Mark Consugar

Mark Consugar

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Mark Consugar

Mark Consugar

Publications by authors named "Mark Consugar"

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29Publications

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Serum molecular signature for proliferative diabetic retinopathy in Saudi patients with type 2 diabetes.

Mol Vis 2016 11;22:636-45. Epub 2016 Jun 11.

Vitreoretina Division, King Khaled Eye Specialist Hospital, Riyadh 11462, Kingdom of Saudi Arabia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4902182PMC
January 2018

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944PMC
June 2017

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.

PLoS One 2015 11;10(11):e0142614. Epub 2015 Nov 11.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641726PMC
June 2016

Targeted exon sequencing in Usher syndrome type I.

Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. Epub 2014 Dec 2.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1167/iovs.14-15169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280089PMC
December 2014

Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.

Kidney Int 2014 Feb 12;85(2):383-92. Epub 2013 Jun 12.

1] Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA [2] Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/ki.2013.227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883953PMC
February 2014

Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes.

BMC Genomics 2013 Jul 18;14:486. Epub 2013 Jul 18.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1186/1471-2164-14-486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924432PMC
July 2013

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.

Discov Med 2012 Dec;14(79):389-99

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.discoverymedicine.com/Marni-J-Falk/files/2013/01/
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923327PMC
December 2012

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

Hum Genet 2007 Jun 22;121(5):591-9. Epub 2007 Mar 22.

Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00439-007-0341-3DOI Listing
June 2007

Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.

J Am Soc Nephrol 2006 Apr;17(4):1015-25

Harvard Institutes of Medicine, Suite 520, 77 Avenue Louis Pasteur, Boston, MA 02115, USA.

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http://dx.doi.org/10.1681/ASN.2005080830DOI Listing
April 2006

Self-hydroxylation of perbenzoic acids at a nonheme iron(II) center.

Chem Commun (Camb) 2005 Dec 20(45):5644-6. Epub 2005 Oct 20.

Department of Chemistry, Division of Nano Sciences and Center for Biomimetic Systems, Ewha Womans University, Seoul, 120-750, Korea.

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http://dx.doi.org/10.1039/b511302dDOI Listing
December 2005

The ENOS polymorphism is not associated with severity of renal disease in polycystic kidney disease 1.

Am J Kidney Dis 2003 Jan;41(1):90-4

Division of Nephrology and Section of Biostatistics, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1053/ajkd.2003.50027DOI Listing
January 2003