Publications by authors named "Inga Vater"

33Publications

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.

Mol Genet Metab Rep 2020 Dec 22;25:100660. Epub 2020 Oct 22.

International Center for Lysosomal Disorders (ICLD), Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7582098PMC
December 2020

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

Genes Chromosomes Cancer 2016 09 23;55(9):677-87. Epub 2016 Jun 23.

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/gcc.22369DOI Listing
September 2016

Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications.

Am J Med Genet A 2016 Apr 8;170A(4):1050-8. Epub 2016 Jan 8.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37523DOI Listing
April 2016

A familial disorder of altered DNA-methylation.

J Med Genet 2014 Jun 10;51(6):407-12. Epub 2014 Apr 10.

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-102149DOI Listing
June 2014

Recurrent mutation of JAK3 in T-cell prolymphocytic leukemia.

Genes Chromosomes Cancer 2014 Apr 21;53(4):309-16. Epub 2014 Jan 21.

Institute for Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany; Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1002/gcc.22141DOI Listing
April 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Janus--a comprehensive tool investigating the two faces of transcription.

Bioinformatics 2013 Jul 24;29(13):1600-6. Epub 2013 Apr 24.

Institute for Clinical Molecular Biology, Christian-Albrechts-University, 24105 Kiel, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt185DOI Listing
July 2013

Frequency and characterization of DNA methylation defects in children born SGA.

Eur J Hum Genet 2013 Aug 12;21(8):838-43. Epub 2012 Dec 12.

Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722674PMC
August 2013

Genetic lesions of the TRAF3 and MAP3K14 genes in classical Hodgkin lymphoma.

Br J Haematol 2012 Jun 3;157(6):702-8. Epub 2012 Apr 3.

Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Medical School, Essen, Germany.

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http://dx.doi.org/10.1111/j.1365-2141.2012.09113.xDOI Listing
June 2012

Recurrent deletions of the TNFSF7 and TNFSF9 genes in 19p13.3 in diffuse large B-cell and Burkitt lymphomas.

Int J Cancer 2012 Sep 31;131(5):E830-5. Epub 2012 Jan 31.

Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Medical School, Essen, Germany.

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http://doi.wiley.com/10.1002/ijc.27416
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http://dx.doi.org/10.1002/ijc.27416DOI Listing
September 2012

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Eur J Med Genet 2011 Sep-Oct;54(5):e501-4. Epub 2011 Jun 7.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.004DOI Listing
December 2011

Statistical inference of allelic imbalance from transcriptome data.

Hum Mutat 2011 Jan;32(1):98-106

Institute of Medical Informatics and Statistics, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1002/humu.21396DOI Listing
January 2011

Rare occurrence of biallelic CYLD gene mutations in classical Hodgkin lymphoma.

Genes Chromosomes Cancer 2010 Sep;49(9):803-9

Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Medical School, Essen, Germany.

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http://doi.wiley.com/10.1002/gcc.20789
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http://dx.doi.org/10.1002/gcc.20789DOI Listing
September 2010

Immunoglobulin heavy chain locus chromosomal translocations in B-cell precursor acute lymphoblastic leukemia: rare clinical curios or potent genetic drivers?

Blood 2010 Feb 30;115(8):1490-9. Epub 2009 Dec 30.

MRC Toxicology Unit and Department of Cancer Studies and Molecular Medicine, University of Leicester, Lancaster Road, Leicester, United Kingdom.

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http://dx.doi.org/10.1182/blood-2009-09-235986DOI Listing
February 2010

Hunting for the 5th base: Techniques for analyzing DNA methylation.

Biochim Biophys Acta 2009 Sep 9;1790(9):847-62. Epub 2009 Feb 9.

Institute of Human Genetics, Christian-Albrechts University Kiel, University Hospital Schleswig-Holstein Campus Kiel, Germany.

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http://dx.doi.org/10.1016/j.bbagen.2009.02.001DOI Listing
September 2009