Publications by authors named "Sigrid Tinschert"

66Publications

Detection of a multilineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Pigment Cell Melanoma Res 2019 05 21;32(3):470-473. Epub 2018 Dec 21.

Institute of Human Genetics, University Hospital Otto-von-Guericke-University, Magdeburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12761DOI Listing
May 2019

Reorganization of chromosomal interactions in the 2q37-deletion syndrome.

EMBO J 2018 08 19;37(15). Epub 2018 Jun 19.

Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine (MDC), Berlin, Germany.

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http://dx.doi.org/10.15252/embj.201696257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068439PMC
August 2018

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Acta Derm Venereol 2018 Apr;98(5):534-535

Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Leipziger Str. 44, DE-39120 Magdeburg, Germany.

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http://dx.doi.org/10.2340/00015555-2883DOI Listing
April 2018

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

PLoS One 2015 16;10(3):e0119030. Epub 2015 Mar 16.

Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119030PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361563PMC
January 2016

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

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Eur J Hum Genet 2015 Jun 8;23(6):870-3. Epub 2014 Oct 8.

1] FG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany [2] Institute for Medical Genetics and Human Genetics, Universitätsmedizin Berlin, Charité Berlin - Campus Virchow, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795057PMC
June 2015

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

Slow growth of hair and nails, craniofacial abnormalities and brachyphalangy.

J Dtsch Dermatol Ges 2013 Oct 13;11(10):1023-5. Epub 2013 May 13.

Center of Medical Genetics Innsbruck, Medical University of Innsbruck, Austria.

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http://dx.doi.org/10.1111/ddg.12116DOI Listing
October 2013

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Am J Med Genet A 2013 Apr 22;161A(4):889-91. Epub 2013 Feb 22.

Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35764DOI Listing
April 2013

A misplaced lncRNA causes brachydactyly in humans.

J Clin Invest 2012 Nov 24;122(11):3990-4002. Epub 2012 Oct 24.

Experimental and Clinical Research Center, joint cooperation between Charité Medical Faculty and Max Delbrück Center for Molecular Medicine, Berlin, Germany.

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http://dx.doi.org/10.1172/JCI65508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485082PMC
November 2012

Macrocerebellum: significance and pathogenic considerations.

Cerebellum 2012 Dec;11(4):1026-36

Department of Pediatric Neurology, University Children's Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s12311-012-0379-1DOI Listing
December 2012

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Am J Hum Genet 2012 Apr 22;90(4):685-8. Epub 2012 Mar 22.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322218PMC
April 2012

Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting Proteus syndrome criteria.

J Craniofac Surg 2011 Nov;22(6):2135-40

Department of Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University Hospital Charité, Campus Virchow-Klinikum, Berlin, Germany.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/SCS.0b013e3182323cfcDOI Listing
November 2011

Wnt signaling and Dupuytren's disease.

N Engl J Med 2011 Jul 6;365(4):307-17. Epub 2011 Jul 6.

Department of Plastic Surgery, University Medical Center Groningen and University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1101029DOI Listing
July 2011

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Invest Ophthalmol Vis Sci 2011 Feb 3;52(2):695-700. Epub 2011 Feb 3.

Institute of Clinical Genetics, Dresden, Germany.

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http://dx.doi.org/10.1167/iovs.10-5740DOI Listing
February 2011

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Am J Med Genet A 2010 Nov;152A(11):2908-11

Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33692DOI Listing
November 2010

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Hum Mol Genet 2010 Mar 16;19(5):848-60. Epub 2009 Dec 16.

Department of Genetics, Nephrology, Hypertension, and Vascular Injury, Max-Delbrück Center for Molecular Medicine (MDC), Robert-Rössle Strasse 10, 13125 Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddp553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031338PMC
March 2010

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Eur J Med Genet 2009 Mar-Jun;52(2-3):128-30. Epub 2009 Mar 17.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.002DOI Listing
September 2009

Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care.

