Publications Authored by Luitgard Graul-Neumann

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Authors:

Marcello Niceta Domenico Barbuti Neerja Gupta Carlos Ruggiero Eduardo F Tizzano Luitgard Graul-Neumann Sabina Barresi Gen Nishimura Irene Valenzuela Fermina López-Grondona Paula Fernandez-Alvarez Chiara Leoni Christiane Zweier Andreas Tzschach Emilia Stellacci Andrea Del Fattore Bruno Dallapiccola Giuseppe Zampino Marco Tartaglia

Clin Genet 2020 Feb 3;97(2):362-369. Epub 2019 Nov 3.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1111/cge.13651	DOI Listing

February 2020

PEDIA: prioritization of exome data by image analysis.

Authors:

Tzung-Chien Hsieh Martin A Mensah Jean T Pantel Dione Aguilar Omri Bar Allan Bayat Luis Becerra-Solano Heidi B Bentzen Saskia Biskup Oleg Borisov Oivind Braaten Claudia Ciaccio Marie Coutelier Kirsten Cremer Magdalena Danyel Svenja Daschkey Hilda David Eden Koenraad Devriendt Sandra Wilson Sofia Douzgou Dejan Đukić Nadja Ehmke Christine Fauth Björn Fischer-Zirnsak Nicole Fleischer Heinz Gabriel Luitgard Graul-Neumann Karen W Gripp Yaron Gurovich Asya Gusina Nechama Haddad Nurulhuda Hajjir Yair Hanani Jakob Hertzberg Konstanze Hoertnagel Janelle Howell Ivan Ivanovski Angela Kaindl Tom Kamphans Susanne Kamphausen Catherine Karimov Hadil Kathom Anna Keryan Alexej Knaus Sebastian Köhler Uwe Kornak Alexander Lavrov Maximilian Leitheiser Gholson J Lyon Elisabeth Mangold Purificación Marín Reina Antonio Martinez Carrascal Diana Mitter Laura Morlan Herrador Guy Nadav Markus Nöthen Alfredo Orrico Claus-Eric Ott Kristen Park Borut Peterlin Laura Pölsler Annick Raas-Rothschild Linda Randolph Nicole Revencu Christina Ringmann Fagerberg Peter Nick Robinson Stanislav Rosnev Sabine Rudnik Gorazd Rudolf Ulrich Schatz Anna Schossig Max Schubach Or Shanoon Eamonn Sheridan Pola Smirin-Yosef Malte Spielmann Eun-Kyung Suk Yves Sznajer Christian T Thiel Gundula Thiel Alain Verloes Irena Vrecar Dagmar Wahl Ingrid Weber Korina Winter Marzena Wiśniewska Bernd Wollnik Ming W Yeung Max Zhao Na Zhu Johannes Zschocke Stefan Mundlos Denise Horn Peter M Krawitz

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

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/s41436-019-0566-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739	PMC

December 2019

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.

Authors:

Anna L Burgemeister Eva Daumiller Gabriele du Bois Luitgard M Graul-Neumann Birgit Köhler Susanne Knecht Stefan Burgemeister Sarah Gronwald Martin H Maurer Birgit Zirn

Eur J Med Genet 2019 Mar 18;62(3):210-216. Epub 2018 Jul 18.

Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ejmg.2018.07.016	DOI Listing

March 2019

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

Authors:

Jelena Pozojevic Ilaria Parenti Luitgard Graul-Neumann Sara Ruiz Gil Erwan Watrin Kerstin S Wendt Ralf Werner Tim M Strom Gabriele Gillessen-Kaesbach Frank J Kaiser

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:

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ejmg.2017.11.004	DOI Listing

November 2018

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

Authors:

Luitgard M Graul-Neumann Martin A Mensah Eva Klopocki Steffen Uebe Arif B Ekici Christian T Thiel André Reis Christiane Zweier

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ejmg.2018.01.016	DOI 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:

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.016	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673623	PMC

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.

Authors:

Karim Elhennawy Seif Reda Christian Finke Luitgard Graul-Neumann Paul-Georg Jost-Brinkmann Theodosia Bartzela

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1186/s13256-017-1387-z	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556355	PMC

August 2017

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.

Authors:

Sandra Chantot-Bastaraud Svea Stratmann Frédéric Brioude Matthias Begemann Miriam Elbracht Luitgard Graul-Neumann Madeleine Harbison Irène Netchine Thomas Eggermann

Mol Cytogenet 2017 25;10:28. Epub 2017 Jul 25.

