Found: 66
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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
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
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
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
- Published in:
- 2010
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- Publication type:
- journal article
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
- Published in:
- Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
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- Publication type:
- Article
Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2001, v. 251, p. I25, doi. 10.1007/PL00014197
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- Publication type:
- Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
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- Publication type:
- Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
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- Publication type:
- Article
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 262, doi. 10.1038/ng.2533
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- Publication type:
- Article
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 23, doi. 10.1038/ng.725
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- Publication type:
- Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
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- Publication type:
- Article
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 234, doi. 10.1038/ng.294
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- Publication type:
- Article
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
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- Publication type:
- Article
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1397, doi. 10.1038/ng1918
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- Publication type:
- Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
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- Publication type:
- Article
Erratum: Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
Mutations in different components of FGF signaling in LADD syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 414, doi. 10.1038/ng1757
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- Publication type:
- Article
Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112747
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- Publication type:
- Article
A Novel Large In-Frame Deletion within the <i>CACNA1F</i> Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076414
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- Publication type:
- Article
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
- Published in:
- Human Genetics, 2016, v. 135, n. 2, p. 157, doi. 10.1007/s00439-015-1619-5
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- Publication type:
- Article
Homozygous truncating PTPRF mutation causes athelia.
- Published in:
- Human Genetics, 2014, v. 133, n. 8, p. 1041, doi. 10.1007/s00439-014-1445-1
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- Publication type:
- Article
The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 29, doi. 10.1007/s00439-013-1351-y
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- Publication type:
- Article
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 209, doi. 10.1007/s00439-011-1062-1
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- Publication type:
- Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 51, doi. 10.1007/s00439-010-0823-6
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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
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198
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- Publication type:
- Article
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 162, doi. 10.1038/ejhg.2012.139
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- Publication type:
- Article
A large duplication involving the IHH locus mimics acrocallosal syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 639, doi. 10.1038/ejhg.2011.250
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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
Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 367, doi. 10.1038/sj.ejhg.5201980
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- Publication type:
- Article
A Novel OPA3 Mutation Revealed by Exome Sequencing.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 6, p. 783, doi. 10.1001/jamaneurol.2013.1174
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- Publication type:
- Article
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 282, doi. 10.1093/brain/aws293
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- Publication type:
- Article
Dysfunction of the MDM2/p53 axis is linked to premature aging.
- Published in:
- 2017
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- Publication type:
- journal article
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 32, doi. 10.1111/cge.13754
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- Publication type:
- Article
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 9, p. 2202, doi. 10.1038/jid.2013.153
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- Publication type:
- Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
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- Publication type:
- journal article
Mutations in CDK5 RAP2 cause Seckel syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 5, p. 467, doi. 10.1002/mgg3.158
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- Publication type:
- Article
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 8, p. 1036, doi. 10.1007/s00467-005-1977-7
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- Publication type:
- Article
A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 20, p. 4055, doi. 10.1093/hmg/ddx296
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- Publication type:
- Article
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022
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- Publication type:
- Article
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
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- Publication type:
- Article
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374
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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
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471
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- Publication type:
- Article
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2585, doi. 10.1093/hmg/ddr158
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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