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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients.
- Published in:
- Human Genetics, 2006, v. 120, n. 5, p. 663, doi. 10.1007/s00439-006-0237-7
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- Publication type:
- Article
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 377, doi. 10.1007/s00439-002-0696-4
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- Publication type:
- Article
Cardiac surgery in the setting of trisomy 13.
- Published in:
- Cardiology in the Young, 2000, v. 10, n. 6, p. 560, doi. 10.1017/S1047951100008817
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- Publication type:
- Article
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 124
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- Publication type:
- Article
Association analysis identifies new risk loci for congenital heart disease in Chinese populations.
- Published in:
- Nature Communications, 2015, v. 6, n. 8, p. 8082, doi. 10.1038/ncomms9082
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- Publication type:
- Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
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- Publication type:
- Article
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 851, doi. 10.1038/sj.ejhg.5201057
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- Publication type:
- Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
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- Publication type:
- Article
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
- Published in:
- Nature Genetics, 2008, v. 40, n. 8, p. 949, doi. 10.1038/ng.187
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- Publication type:
- Article
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 413, doi. 10.1038/ng1217
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- Publication type:
- Article
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 497, doi. 10.1038/ng1129
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- Publication type:
- Article
Deletion of Complement Factor H-Related Genes CFHR1 and CFHR3 Is Associated with Atypical Hemolytic Uremic Syndrome.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 3, p. 0387, doi. 10.1371/journal.pgen.0030041
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- Publication type:
- Article
Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 9, p. 952, doi. 10.1007/s00467-003-1192-3
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- Publication type:
- Article
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0095453
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- Publication type:
- Article
A Nonsense Mutation in the <i>IKBKG</i> Gene in Mares with Incontinentia Pigmenti.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081625
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- Publication type:
- Article
Determining the Population Frequency of the <i>CFHR3/CFHR1</i> Deletion at 1q32.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060352
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- Publication type:
- Article
Inversin/Nephrocystin-2 Is Required for Fibroblast Polarity and Directional Cell Migration.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060193
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- Publication type:
- Article
Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation.
- Published in:
- PLoS ONE, 2009, v. 4, n. 3, p. 1, doi. 10.1371/journal.pone.0004978
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- Publication type:
- Article
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 42, doi. 10.1038/75578
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- Publication type:
- Article
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
- Published in:
- Nature Genetics, 2000, v. 24, n. 3, p. 283, doi. 10.1038/73508
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- Publication type:
- Article
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse.
- Published in:
- Nature Genetics, 1998, v. 20, n. 2, p. 149, doi. 10.1038/2450
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- Publication type:
- Article
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
- Published in:
- 2006
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- Publication type:
- journal article
Atypical Haemolytic Uraemic Syndrome Associated with a Hybrid Complement Gene.
- Published in:
- PLoS Medicine, 2006, v. 3, n. 10, p. 1957, doi. 10.1371/journal.pmed.0030431
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- Publication type:
- Article
A perspective on inversin
- Published in:
- Cell Biology International, 2004, v. 28, n. 2, p. 119, doi. 10.1016/j.cellbi.2003.11.009
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- Publication type:
- Article
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: Implications for disease heterogeneity.
- Published in:
- Kidney International, 2004, v. 66, n. 1, p. 10, doi. 10.1111/j.1523-1755.2004.00703.x
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- Publication type:
- Article
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.
- Published in:
- 2002
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- Publication type:
- journal article
Genetic studies into inherited and sporadic hemolytic uremic syndrome.
- Published in:
- 1998
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- Publication type:
- journal article
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
- Published in:
- BMC Medical Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2350-6-20
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- Publication type:
- Article
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling.
- Published in:
- Human Mutation, 2009, v. 30, n. 12, p. 1667, doi. 10.1002/humu.21117
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- Publication type:
- Article
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
- Published in:
- Human Mutation, 2008, v. 29, n. 7, p. 931, doi. 10.1002/humu.20778
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- Publication type:
- Article
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
- Published in:
- Human Mutation, 2006, v. 27, n. 3, p. 292, doi. 10.1002/humu.9408
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- Publication type:
- Article
Using population data for assessing next-generation sequencing performance.
- Published in:
- Bioinformatics, 2015, v. 31, n. 1, p. 56, doi. 10.1093/bioinformatics/btu606
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- Publication type:
- Article
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
- Published in:
- Clinical Kidney Journal, 2013, v. 6, n. 4, p. 410, doi. 10.1093/ckj/sft058
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- Publication type:
- Article
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 720, doi. 10.1002/humu.22030
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- Publication type:
- Article
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4126, doi. 10.1093/hmg/ddv152
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- Publication type:
- Article
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1566, doi. 10.1002/ajmg.a.38228
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- Publication type:
- Article
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development.
- Published in:
- Congenital Heart Disease, 2015, v. 10, n. 3, p. 193, doi. 10.1111/chd.12179
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- Publication type:
- Article
Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3345, doi. 10.1093/hmg/11.26.3345
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- Publication type:
- Article
Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 6, p. 1027
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- Publication type:
- Article
Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2099
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- Publication type:
- Article
Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1577
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- Publication type:
- Article
Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.
- Published in:
- BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-57
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- Publication type:
- Article
Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus.
- Published in:
- BMC Biology, 2011, v. 9, n. 1, p. 14, doi. 10.1186/1741-7007-9-14
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- Publication type:
- Article