Institute of Human Genetics, RWTH University Hospital Aachen, Pauwelsstr 30, D-52074 Aachen, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1186/s13039-017-0329-1	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526280	PMC

July 2017

DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Authors:

Nicola Dikow Martin Granzow Luitgard M Graul-Neumann Stephanie Karch Katrin Hinderhofer Nagarajan Paramasivam Laura-Jane Behl Lilian Kaufmann Christine Fischer Christina Evers Matthias Schlesner Roland Eils Guntram Borck Christiane Zweier Claus R Bartram John C Carey Ute Moog

Am J Med Genet A 2017 May 29;173(5):1369-1373. Epub 2017 Mar 29.

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/ajmg.a.38164	DOI Listing

May 2017

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

Authors:

Luitgard M Graul-Neumann Eva Klopocki Nicolai Adolphs Martin A Mensah Wolfram Kress

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

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1159/000455028	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465678	PMC

March 2017

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

Authors:

Eberhard Passarge Peter N Robinson Luitgard M Graul-Neumann

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/ejhg.2016.6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989216	PMC

August 2016

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Authors:

Katta Mohan Girisha Abdul Mueed Bidchol Luitgard Graul-Neumann Ashish Gupta Ute Hehr Davor Lessel Sean Nader Hitesh Shah Julia Wickert Kerstin Kutsche

BMC Med Genet 2016 Apr 6;17:27. Epub 2016 Apr 6.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1186/s12881-016-0290-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822278	PMC

April 2016

47 patients with FLNA associated periventricular nodular heterotopia.

Orphanet J Rare Dis 2015 Oct 15;10:134. Epub 2015 Oct 15.

Department of Human Genetics, University of Regensburg, Medical Center, Regensburg, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1186/s13023-015-0331-9	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608144	PMC

October 2015

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Circ Cardiovasc Genet 2015 Aug 11;8(4):572-581. Epub 2015 May 11.

Barts & The London School of Medicine & Dentistry, Queen Mary University of London, London, United Kingdom.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1161/CIRCGENETICS.115.001086	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545518	PMC

August 2015

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Authors:

Ya-Chun Chen Michaela Auer-Grumbach Shinya Matsukawa Manuela Zitzelsberger Andreas C Themistocleous Tim M Strom Chrysanthi Samara Adrian W Moore Lily Ting-Yin Cho Gareth T Young Caecilia Weiss Maria Schabhüttl Rolf Stucka Annina B Schmid Yesim Parman Luitgard Graul-Neumann Wolfram Heinritz Eberhard Passarge Rosemarie M Watson Jens Michael Hertz Ute Moog Manuela Baumgartner Enza Maria Valente Diego Pereira Carlos M Restrepo Istvan Katona Marina Dusl Claudia Stendel Thomas Wieland Fay Stafford Frank Reimann Katja von Au Christian Finke Patrick J Willems Michael S Nahorski Samiha S Shaikh Ofélia P Carvalho Adeline K Nicholas Gulshan Karbani Maeve A McAleer Maria Roberta Cilio John C McHugh Sinead M Murphy Alan D Irvine Uffe Birk Jensen Reinhard Windhager Joachim Weis Carsten Bergmann Bernd Rautenstrauss Jonathan Baets Peter De Jonghe Mary M Reilly Regina Kropatsch Ingo Kurth Roman Chrast Tatsuo Michiue David L H Bennett C Geoffrey Woods Jan Senderek

Nat Genet 2015 Aug;47(8):962

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/ng0815-962b	DOI Listing

August 2015

Transcriptional regulator PRDM12 is essential for human pain perception.

Authors:

Ya-Chun Chen Michaela Auer-Grumbach Shinya Matsukawa Manuela Zitzelsberger Andreas C Themistocleous Tim M Strom Chrysanthi Samara Adrian W Moore Lily Ting-Yin Cho Gareth T Young Caecilia Weiss Maria Schabhüttl Rolf Stucka Annina B Schmid Yesim Parman Luitgard Graul-Neumann Wolfram Heinritz Eberhard Passarge Rosemarie M Watson Jens Michael Hertz Ute Moog Manuela Baumgartner Enza Maria Valente Diego Pereira Carlos M Restrepo Istvan Katona Marina Dusl Claudia Stendel Thomas Wieland Fay Stafford Frank Reimann Katja von Au Christian Finke Patrick J Willems Michael S Nahorski Samiha S Shaikh Ofélia P Carvalho Adeline K Nicholas Gulshan Karbani Maeve A McAleer Maria Roberta Cilio John C McHugh Sinead M Murphy Alan D Irvine Uffe Birk Jensen Reinhard Windhager Joachim Weis Carsten Bergmann Bernd Rautenstrauss Jonathan Baets Peter De Jonghe Mary M Reilly Regina Kropatsch Ingo Kurth Roman Chrast Tatsuo Michiue David L H Bennett C Geoffrey Woods Jan Senderek

Nat Genet 2015 Jul 25;47(7):803-8. Epub 2015 May 25.

Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/ng.3308	DOI Listing

July 2015

Fetal intracardiac rhabdomyoma in beckwith-wiedemann syndrome.

Authors:

Ann Carolin Longardt Andreas Nonnenmacher Luitgard Graul-Neumann Bernd Opgen-Rhein Wolfgang Henrich Christoph Bührer Dieter Hüseman

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

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/jcu.22164	DOI 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.

Authors:

Anne Hoppe Jan Heinemeyer Eva Klopocki Luitgard M Graul-Neumann Birgit Spors Petra Bittigau Angela M Kaindl

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.

View Article

Download full-text PDF	Source
https://linkinghub.elsevier.com/retrieve/pii/S22145400130002	Publisher Site
http://dx.doi.org/10.1016/j.mgene.2013.10.014	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287802	PMC

December 2014

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Authors:

Christiane Zweier Olaf Rittinger Ingrid Bader Siren Berland Trevor Cole Franziska Degenhardt Nataliya Di Donato Luitgard Graul-Neumann Juliane Hoyer Sally Ann Lynch Ingrid Vlasak Dagmar Wieczorek

Am J Med Genet C Semin Med Genet 2014 Sep 5;166C(3):290-301. Epub 2014 Aug 5.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/ajmg.c.31408	DOI Listing

September 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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1126/scitranslmed.3009262	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639	PMC

September 2014

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

Authors:

Luitgard M Graul-Neumann Alexandra Deichsel Ulrike Wille Naseebullah Kakar Randi Koll Christian Bassir Jamil Ahmad Valerie Cormier-Daire Stefan Mundlos Christian Kubisch Guntram Borck Eva Klopocki Thomas D Mueller Sandra C Doelken Petra Seemann

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/ejhg.2013.222	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023204	PMC

June 2014

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

Authors:

Christiane Zweier Cornelia Kraus Louise Brueton Trevor Cole Franziska Degenhardt Hartmut Engels Gabriele Gillessen-Kaesbach Luitgard Graul-Neumann Denise Horn Juliane Hoyer Walter Just Anita Rauch André Reis Bernd Wollnik Michael Zeschnigk Hermann-Josef Lüdecke Dagmar Wieczorek

J Med Genet 2013 Dec 3;50(12):838-47. Epub 2013 Oct 3.

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1136/jmedgenet-2013-101918	DOI Listing

December 2013

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

Authors:

Miriam S Reuter Georg C Schwabe Christian Ehlers Christoph Marschall André Reis Christian Thiel Luitgard Graul-Neumann

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:

View Article

Download full-text PDF	Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212130022	Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2013.10.002	DOI Listing

December 2013

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

J Med Genet 2013 May 1;50(5):309-23. Epub 2013 Mar 1.

Molecular Medicine Unit, Birth Defects Research Centre, University College London UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1136/jmedgenet-2012-101284	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627132	PMC

May 2013

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Authors:

Gabriele Wildhardt Birgit Zirn Luitgard M Graul-Neumann Juliane Wechtenbruch Markus Suckfüll Annegret Buske Axel Bohring Christian Kubisch Stefanie Vogt Gertrud Strobl-Wildemann Marie Greally Oliver Bartsch Daniela Steinberger

BMJ Open 2013 Mar 18;3(3). Epub 2013 Mar 18.

bio.logis Center for Human Genetics, Frankfurt am Main, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1136/bmjopen-2012-001917	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3612789	PMC

March 2013

A novel RAB33B mutation in Smith-McCort dysplasia.

Authors:

Nina Dupuis Sophie Lebon Manoj Kumar Séverine Drunat Luitgard M Graul-Neumann Pierre Gressens Vincent El Ghouzzi

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

Inserm, U676, Paris, France.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/humu.22235	DOI Listing

February 2013

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

Authors:

Sandra C Doelken Karl Seeger Patrick Hundsdoerfer Wencke Weber-Ferro Eva Klopocki Luitgard Graul-Neumann

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/ajmg.a.35695	DOI Listing

January 2013

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Neurology 2013 Jan 2;80(5):438-46. Epub 2013 Jan 2.

