Shay Tzur

Shay Tzur

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Shay Tzur

Publications by authors named "Shay Tzur"

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Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Neurochem Res 2019 Apr 9. Epub 2019 Apr 9.

Department of Genetic and Metabolic Diseases, Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, 9112001, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s11064-019-02786-5DOI Listing
April 2019

Big data analysis of human mitochondrial DNA substitution models: a regression approach.

BMC Genomics 2018 Oct 19;19(1):759. Epub 2018 Oct 19.

Department of Statistics and Operations Research, School of Mathematical Sciences, Tel-Aviv University, 6997801, Tel-Aviv, Israel.

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https://bmcgenomics.biomedcentral.com/articles/10.1186/s1286
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http://dx.doi.org/10.1186/s12864-018-5123-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195736PMC
October 2018

A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.

Eur J Paediatr Neurol 2018 May 30;22(3):516-524. Epub 2017 Dec 30.

Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva 4920235, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center- Beilinson Hospital, Petach Tikva 4941492, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva 4941492, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173164
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http://dx.doi.org/10.1016/j.ejpn.2017.12.017DOI Listing
May 2018

Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.

J Clin Endocrinol Metab 2017 12;102(12):4604-4614

Laboratory of Molecular Medicine, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Israel.

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http://dx.doi.org/10.1210/jc.2017-01592DOI Listing
December 2017

Strictly conserved tri-nucleotide motif "CAT" is associated with TAS DNA protein-binding sites in human mitochondrial DNA control region.

Mitochondrial DNA A DNA Mapp Seq Anal 2017 03 29;28(2):250-253. Epub 2015 Dec 29.

b Department of Statistics and Operations Research , Tel Aviv University , Tel Aviv , Israel.

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http://dx.doi.org/10.3109/19401736.2015.1118068DOI Listing
March 2017

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Eur J Hum Genet 2016 12 7;24(12):1792-1796. Epub 2016 Sep 7.

Departamento de Bioquımicay Biologıa Molecular, Facultad de Medicina, Instituto Universitario de Oncologıa-IUOPA, Universidad de Oviedo, Oviedo, Spain.

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http://dx.doi.org/10.1038/ejhg.2016.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117915PMC
December 2016

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Eur J Hum Genet 2016 11 22;24(11):1635-1638. Epub 2016 Jun 22.

Genomics Research Center, Gene by Gene, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2016.72DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110068PMC
November 2016

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Genet Res (Camb) 2016 06 6;98:e10. Epub 2016 Jun 6.

Sackler School of Medicine,Tel Aviv University,Israel.

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http://dx.doi.org/10.1017/S0016672316000070DOI Listing
June 2016

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Genet Res (Camb) 2016 05 13;98:e8. Epub 2016 May 13.

Genomics Research Center,Gene by Gene,Houston,Texas,USA.

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http://dx.doi.org/10.1017/S0016672316000045DOI Listing
May 2016

A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.

Blood Cells Mol Dis 2015 Dec 23;55(4):320-7. Epub 2015 Jul 23.

Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10799796150015
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http://dx.doi.org/10.1016/j.bcmd.2015.07.014DOI Listing
December 2015

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

Hum Mutat 2015 Apr 16;36(4):439-42. Epub 2015 Mar 16.

The Raphael Recanati Genetic Institute, Rabin Medical Center, Israel; Sackler School of Medicine, Tel Aviv University, Israel.

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http://dx.doi.org/10.1002/humu.22759DOI Listing
April 2015

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Eur J Paediatr Neurol 2015 Mar 29;19(2):240-2. Epub 2014 Nov 29.

Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, Israel; Felsenstein Medical Research Center, Petach Tikva, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.004DOI Listing
March 2015

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

J Clin Endocrinol Metab 2014 Oct 25;99(10):E2129-32. Epub 2014 Jul 25.

The Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes (L.d.V.), Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine (L.d.V., P.S.-Y., I.L., L.B.-V.), Tel Aviv University, Tel Aviv, Israel; Molecular Medicine Laboratory (D.M.B., S.T.), Rambam Health Care Campus, Haifa, Israel; Raphael Recanati Genetic Institute (D.M.B., L.B.-V.), Rabin Medical Center, Petach Tikva, Israel; Felsenstein Medical Research Center (P.S.-Y., I.L.), Petach Tikva, Israel; and Pediatric Genetics (L.B.-V.), Schneider Children's Medical Center of Israel, Petach Tikva; Israel.

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http://dx.doi.org/10.1210/jc.2014-1268DOI Listing
October 2014

Population genetics of chronic kidney disease: the evolving story of APOL1.

J Nephrol 2012 Sep-Oct;25(5):603-18

Division of Nephrology, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.5301/jn.5000179DOI Listing
February 2013

Possible incipient sympatric ecological speciation in blind mole rats (Spalax).

Proc Natl Acad Sci U S A 2013 Feb 28;110(7):2587-92. Epub 2013 Jan 28.

Institute of Evolution, University of Haifa, Haifa 31905, Israel.

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http://dx.doi.org/10.1073/pnas.1222588110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574902PMC
February 2013

Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations.

BMC Nephrol 2012 Oct 31;13:142. Epub 2012 Oct 31.

Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, Haifa, 31096, Israel.

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http://dx.doi.org/10.1186/1471-2369-13-142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519576PMC
October 2012

APOL1 allelic variants are associated with lower age of dialysis initiation and thereby increased dialysis vintage in African and Hispanic Americans with non-diabetic end-stage kidney disease.

Nephrol Dial Transplant 2012 Apr 22;27(4):1498-505. Epub 2012 Feb 22.

Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1093/ndt/gfr796DOI Listing
April 2012

APOL1 risk variants predict histopathology and progression to ESRD in HIV-related kidney disease.

J Am Soc Nephrol 2012 Feb 1;23(2):343-50. Epub 2011 Dec 1.

Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1681/ASN.2011060562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3269183PMC
February 2012

The population genetics of chronic kidney disease: insights from the MYH9-APOL1 locus.

Nat Rev Nephrol 2011 Jun 3;7(6):313-26. Epub 2011 May 3.

Department of Statistics and Operations Research, Tel Aviv University, Tel Aviv 69978, Israel.

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http://dx.doi.org/10.1038/nrneph.2011.52DOI Listing
June 2011