Publications by authors named "Karl Sperling"

62Publications

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.

PLoS One 2018 15;13(11):e0207315. Epub 2018 Nov 15.

Charité -Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical and Human Genetics, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207315PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237358PMC
April 2019

Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants.

Sci Rep 2017 08 8;7(1):7516. Epub 2017 Aug 8.

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich Heine University, 40225, Düsseldorf, Germany.

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http://dx.doi.org/10.1038/s41598-017-07905-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548734PMC
August 2017

Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine.

Cytometry B Clin Cytom 2017 11 10;92(6):541-549. Epub 2017 Feb 10.

Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Halle, D-06112, Germany.

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http://dx.doi.org/10.1002/cyto.b.21484DOI Listing
November 2017

5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac.

Cytogenet Genome Res 2015 10;147(4):240-6. Epub 2016 Mar 10.

Department of Human Genetics, University of Wx00FC;rzburg, Wx00FC;rzburg, Germany.

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https://www.karger.com/Article/FullText/444431
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http://dx.doi.org/10.1159/000444431DOI Listing
February 2017

Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident.

Genet Epidemiol 2012 Jan 7;36(1):48-55. Epub 2011 Dec 7.

Institute of Medical and Human Genetics, Charité - Universitaetsmedizin Berlin, Germany.

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http://doi.wiley.com/10.1002/gepi.20662
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http://dx.doi.org/10.1002/gepi.20662DOI Listing
January 2012

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Hum Mol Genet 2011 Jul 15;20(13):2585-90. Epub 2011 Apr 15.

Department of Pediatrics and Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburgerplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddr158DOI Listing
July 2011

The LARGE principle of cellular reprogramming: lost, acquired and retained gene expression in foreskin and amniotic fluid-derived human iPS cells.

PLoS One 2010 Oct 29;5(10):e13703. Epub 2010 Oct 29.

Molecular Embryology and Aging Group, Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0013703PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2966395PMC
October 2010

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

Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin.

Genet Test Mol Biomarkers 2009 Feb;13(1):43-9

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1089/gtmb.2008.0055DOI Listing
February 2009

Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.

Mol Vis 2009 4;15:476-81. Epub 2009 Mar 4.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650718PMC
April 2009

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Mol Vis 2008 Jun 17;14:1171-5. Epub 2008 Jun 17.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2435161PMC
June 2008

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

Mol Vis 2008 Feb 9;14:323-6. Epub 2008 Feb 9.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2255026PMC
February 2008

A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin.

Mol Vis 2007 Oct 25;13:2035-40. Epub 2007 Oct 25.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2007

Cancer risk of heterozygotes with the NBN founder mutation.

J Natl Cancer Inst 2007 Dec 11;99(24):1875-80. Epub 2007 Dec 11.

DrSc, Department of Clinical Genetics, Charles University Hospital, 2nd Medical School of Charles University, V úvalu 84, 150 06 Praha 5 Motol, Czech Republic.

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http://jnci.oxfordjournals.org/content/99/24/1875.full.pdf
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http://jnci.oxfordjournals.org/cgi/doi/10.1093/jnci/djm251
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http://dx.doi.org/10.1093/jnci/djm251DOI Listing
December 2007

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.

Eur J Cell Biol 2008 Feb 30;87(2):111-21. Epub 2007 Oct 30.

Institut für Humangenetik, Charité - Universitätsmedizin Berlin, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S017193350700136
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http://dx.doi.org/10.1016/j.ejcb.2007.09.002DOI Listing
February 2008

A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family.

Mol Vis 2007 Sep 11;13:1657-65. Epub 2007 Sep 11.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://www.molvis.org/molvis/v17/a151/mv-v17-a151-ding.pdf
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September 2007

Hereditary prosopagnosia: the first case series.

Cortex 2007 Aug;43(6):734-49

Institute of Human Genetics, Westfälische Wilhelms-University, Münster, Germany.

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http://dx.doi.org/10.1016/s0010-9452(08)70502-1DOI Listing
August 2007

Molecular genetic analysis of NBS1 in German melanoma patients.

Melanoma Res 2007 Apr;17(2):109-16

Institute of Human Genetics, Molecular Oncogenetics Unit, University Hospital, Tuebingen, Germany.

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http://dx.doi.org/10.1097/CMR.0b013e3280dec638DOI Listing
April 2007

[Custom-made medicine: preimplantation genetic diagnosis].

Authors:
Karl Sperling

Z Arztl Fortbild Qualitatssich 2006 ;100(9-10):666-72; discussion 676, 724

Institut für Humangenetik, Charité, Universitätsmedizin Berlin.

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July 2007

The granulocyte nucleus and lamin B receptor: avoiding the ovoid.

Chromosoma 2007 Jun 24;116(3):227-35. Epub 2007 Jan 24.

