Luitgard M Graul-Neumann

Luitgard M Graul-Neumann

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Luitgard M Graul-Neumann

Luitgard M Graul-Neumann

Publications by authors named "Luitgard M Graul-Neumann"

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22Publications

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Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Eur J Med Genet 2018 Jul 31;61(7):363-368. Epub 2018 Jan 31.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.016DOI Listing
July 2018

Mutation c.943G>T (p.Ala315Ser) in Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.

Mol Syndromol 2017 Mar 13;8(2):93-97. Epub 2017 Jan 13.

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

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http://dx.doi.org/10.1159/000455028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465678PMC
March 2017

Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.

Eur J Hum Genet 2016 08 10;24(9):1244-7. Epub 2016 Feb 10.

Ambulantes Gesundheitszentrum der Charité Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989216PMC
August 2016

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Meta Gene 2014 Dec 11;2:72-82. Epub 2014 Jan 11.

Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; SPZ Pediatric Neurology, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany ; Institute of Neuroanatomy and Cell Biology, Charité-Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10115 Berlin, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S22145400130002
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http://dx.doi.org/10.1016/j.mgene.2013.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287802PMC
December 2014

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Eur J Hum Genet 2014 Jun 16;22(6):726-33. Epub 2013 Oct 16.

1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2013.222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023204PMC
June 2014

A novel RAB33B mutation in Smith-McCort dysplasia.

Hum Mutat 2013 Feb 8;34(2):283-6. Epub 2012 Nov 8.

Inserm, U676, Paris, France.

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http://dx.doi.org/10.1002/humu.22235DOI Listing
February 2013

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

Eur J Med Genet 2011 May-Jun;54(3):256-61. Epub 2011 Feb 17.

Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.02.002DOI Listing
September 2011

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Am J Med Genet A 2009 Feb;149A(2):242-5

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

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http://dx.doi.org/10.1002/ajmg.a.32637DOI Listing
February 2009

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).

Am J Med Genet A 2009 Feb;149A(4):746-50

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

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http://dx.doi.org/10.1002/ajmg.a.32728DOI Listing
February 2009

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Eur J Pediatr 2008 Aug 12;167(8):903-8. Epub 2007 Oct 12.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-007-0616-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600PMC
August 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

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

Am J Med Genet A 2008 Apr;146A(8):977-83

Institute of Human Genetics, Charité, Campus Virchow-Klinikum, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32242DOI Listing
April 2008