Acta Orthop Belg 2008 Oct;74(5):714-9

Department of Orthopaedics, University Hospital, Albert Schweitzer Strasse 33, 48149 Münster, Germany.

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October 2008

Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.

Acta Derm Venereol 2008 ;88(4):382-7

Department of Dermatology, Philipp University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.2340/00015555-0495DOI Listing
November 2008

Czech dysplasia: report of a large family and further delineation of the phenotype.

Am J Med Genet A 2008 Jul;146A(14):1859-64

Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32389DOI Listing
July 2008

Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.

Eur J Hum Genet 2008 Feb 28;16(2):184-91. Epub 2007 Nov 28.

Institut für Humangenetik, Otto-von-Guericke-Universität, Magdeburg, Germany.

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http://www.nature.com/articles/5201968
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http://dx.doi.org/10.1038/sj.ejhg.5201968DOI Listing
February 2008

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.

Electrophoresis 2007 Dec;28(23):4295-301

Department of Neuropediatrics, Charité University Medical School, Berlin, Germany.

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http://dx.doi.org/10.1002/elps.200700118DOI Listing
December 2007

Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.

Twin Res Hum Genet 2007 Jun;10(3):486-95

Department of Neuropediatrics, Charité, University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1375/twin.10.3.486DOI Listing
June 2007

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Eur J Med Genet 2005 Jul-Sep;48(3):328-38

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.024DOI Listing
November 2005

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Nephrol Dial Transplant 2004 Dec;19(12):3150-4

Department of Medical Genetics, Medical Faculty of the Charité, Berlin, Germany.

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http://dx.doi.org/10.1093/ndt/gfh524DOI Listing
December 2004

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

Eur J Pediatr 2005 Mar 19;164(3):154-7. Epub 2004 Nov 19.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://link.springer.com/10.1007/s00431-004-1583-x
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http://dx.doi.org/10.1007/s00431-004-1583-xDOI Listing
March 2005

Craniofacial hyperostoses in Proteus syndrome -- a case report.

J Craniomaxillofac Surg 2004 Dec;32(6):391-4

Department for Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University of Charité, Campus Virchow-Klinikum, Medizinische Fakultät der Humboldt-Universität, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jcms.2004.06.007DOI Listing
December 2004

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

Am J Med Genet A 2004 Mar;125A(3):261-6

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20519DOI Listing
March 2004

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.

Hum Mutat 2004 Feb;23(2):111-6

Laboratory for Tumor Biology and Development Disorders, Department of Maxillofacial Surgery, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.10299DOI Listing
February 2004

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

Proc Natl Acad Sci U S A 2003 Oct 1;100(21):12277-82. Epub 2003 Oct 1.

Institut für Medizinische Genetik, Humboldt-Universität, Charité, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1073/pnas.2133476100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC218749PMC
October 2003

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

Am J Med Genet A 2003 Aug;120A(4):547-52

Max-Planck-Institut für Molekulare Medizin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20062DOI Listing
August 2003

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

Am J Med Genet A 2003 Jul;120A(2):261-5

Institut für Medizinische Genetik, Medizinische Fakultät Charité, Humboldt Universität zu Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.20138DOI Listing
July 2003

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.

Genes Chromosomes Cancer 2003 Jun;37(2):111-20

Department of Neuroimmunology, Max-Planck-Institute of Neurobiology, Martinsried, Germany.

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http://dx.doi.org/10.1002/gcc.10206DOI Listing
June 2003

Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea).

Eur J Dermatol 2003 Jan-Feb;13(1):21-4

Institute of Medical Genetics, Charité Medical Centre, Humboldt University, Berlin, Germany.

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June 2003

Segmental neurofibromatosis.

Dermatology 2002 ;204(4):296-7

Department of Dermatology, University of Erlangen-Nuremberg, Germany.

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http://dx.doi.org/10.1159/000063363DOI Listing
September 2002