Peter Meinecke

Peter Meinecke

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Peter Meinecke

Peter Meinecke

Publications by authors named "Peter Meinecke"

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Single-channel properties of skeletal muscle ryanodine receptor pore ΔFF in two brothers with a lethal form of fetal akinesia.

Cell Calcium 2020 Feb 17;87:102182. Epub 2020 Feb 17.

Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC 27599-7260, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ceca.2020.102182DOI Listing
February 2020

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

BMC Med Genet 2014 Nov 30;15:127. Epub 2014 Nov 30.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
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http://dx.doi.org/10.1186/s12881-014-0127-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412025PMC
November 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Am J Med Genet A 2011 Aug 7;155A(8):1917-22. Epub 2011 Jul 7.

Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34102DOI Listing
August 2011

Wiedemann-Steiner syndrome: three further cases.

Am J Med Genet A 2010 Sep;152A(9):2372-5

Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33587DOI Listing
September 2010

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

Eur J Med Genet 2010 Mar-Apr;53(2):85-8. Epub 2010 Jan 18.

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

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http://linkinghub.elsevier.com/retrieve/pii/S176972121000005
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http://dx.doi.org/10.1016/j.ejmg.2010.01.002DOI Listing
July 2010

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Am J Med Genet A 2008 Mar;146A(6):779-83

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.32230
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http://dx.doi.org/10.1002/ajmg.a.32230DOI Listing
March 2008

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.

Nature 2006 Dec;444(7122):1038-43

Center for Biomedical Genetics Medical Genetic Center Department of Cell Biology and Genetics, Erasmus Medical Center, PO Box 1738, 3000 DR Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/nature05456DOI Listing
December 2006

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

Eur J Pediatr 2005 Aug 12;164(8):530-1. Epub 2005 May 12.

Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-005-1680-5DOI Listing
August 2005

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Am J Med Genet A 2005 Feb;132A(4):386-90

Department of Medical Genetics, Medical University, Plovdiv, Bulgaria.

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http://dx.doi.org/10.1002/ajmg.a.30484DOI Listing
February 2005

A second case of Devriendt syndrome.

Clin Dysmorphol 2005 Jan;14(1):19-22

Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.

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http://dx.doi.org/10.1097/00019605-200501000-00004DOI Listing
January 2005

Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

Clin Dysmorphol 2005 Jan;14(1):31-4

Department of Pediatrics, University of Schleswig-Holstein, Lübeck Medical School, Ratzeburger Allee 160, D-23538 Lübeck, Germany.

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http://dx.doi.org/10.1097/00019605-200501000-00007DOI Listing
January 2005

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Eur J Hum Genet 2004 May;12(5):400-6

Department of Medical Genetics, University of Antwerp, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201163DOI Listing
May 2004

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Genomics 2004 May;83(5):883-92

Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42, 22529 Hamburg, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2003.10.012DOI Listing
May 2004