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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.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 102, doi. 10.1038/jhg.2012.143
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- Publication type:
- Article
Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33.
- Published in:
- 2010
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- Publication type:
- Report
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
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
- Published in:
- Human Genetics, 2007, v. 122, n. 3/4, p. 293, doi. 10.1007/s00439-007-0395-2
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- Publication type:
- Article
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3.
- Published in:
- Human Genetics, 2007, v. 120, n. 6, p. 789, doi. 10.1007/s00439-006-0275-1
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- Publication type:
- Article
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 356, doi. 10.1007/s00439-005-0054-4
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- Publication type:
- Article
DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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- Publication type:
- Article
In vitro preconditioning of insulin-producing cells with growth factors improves their survival and ability to release insulin.
- Published in:
- Journal of Biosciences, 2018, v. 43, n. 4, p. 649, doi. 10.1007/s12038-018-9796-8
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- Publication type:
- Article
Molecular and clinical studies of X-linked deafness among Pakistani families.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21
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- Publication type:
- Article
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043
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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.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
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- Publication type:
- Article
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
- Published in:
- Nature Communications, 2016, v. 7, n. 4, p. 1, doi. 10.1038/ncomms10953
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- Publication type:
- Article
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257
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- Publication type:
- Article
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
- Published in:
- 2020
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- Publication type:
- letter
Curcumin preconditioning enhances the efficacy of adipose-derived mesenchymal stem cells to accelerate healing of burn wounds.
- Published in:
- Burns & Trauma, 2021, v. 9, p. 1, doi. 10.1093/burnst/tkab021
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- Publication type:
- Article
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1 -Deficient Mice.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 845, doi. 10.3390/genes15070845
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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
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1122, doi. 10.3390/genes11101122
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- Publication type:
- Article
DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3.
- Published in:
- 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
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 474, doi. 10.1038/ejhg.2008.167
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- Publication type:
- Article
Mutations in FYCO1 identified in families with congenital cataracts.
- Published in:
- Molecular Vision, 2020, v. 26, p. 334
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- Publication type:
- Article
Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.
- Published in:
- Molecular Vision, 2020, v. 26, p. 14
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- Publication type:
- Article
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003774
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- Publication type:
- Article
Diazoxide preconditioning of endothelial progenitor cells from streptozotocin-induced type 1 diabetic rats improves their ability to repair diabetic cardiomyopathy.
- Published in:
- Molecular & Cellular Biochemistry, 2015, v. 410, n. 1/2, p. 267, doi. 10.1007/s11010-015-2560-6
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- Publication type:
- Article
CD44 is a marker for the outer pillar cells in the early postnatal mouse inner ear.
- Published in:
- 2010
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- Publication type:
- journal article
Lovastatin protects chondrocytes derived from Wharton's jelly of human cord against hydrogen-peroxide-induced in vitro injury.
- Published in:
- Cell & Tissue Research, 2013, v. 351, n. 3, p. 433, doi. 10.1007/s00441-012-1540-3
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- Publication type:
- Article
Human neonatal stem cell‐derived skin substitute improves healing of severe burn wounds in a rat model.
- Published in:
- Cell Biology International, 2019, v. 43, n. 2, p. 147, doi. 10.1002/cbin.11072
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- Publication type:
- Article
Whole genome sequencing data of multiple individuals of Pakistani descent.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41597-020-00664-2
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- Publication type:
- Article
Preconditioning diabetic mesenchymal stem cells with myogenic medium increases their ability to repair diabetic heart.
- Published in:
- Stem Cell Research & Therapy, 2013, v. 4, n. 3, p. 1, doi. 10.1186/scrt207
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- Publication type:
- Article
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 584, doi. 10.1111/cge.14514
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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
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00208-7
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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
Stromal cell derived factor-1alpha protects stem cell derived insulin-producing cells from glucotoxicity under high glucose conditions in-vitro and ameliorates drug induced diabetes in rats.
- Published in:
- Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-115
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- Publication type:
- Article
Mesenchymal stem cells and Interleukin-6 attenuate liver fibrosis in mice.
- Published in:
- Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-78
- By:
- Publication type:
- Article
Stromal cell derived factor-1alpha protects stem cell derived insulin-producing cells from glucotoxicity under high glucose conditions in-vitro and ameliorates drug induced diabetes in rats.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Mesenchymal stem cells and Interleukin-6 attenuate liver fibrosis in mice.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Pre-conditioned mesenchymal stem cells ameliorate renal ischemic injury in rats by augmented survival and engraftment.
- Published in:
- Journal of Translational Medicine, 2012, v. 10, n. 1, p. 243, doi. 10.1186/1479-5876-10-243
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- Publication type:
- Article