Gabriele Gillessen-Kaesbach

Gabriele Gillessen-Kaesbach

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Gabriele Gillessen-Kaesbach

Gabriele Gillessen-Kaesbach

Publications by authors named "Gabriele Gillessen-Kaesbach"

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The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Epigenetics 2018 19;13(8):822-828. Epub 2018 Sep 19.

a Institut für Humangenetik , Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

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http://dx.doi.org/10.1080/15592294.2018.1514233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224218PMC
March 2019

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.004DOI Listing
November 2018

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.

J Hum Genet 2018 Sep 13;63(9):997-1001. Epub 2018 Jun 13.

Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.

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http://dx.doi.org/10.1038/s10038-018-0469-0DOI Listing
September 2018

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.

J Hum Genet 2017 Nov 20;62(11):1005-1006. Epub 2017 Jul 20.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1038/jhg.2017.73DOI Listing
November 2017

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2017 May 29;173(5):1400-1405. Epub 2017 Mar 29.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38188DOI Listing
May 2017

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Am J Med Genet A 2016 09 10;170(9):2404-7. Epub 2016 Jun 10.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37791DOI Listing
September 2016

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Cerebellum Ataxias 2015 16;2:19. Epub 2015 Dec 16.

Department of Neurology, Philipps University of Marburg, Baldinger straße, 53043 Marburg, Germany.

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http://dx.doi.org/10.1186/s40673-015-0038-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681123PMC
December 2015

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

Epigenomics 2015 Oct 6;7(7):1089-97. Epub 2015 Nov 6.

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

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http://dx.doi.org/10.2217/epi.15.73DOI Listing
October 2015

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

Eur J Med Genet 2015 Aug 21;58(8):419-25. Epub 2015 May 21.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.05.001DOI Listing
August 2015

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Hum Mutat 2015 Jan 2;36(1):26-9. Epub 2014 Dec 2.

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

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http://dx.doi.org/10.1002/humu.22685DOI Listing
January 2015

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Am J Hum Genet 2014 Dec;95(6):763-70

Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259972PMC
December 2014

THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.

Biochim Biophys Acta 2014 Nov 1;1839(11):1196-204. Epub 2014 Aug 1.

Sektion für Funktionelle Genetik am Institut für Humangenetik, University of Luebeck, Luebeck 23538, Germany.

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http://dx.doi.org/10.1016/j.bbagrm.2014.07.019DOI Listing
November 2014

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

Clinical utility gene card for: Prader-Willi Syndrome.

Eur J Hum Genet 2014 Sep 16;22(9). Epub 2014 Apr 16.

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135421PMC
September 2014

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.

Mol Syndromol 2014 Aug 7;5(5):201-11. Epub 2014 Aug 7.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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https://www.karger.com/Article/FullText/365770
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http://dx.doi.org/10.1159/000365770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188166PMC
August 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

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

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Eur J Med Genet 2011 May-Jun;54(3):343-7. Epub 2011 Mar 21.

Bereich Pränatalmedizin, Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.02.009DOI Listing
September 2011

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

J Neurol 2011 Jul 26;258(7):1223-7. Epub 2011 Jan 26.

Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1007/s00415-011-5905-4DOI Listing
July 2011

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.

J Matern Fetal Neonatal Med 2011 Jul 22;24(7):978-82. Epub 2011 Feb 22.

Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Germany.

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http://dx.doi.org/10.3109/14767058.2010.531312DOI Listing
July 2011

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human.

J Med Genet 2010 Jun 30;47(6):371-6. Epub 2009 Nov 30.

Universität des Saarlandes, FR 8.3 Biowissenschaften, Genetik/Epigenetik, Postfach 151150, D-66041 Saarbrücken, Germany.

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http://dx.doi.org/10.1136/jmg.2009.073189DOI Listing
June 2010

Missense exchanges in the TTBK2 gene mutated in SCA11.

J Neurol 2009 Nov 17;256(11):1856-9. Epub 2009 Jun 17.

Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1007/s00415-009-5209-0DOI Listing
November 2009

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

BMC Med Genet 2009 Sep 11;10:87. Epub 2009 Sep 11.

Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1186/1471-2350-10-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749023PMC
September 2009

Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy children.

Dtsch Arztebl Int 2009 Aug 14;106(33):533-8. Epub 2009 Aug 14.

Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.3238/arztebl.2009.0533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2737433PMC
August 2009

Elements of morphology: standard terminology for the ear.

Am J Med Genet A 2009 Jan;149A(1):40-60

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32599DOI Listing
January 2009

The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modifications.

Nucleic Acids Res 2008 Nov 14;36(20):6450-8. Epub 2008 Oct 14.

Institut für Humangenetik, Universität zu Lübeck, 23538 Lübeck, Germany.

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http://dx.doi.org/10.1093/nar/gkn688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2582609PMC
November 2008