Publications by authors named "Peter Burfeind"

52Publications

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.

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

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Hum Genet 2016 07 2;135(7):813-26. Epub 2016 May 2.

Institute of Human Genetics, University Medical Center Goettingen, Heinrich-Dueker-Weg 12, 37073, Goettingen, Germany.

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http://dx.doi.org/10.1007/s00439-016-1676-4DOI Listing
July 2016

Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma.

Strahlenther Onkol 2016 Jan 15;192(1):47-54. Epub 2015 Sep 15.

Department of Radiotherapy and Radiation Oncology, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.

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http://dx.doi.org/10.1007/s00066-015-0892-5DOI Listing
January 2016

High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma.

Strahlenther Onkol 2015 Jul 10;191(7):566-72. Epub 2015 Jan 10.

Department of Radiotherapy and Radiation Oncology, University Medical Center Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Germany.

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http://dx.doi.org/10.1007/s00066-014-0801-3DOI Listing
July 2015

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.

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

Increased microtubule assembly rates influence chromosomal instability in colorectal cancer cells.

Nat Cell Biol 2014 Aug 29;16(8):779-91. Epub 2014 Jun 29.

Institute of Molecular Oncology, Section for Cellular Oncology, Goettingen Center for Molecular Biosciences (GZMB) and University Medical Center, Georg-August University, D-37077 Goettingen, Germany.

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http://dx.doi.org/10.1038/ncb2994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4389786PMC
August 2014

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Mol Cytogenet 2014 Jan 23;7(1). Epub 2014 Jan 23.

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

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http://dx.doi.org/10.1186/1755-8166-7-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905920PMC
January 2014

A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.

Am J Med Genet A 2013 Oct 15;161A(10):2634-40. Epub 2013 Aug 15.

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

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http://dx.doi.org/10.1002/ajmg.a.36129DOI Listing
October 2013

Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.

Carcinogenesis 2013 May 24;34(5):1115-24. Epub 2013 Jan 24.

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

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http://dx.doi.org/10.1093/carcin/bgt019DOI Listing
May 2013

N-cadherin expression in malignant germ cell tumours of the testis.

BMC Clin Pathol 2012 Oct 15;12:19. Epub 2012 Oct 15.

Department of Pathology, University Medical Centre Göttingen, Robert-Koch-Str, 40, 37075, Göttingen, Germany.

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http://dx.doi.org/10.1186/1472-6890-12-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549730PMC
October 2012

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.

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

A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.

J Pediatr 2009 Jul;155(1):140-3

Department of Pediatric Neurology, Charité-University Medical Center, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2009.01.035DOI Listing
July 2009

Dual silencing of insulin-like growth factor-I receptor and epidermal growth factor receptor in colorectal cancer cells is associated with decreased proliferation and enhanced apoptosis.

Mol Cancer Ther 2009 Apr;8(4):821-33

Institute of Human Genetics, Department of General and Visceral Surgery, University of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.

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http://dx.doi.org/10.1158/1535-7163.MCT-09-0058DOI Listing
April 2009

Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.

Am J Med Genet A 2007 May;143A(10):1091-9

Institut für Humangenetik, Georg-August-Universität Göttingen, Heinrich-Düker-Weg 12, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31686DOI Listing
May 2007

Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis.

J Exp Med 2006 Mar 13;203(3):513-8. Epub 2006 Mar 13.

Department of Neurology, Institute for Clinical Biochemistry and Pathobiochemistry, University of Würzburg, 97080 Würzburg, Germany.

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http://dx.doi.org/10.1084/jem.20052458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2118228PMC
March 2006

Expression and functional analysis of Bax inhibitor-1 in human breast cancer cells.

J Pathol 2006 Feb;208(3):340-9

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

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http://dx.doi.org/10.1002/path.1902DOI Listing
February 2006

Defective thrombus formation in mice lacking coagulation factor XII.

J Exp Med 2005 Jul 11;202(2):271-81. Epub 2005 Jul 11.

Institute of Clinical Biochemistry and Pathobiochemistry, Deutsche Forschungsgemeinschaft Research Center for Experimental Biomedicine, University of Würzburg, 97078 Würzburg, Germany.

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http://dx.doi.org/10.1084/jem.20050664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2213000PMC
July 2005

Factor XII deficiency is strongly associated with primary recurrent abortions.

Fertil Steril 2003 Sep;80(3):590-4

Department of Gynecology and Obstetrics, University Hospital of Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1016/s0015-0282(03)00788-xDOI Listing
September 2003

Analyzes of three common thrombophilic gene mutations in German women with recurrent abortions.

Acta Obstet Gynecol Scand 2003 Oct;82(10):942-7

Department of Gynecology and Obstetrics, University of Goettingen, Goettingen, Germany.

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http://dx.doi.org/10.1034/j.1600-0412.2003.00293.xDOI Listing
October 2003

Male mice lacking the Theg (testicular haploid expressed gene) protein undergo normal spermatogenesis and are fertile.

Biol Reprod 2003 Sep 14;69(3):788-96. Epub 2003 May 14.

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

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http://dx.doi.org/10.1095/biolreprod.103.017400DOI Listing
September 2003

TSPY-LTA transgenic mice develop endocrine tumors of the pituitary and adrenal gland.

Mol Cell Endocrinol 2003 Feb;200(1-2):9-18

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

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http://dx.doi.org/10.1016/s0303-7207(02)00426-4DOI Listing
February 2003

Tep22, a novel testicular expressed gene, is involved in the biogenesis of the acrosome and the midpiece of the sperm tail.

Biochem Biophys Res Commun 2002 Oct;297(4):737-48

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

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http://dx.doi.org/10.1016/s0006-291x(02)02265-9DOI Listing
October 2002

The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse.

Hum Mol Genet 2002 Jul;11(14):1647-58

Institute of Human Genetics, Department of Zoology and Developmental Biology, University of Göttingen, 37073 Göttingen, Germany.

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http://hmg.oxfordjournals.org/content/11/14/1647.full.pdf
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http://dx.doi.org/10.1093/hmg/11.14.1647DOI Listing
July 2002