1038/ejhg.2009.121
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- Publication type:
- Article
Rare A2ML1 variants confer susceptibility to otitis media.
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- Nature Genetics, 2015, v. 47, n. 8, p. 917, doi. 10.1038/ng.3347
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- Publication type:
- Article
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1265, doi. 10.1038/ng.2426
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- Publication type:
- Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1335, doi. 10.1038/ng.245
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- Article
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
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- Molecular Vision, 2019, v. 25, p. 144
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- Publication type:
- Article
An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans.
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- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003774
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- Article
Whole genome sequencing data of multiple individuals of Pakistani descent.
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- Scientific Data, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41597-020-00664-2
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- Publication type:
- Article
Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 527, doi. 10.3390/genes9110527
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- Publication type:
- Article
Genetic Analysis of Pakistani Families Segregating Prelingual Hearing Loss through OtoSeq.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 2, p. P246, doi. 10.1177/0194599813496044a315
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- Publication type:
- Article
Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2013, v. 149, n. 3, p. 478, doi. 10.1177/0194599813493075
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- Publication type:
- Article
MEKK4 Signaling Regulates Sensory Cell Development and Function in the Mouse Inner Ear.
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- Journal of Neuroscience, 2016, v. 36, n. 4, p. 1347, doi. 10.1523/JNEUROSCI.1853-15.2016
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- Publication type:
- Article
CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24056-1
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- Publication type:
- Article
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 277, doi. 10.1038/ng842
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- Publication type:
- Article
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
- Published in:
- Nature Genetics, 2000, v. 26, n. 4, p. 431, doi. 10.1038/82558
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- Publication type:
- Article
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 649, doi. 10.1007/s00439-020-02238-z
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- Publication type:
- Article
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
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- Human Genetics, 2020, v. 139, n. 12, p. 1565, doi. 10.1007/s00439-020-02197-5
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- Publication type:
- Article
Mutation of ATF6 causes autosomal recessive achromatopsia.
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- Human Genetics, 2015, v. 134, n. 9, p. 941, doi. 10.1007/s00439-015-1571-4
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- Publication type:
- Article
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.
- Published in:
- Human Genetics, 2015, v. 134, n. 4, p. 423, doi. 10.1007/s00439-015-1532-y
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- Publication type:
- Article
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
- Published in:
- Human Genetics, 2011, v. 130, n. 6, p. 759, doi. 10.1007/s00439-011-1018-5
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- Publication type:
- Article
Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.
- Published in:
- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/5584788
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- Publication type:
- Article
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
- Published in:
- Scientific Reports, 2017, p. 44185, doi. 10.1038/srep44185
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- Publication type:
- Article
Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6.
- Published in:
- Pigment Cell & Melanoma Research, 2020, v. 33, n. 4, p. 556, doi. 10.1111/pcmr.12879
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- Publication type:
- Article