Institute of Human Genetics, Medical Faculty, University Hospital Aachen, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1212/WNL.0b013e31827f0f66	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590055	PMC

January 2013

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

Authors:

Nicolai Adolphs Eric Arnaud Ernst-Johannes Haberl Luitgard Graul-Neumann Gül Schmidt Horst Menneking Bodo Hoffmeister

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.jcms.2011.11.003	DOI Listing

December 2012

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

Authors:

Sophia M Bous Benjamin D Solomon Luitgard Graul-Neumann Heidemarie Neitzel Emily E Hardisty Maximilian Muenke

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.

View Article

Download full-text PDF	Source
https://insights.ovid.com/crossref?an=00019605-201210000-000	Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e3283551fd0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131985	PMC

October 2012

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

Nat Genet 2012 Apr 29;44(6):704-8. Epub 2012 Apr 29.

Department of Neurology, University of California, Los Angeles, California, USA.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/ng.2254	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366034	PMC

April 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.

Authors:

Nicolai Adolphs Martin Klein Ernst Johannes Haberl Luitgard Graul-Neumann Horst Menneking Bodo Hoffmeister

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.jcms.2010.11.016	DOI Listing

December 2011

New mutations in the ATM gene and clinical data of 25 AT patients.

Neurogenetics 2011 Nov 2;12(4):273-82. Epub 2011 Oct 2.

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1007/s10048-011-0299-0	DOI Listing

November 2011

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

Authors:

Nicolai Adolphs Martin Klein Ernst-Johannes Haberl Luitgard Graul-Neumann Horst Menneking Bodo Hoffmeister

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.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.jcms.2010.10.026	DOI Listing

October 2011

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

Authors:

Andreas Busche Luitgard M Graul-Neumann Christiane Zweier Anita Rauch Eva Klopocki Denise Horn

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

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ejmg.2011.02.002	DOI Listing

September 2011

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.

Authors:

Juan Alberto Marchal Mahdi Ghani Detlev Schindler Ioannis Gavvovidis Tina Winkler Veronique Esquitino Nadine Sternberg Andreas Busche Peter Krawitz Joachim Hecht Peter Robinson Stephan Mundlos Luitgard Graul-Neumann Karl Sperling Marc Trimborn Heidemarie Neitzel

Cell Cycle 2011 Sep 1;10(17):2967-77. Epub 2011 Sep 1.

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

View Article

Download full-text PDF	Source
http://www.tandfonline.com/doi/abs/10.4161/cc.10.17.16871	Publisher Site
http://dx.doi.org/10.4161/cc.10.17.16871	DOI Listing

September 2011

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

Authors:

Jan Idkowiak Stephen O'Riordan Nicole Reisch Ewa M Malunowicz Felicity Collins Michiel N Kerstens Birgit Köhler Luitgard Margarete Graul-Neumann Maria Szarras-Czapnik Mehul Dattani Martin Silink Cedric H L Shackleton Dominique Maiter Nils Krone Wiebke Arlt

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.

View Article

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3124345	PMC
http://dx.doi.org/10.1210/jc.2010-1607	DOI Listing

March 2011

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

Authors:

Luitgard M Graul-Neumann Tina Kienitz Peter N Robinson Sevjidmaa Baasanjav Benjamin Karow Gabriele Gillessen-Kaesbach Raimund Fahsold Hartmut Schmidt Katrin Hoffmann Eberhard Passarge

Am J Med Genet A 2010 Nov;152A(11):2749-55

Institut für Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/ajmg.a.33690	DOI Listing

November 2010

Digital necroses and vascular thrombosis in severe spinal muscular atrophy.

Authors:

Sabine Rudnik-Schöneborn Silke Vogelgesang Sven Armbrust Luitgard Graul-Neumann Christoph Fusch Klaus Zerres

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

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

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/mus.21654	DOI Listing

July 2010

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.

Authors:

Andreas Tzschach Anne-Marie Bisgaard Maria Kirchhoff Luitgard M Graul-Neumann Heidemarie Neitzel Stephanie Page Alischo Ahmed Ines Müller Fikret Erdogan Hans-Hilger Ropers Vera M Kalscheuer Reinhard Ullmann

Eur J Hum Genet 2010 Mar 21;18(3):291-5. Epub 2009 Oct 21.

Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF	Source
http://www.nature.com/articles/ejhg2009163	Publisher Site
http://dx.doi.org/10.1038/ejhg.2009.163	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987210	PMC