Department of Medical Genetics, Charite Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1007/s00412-007-0094-8DOI Listing
June 2007

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

Mol Vis 2006 Oct 18;12:1217-22. Epub 2006 Oct 18.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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October 2006

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

Am J Med Genet A 2007 Jan;143A(1):92-4

Institute of Human Genetics, Charité, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31540DOI Listing
January 2007

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.

Int J Cancer 2006 Dec;119(12):2970-3

Department of Immunology, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw, Poland.

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http://dx.doi.org/10.1002/ijc.22280DOI Listing
December 2006

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Carcinogenesis 2007 Jan 13;28(1):107-11. Epub 2006 Jul 13.

Institut für Humangenetik, Charité-Universitätsmedizin Berlin Campus-Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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https://academic.oup.com/carcin/article-lookup/doi/10.1093/c
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http://dx.doi.org/10.1093/carcin/bgl126DOI Listing
January 2007

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.

Mol Vis 2006 May 22;12:518-22. Epub 2006 May 22.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, Punjab, India.

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May 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.

Mol Vis 2006 Feb 21;12:93-9. Epub 2006 Feb 21.

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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February 2006

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.

Am J Med Genet A 2006 Mar;140(6):558-66

Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India.

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http://dx.doi.org/10.1002/ajmg.a.31126DOI Listing
March 2006

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Hum Mol Genet 2006 Mar 13;15(5):679-89. Epub 2006 Jan 13.

Institute of Human Genetics, Charité, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddi482DOI Listing
March 2006

[DNA diagnosis: precise predictions are only possible with limitations].

Authors:
Karl Sperling

Pflege Z 2005 Nov;58(11):673-6

Institut für Humangenetik der Charité, Universitätsmedizin, Berlin.

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November 2005

QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe.

J Histochem Cytochem 2005 Mar;53(3):371-3

University Hospital Motol, Institute of Biology and Medical Genetics, Laboratory of Assisted Reproduction and Reproductive Genetics, V Uvalu 84, Prague-5, 150 06, Czech Republic.

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http://dx.doi.org/10.1369/jhc.4B6510.2005DOI Listing
March 2005

Nibrin functions in Ig class-switch recombination.

Proc Natl Acad Sci U S A 2005 Feb 24;102(5):1584-9. Epub 2005 Jan 24.

German Rheumatism Research Center, Schumannstrasse 21-22, 10117 Berlin, Germany.

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http://dx.doi.org/10.1073/pnas.0409191102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC547877PMC
February 2005

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

Hum Mol Genet 2004 Oct 27;13(20):2385-97. Epub 2004 Aug 27.

Institut für Humangenetik, Charité Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddh278DOI Listing
October 2004

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

DNA Repair (Amst) 2004 Aug-Sep;3(8-9):1207-17

Institute of Human Genetics, Charité-University Medicine Berlin, Augustenburger platz 1, Berlin 13353, Germany.

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http://dx.doi.org/10.1016/j.dnarep.2004.03.004DOI Listing
February 2005

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Am J Hum Genet 2004 Aug 15;75(2):261-6. Epub 2004 Jun 15.

Institute of Human Genetics, Charité Universitary Medicine Berlin, Campus Virchow, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1086/422855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1216060PMC
August 2004

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.

Pediatr Neurol 2004 Mar;30(3):195-200

Department of Child Neurology, Charles University Hospital, Motol Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.pediatrneurol.2003.07.003DOI Listing
March 2004

[Preimplantation versus prenatal diagnosis--a comparison from the human genetics point of view].

Authors:
Karl Sperling

Z Arztl Fortbild Qualitatssich 2002 Jul;96(6-7):404-9

Institut für Humangenetik der Charité, Berlin.

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July 2002

SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.

Oncogene 2002 Jul;21(32):4873-8

Institut für Humangenetik, Charité - Campus Virchow-Klinikum, Humboldt Universität zu Berlin, Germany.

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http://dx.doi.org/10.1038/sj.onc.1205616DOI Listing
July 2002

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

Nat Genet 2002 Aug 15;31(4):410-4. Epub 2002 Jul 15.

Gene Mapping Center, Max Delbrück Center for Molecular Medicine and Franz Volhard Clinic, HELIOS Klinikum, Charité, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1038/ng925DOI Listing
August 2002

Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.

Carcinogenesis 2002 Jul;23(7):1121-6

Institut für Humangenetik, Charité-Campus Virchow-Klinikum, Humboldt Universität zu Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/carcin/23.7.1121DOI Listing
July 2002

Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma.

Oncol Rep 2002 Jul-Aug;9(4):709-11

Institute of Human Genetics, Charite, Humboldt-University, Berlin, Germany.

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January 2003

Intracytoplasmic sperm injection may increase the risk of imprinting defects.

Am J Hum Genet 2002 Jul 8;71(1):162-4. Epub 2002 May 8.

Children's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1086/341096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384973PMC
July 2002

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Am J Hum Genet 2002 Apr 20;70(4):1015-22. Epub 2002 Feb 20.

Institute of Human Genetics, Charité, Campus Virchow, Humboldt University-Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1086/339518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379095PMC
April 2002