Publications by authors named "Silke Pauli"

28Publications

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Neurol Genet 2019 Jun 26;5(3):e327. Epub 2019 Apr 26.

Department of Neurology (P.-O.C., J.S.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S., S.P.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S.), Heidelberg University; Department of Neuroradiology (K.S.), University Medical Center Göttingen; CeGaT GmbH and Praxis für Humangenetik Tübingen (C.D.O.); Institute of Neuropathology (A.W., S.Z.), University Medical Center Göttingen; and Institute of Neuropathology, Saarland University Medical Center (A.W.), Homburg; and Institute of Human Genetics (S.P.), University Medical Center Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515939PMC
June 2019

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Mol Cytogenet 2018 29;11:62. Epub 2018 Dec 29.

1Institute of Human Genetics, University Medical Center, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-018-0410-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980PMC
December 2018

Homozygosity for the c.428delG variant in in a healthy individual: implications for molecular testing in patients with Joubert syndrome.

J Med Genet 2019 04 17;56(4):261-264. Epub 2018 Aug 17.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105470
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2018-105470DOI Listing
April 2019

Sema3a plays a role in the pathogenesis of CHARGE syndrome.

Hum Mol Genet 2018 04;27(8):1343-1352

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddy045DOI Listing
April 2018

CHARGEd with neural crest defects.

Am J Med Genet C Semin Med Genet 2017 12 30;175(4):478-486. Epub 2017 Oct 30.

Department of Biology, Molecular Embryology, Philipps-University Marburg, Marburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31584DOI Listing
December 2017

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Neurol Genet 2017 Aug 10;3(4):e167. Epub 2017 Jul 10.

Institute of Human Genetics (M.S., B.Z., S.P.), Department of Neurology (J.Z., J.S.), and Department of Neuroradiology (P.H.), University Medical Center Göttingen; Department of Human Genetics (W.K.), University of Würzburg; and CeGaT GmbH und Praxis für Humangenetik (J.M.), Tübingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524525PMC
August 2017

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Mol Cytogenet 2014 23;7(1):74. Epub 2014 Oct 23.

Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-014-0074-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064PMC
October 2014

CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance.

Hum Genet 2014 Aug 13;133(8):997-1009. Epub 2014 Apr 13.

Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-014-1444-2DOI Listing
August 2014

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Hum Mol Genet 2014 Aug 4;23(16):4396-405. Epub 2014 Apr 4.

Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/23/16/4396.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu156
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu156DOI Listing
August 2014

Soft tissue perineurioma and other unusual tumors in a patient with neurofibromatosis type 1.

Int J Clin Exp Pathol 2013 15;6(12):3003-8. Epub 2013 Nov 15.

Institute of Pathology, University Medical Center Göttingen Germany ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School Boston MA, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843285PMC
August 2014

Acute onset of adult Alexander disease.

J Neurol Sci 2013 Aug 23;331(1-2):152-4. Epub 2013 May 23.

Department of Neurology, Faculty of Medicine, University of Göttingen, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2013.05.006DOI Listing
August 2013

Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes.

Eur J Med Genet 2012 Aug-Sep;55(8-9):480-4. Epub 2012 Jun 4.

Institute of Human Genetics, University of Göttingen, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.05.004DOI Listing
November 2012

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Hum Mol Genet 2010 Jul 7;19(14):2858-66. Epub 2010 May 7.

Institute of Human Genetics, University of Göttingen, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq189DOI Listing
July 2010

TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations.

J Hum Genet 2009 Jun 17;54(6):331-4. Epub 2009 Apr 17.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2009.34DOI Listing
June 2009

Investigation of citrullinemia type I variants by in vitro expression studies.

Hum Mutat 2008 Oct;29(10):1222-7

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin, Münster, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.20784
Publisher Site
http://dx.doi.org/10.1002/humu.20784DOI Listing
October 2008

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

Mol Vis 2007 Jun 19;13:962-7. Epub 2007 Jun 19.

Institute of Human Genetics, University of Göttingen, Göttingen, Germany.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774456PMC
June 2007

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

Biochim Biophys Acta 2005 Apr 24;1740(1):54-9. Epub 2005 Feb 24.

Universitätsklinikum Münster, Klinik für Kinder-und Jugendmedizin, Albert-Schweitzer-Str. 33, 48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2005.02.006DOI Listing
April 2005

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

Mol Genet Metab 2003 Nov;80(3):302-6

Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde, Albert-Schweitzer-Strasse 33, D-48149 Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2003.08.002DOI Listing
November 2003

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Hum Mutat 2003 Jun;21(6):593-7

Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde, Münster, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.10216DOI Listing
June 2003