Luitgard Graul-Neumann

Luitgard Graul-Neumann

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Luitgard Graul-Neumann

Luitgard Graul-Neumann

Publications by authors named "Luitgard Graul-Neumann"

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48Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

Novel mosaic variants in two patients with Cornelia de Lange syndrome.

Eur J Med Genet 2018 Nov 15;61(11):680-684. Epub 2017 Nov 15.

Section for Functional Genetics, Institute of Human Genetics, Lübeck, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.004DOI Listing
November 2018

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

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Am J Hum Genet 2017 Nov;101(5):833-843

Institute of Medical and Human Genetics, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Development and Disease Group, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623PMC
November 2017

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature.

J Med Case Rep 2017 Aug 15;11(1):233. Epub 2017 Aug 15.

Center for Dental and Craniofacial Sciences, Department of Orthodontics, Dentofacial Orthopedics and Pedodontics, Charité - Universitätsmedizin Berlin, Aßmannshauser Str. 4-6, 14197, Berlin, Germany.

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http://dx.doi.org/10.1186/s13256-017-1387-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556355PMC
August 2017

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

Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome.

J Clin Ultrasound 2014 Nov-Dec;42(9):569-73. Epub 2014 Apr 18.

Department of Neonatology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/jcu.22164DOI Listing
June 2015

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

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Sci Transl Med 2014 Sep;6(252):252ra123

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany. Berlin-Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustr. 9, 14195 Berlin, Germany.

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http://dx.doi.org/10.1126/scitranslmed.3009262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639PMC
September 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

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

Eur J Med Genet 2013 Dec 17;56(12):669-73. Epub 2013 Oct 17.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Schwabachanlage 10, 91054 Erlangen, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212130022
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http://dx.doi.org/10.1016/j.ejmg.2013.10.002DOI Listing
December 2013

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

Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.

Am J Med Genet A 2013 Jan 14;161A(1):218-24. Epub 2012 Dec 14.

Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35695DOI Listing
January 2013

The oculo-auriculo-fronto-nasal syndrome (OAFNS) - description of a rare and complex craniofacial deformity and its interdisciplinary management before school age.

J Craniomaxillofac Surg 2012 Dec 13;40(8):668-74. Epub 2012 Jan 13.

Department of Oral and Maxillofacial Surgery, Clinical Navigation, University Hospital Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.jcms.2011.11.003DOI Listing
December 2012

Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Clin Dysmorphol 2012 Oct;21(4):183-90

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-3717, USA.

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https://insights.ovid.com/crossref?an=00019605-201210000-000
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http://dx.doi.org/10.1097/MCD.0b013e3283551fd0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131985PMC
October 2012

Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report.

J Craniomaxillofac Surg 2011 Dec 8;39(8):554-61. Epub 2011 Jan 8.

Dept. of Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, University Hospital Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1016/j.jcms.2010.11.016DOI Listing
December 2011

Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report.

J Craniomaxillofac Surg 2011 Oct 10;39(7):487-95. Epub 2010 Dec 10.

Department of Oral and Maxillofacial Surgery, Surgical Robotics and Navigation, Universitätsmedizin Berlin Charité, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1016/j.jcms.2010.10.026DOI Listing
October 2011

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

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

J Clin Endocrinol Metab 2011 Mar 29;96(3):E453-62. Epub 2010 Dec 29.

Centre for Endocrinology, Diabetes and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124345PMC
http://dx.doi.org/10.1210/jc.2010-1607DOI Listing
March 2011

Digital necroses and vascular thrombosis in severe spinal muscular atrophy.

Muscle Nerve 2010 Jul;42(1):144-7

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany.

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http://dx.doi.org/10.1002/mus.21654DOI Listing
July 2010

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