Justyna A Karolak

Justyna A Karolak

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Justyna A Karolak

Justyna A Karolak

Publications by authors named "Justyna A Karolak"

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21Publications

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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Am J Respir Crit Care Med 2019 Jun 12. Epub 2019 Jun 12.

Baylor College of Medicine, Department of Molecular & Human Genetics, Houston , Texas, United States ;

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http://dx.doi.org/10.1164/rccm.201903-0495TRDOI Listing
June 2019

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci.

Invest Ophthalmol Vis Sci 2019 04;60(5):1501-1509

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1167/iovs.18-25916DOI Listing
April 2019

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 Feb 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

Mamm Genome 2017 Aug 12;28(7-8):275-282. Epub 2017 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00335-017-9686-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502246PMC
August 2017

Genomic strategies to understand causes of keratoconus.

Mol Genet Genomics 2017 Apr 28;292(2):251-269. Epub 2016 Dec 28.

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Swiecickiego 4, Poznan, 60-781, Poland.

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http://dx.doi.org/10.1007/s00438-016-1283-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357269PMC
April 2017

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Ophthalmic Genet 2016 18;37(1):37-43. Epub 2014 Jun 18.

b Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland , and.

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http://dx.doi.org/10.3109/13816810.2014.926375DOI Listing
September 2016

Evidence against ZNF469 being causative for keratoconus in Polish patients.

Acta Ophthalmol 2016 May 25;94(3):289-94. Epub 2016 Jan 25.

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1111/aos.12968DOI Listing
May 2016

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7687-90

Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland 2Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1167/iovs.15-17538DOI Listing
December 2015

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.

Invest Ophthalmol Vis Sci 2013 Mar 1;54(3):2207-15. Epub 2013 Mar 1.

Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

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http://dx.doi.org/10.1167/iovs.13-11592DOI Listing
March 2013

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Mol Vis 2011 Mar 30;17:827-43. Epub 2011 Mar 30.

Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081799PMC
March 2011