Publications by authors named "Sabine Endele"

22Publications

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Eur J Hum Genet 2014 Feb 15;22(2):289-92. Epub 2013 May 15.

Departement de Genetique Medicale, Centre de Reference Maladies Rares Anomalies du Developpement et Syndromes Malformatifs Sud-Languedoc Roussillon, Hopital Arnaud de Villeneuve CHRU Montpellier, Faculte de Medecine Universite Montpellier 1, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895633PMC
February 2014

C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.

Neurogenetics 2011 May 2;12(2):155-63. Epub 2011 Feb 2.

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-011-0275-8DOI Listing
May 2011

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.

J Med Genet 2010 Feb 19;47(2):91-8. Epub 2009 Oct 19.

Institute of Medical Genetics, University of Zurich, Schorenstrasse 16, CH-8603 Schwerzenbach-Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2009.069799DOI Listing
February 2010

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy.

Transgenic Res 2007 Dec 27;16(6):723-9. Epub 2007 Jul 27.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Schwabachanlage 10, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11248-007-9118-7DOI Listing
December 2007

Polymorphisms of human androgen receptor (hAR) gene in prostate cancer cell lines PC-EW and PC-OR.

Anticancer Res 2005 May-Jun;25(3A):1611-4

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

View Article

Download full-text PDF

Source
September 2005

Polymorphisms in the human progesterone receptor (PGR) gene of two human prostate adenocarcinoma cell lines.

Anticancer Res 2005 May-Jun;25(3A):1607-9

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

View Article

Download full-text PDF

Source
September 2005

LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.

Genomics 2004 Feb;83(2):254-61

Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Schwabachanlage 10, D-91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ygeno.2003.08.013DOI Listing
February 2004

A novel myosin heavy chain gene in human chromosome 19q13.3.

Gene 2003 Jul;312:165-71

Institute of Human Genetics, University of Erlangen-Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0378-1119(03)00613-9DOI Listing
July 2003