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Stefan Mundlos

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Malte Spielmann; Stefan Mundlos
Structural variations, the regulatory landscape of the genome and their alteration in human disease.
Peter M Krawitz; Ulrike Krüger; Stefan Mundlos; Yoshiko Murakami; Angelika Rieß; Peter N Robinson; Na Zhu; Jochen Hecht; Marja Hietala; Taroh Kinoshita; Denise Horn
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Maria Arélin; Christian Becker; Alexander Diers; Denise Horn; Tom H Lindner; Bertram Müller-Myhsok; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Bernt Schulze; Karl Sperling; Birgit Uhlenberg; Katrin Hoffmann
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

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All Publications

2013: Malte Spielmann; Stefan Mundlos
Structural variations, the regulatory landscape of the genome and their alteration in human disease.
BioEssays : news and reviews in molecular, cellular and developmental biology 2013;35(6):533-43.
2013: Peter M Krawitz; Ulrike Krüger; Stefan Mundlos; Yoshiko Murakami; Angelika Rieß; Peter N Robinson; Na Zhu; Jochen Hecht; Marja Hietala; Taroh Kinoshita; Denise Horn
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
American journal of human genetics 2013;92(4):584-9.
2013: Maria Arélin; Christian Becker; Alexander Diers; Denise Horn; Tom H Lindner; Bertram Müller-Myhsok; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Bernt Schulze; Karl Sperling; Birgit Uhlenberg; Katrin Hoffmann
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
European journal of human genetics : EJHG 2013;21(4):367-72.
2013: Daniel Kotlarz; Peter M Krawitz; Hans Kreipe; Monica G Lawrence; Joshua D Milner; Susan Moir; Stefan Mundlos; Dietmar Pfeifer; Eva-Doreen Pfister; Peter N Robinson; Alejandro A Schäffer; Axel Schambach; Petra Schwille; Gulbu Uzel; Thomas Weidemann; Jacek Puchałka; Natalia Zietara; Ulrich Baumann; Christian J Braun; Jana Diestelhorst; E Michael Gertz; Eric P Hanson; Jochen Hecht; Roland Jacobs; Lela Kardava; Christoph Klein
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
The Journal of experimental medicine 2013;210(3):433-43.
2013: Umm-e- Kalsoom; Saadullah Khan; Eva Klopocki; Peter Krawitz; Stefan Mundlos; Muhammad Tariq; Naveed Wasif; Jochen Hecht; Wasim Ahmad
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.
Journal of medical genetics 2013;50(1):47-53.
2012: Björn Fischer; Thatjana Gardeitchik; Neerja Gupta; Julia Heusel; Dominik Jost; Madhulika Kabra; Hülya Kayserili; Alexa Kidd; Elisabeth Mangold; Eva Morava; Stefan Mundlos; Arti Nanda; Reto I Peirano; Shubha Phadke; Iliana Tantcheva-Poor; Lionel Van Maldergem; Ron A Wevers; Yasemin Alanay; Elisabeth Berry-Kravis; Cornelia Daumer-Haas; Charu Desphande; Aikaterini Dimopoulou; Johannes Egerer; Emma Felix; Uwe Kornak
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Human genetics 2012;131(11):1761-73.
2012: Malte Spielmann; Bernd Timmermann; Lars Wittler; Anna Maria Nardone; Peter N Robinson; frederick brancati; Danny Chan; Katarina Dathe; Paola Ferrari; Martin Franke; Jochen Hecht; Daniel M Ibrahim; Eva Klopocki; Peter M Krawitz; Antonio Landi; Silke Lohan; Ulrich Mennen; Stefan Mundlos
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
American journal of human genetics 2012;91(4):629-35.
2012: Peter M Krawitz; Ulrike Krüger; Geert R Mortier; Stefan Mundlos; Yoshiko Murakami; Peter Robinson; Tony Roscioli; Miles D Thompson; Elfride De Baere; Barbara Delle Chiaie; Jochen Hecht; Susan E Holder; Szymon Kielbasa; Taroh Kinoshita; Denise Horn
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
American journal of human genetics 2012;91(1):146-51.
2012: Claus Eric Ott; Sigmar Stricker; Pablo Villavicencio-Lorini; Nicola Foulds; Johannes Grünhagen; Hendrikje Hein; Jeannette Hoogeboom; Eva Klopocki; Silke Lohan; Stefan Mundlos
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.
Journal of medical genetics 2012;49(7):437-41.
2012: Jill A Rosenfeld; G Bradley Schaefer; Lisa G Shaffer; Ryan N Traylor; Arthur S Aylsworth; Blake C Ballif; Eva Klopocki; Elizabeth W McPherson; Stefan Mundlos
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
European journal of human genetics : EJHG 2012;20(7):754-61.
2012: Eva Klopocki; Rainer Bald; Regina Besoke; Nicola Foulds; Karsten Held; Benjamin Joseph; Christian Kähler; Sabine Lüttgen; Stefan Mundlos; Hitesh Shah; Hermann Vogel; Ingo Kurth
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
European journal of human genetics : EJHG 2012;20(6):705-8.
2012: Verena Heinrich; Peter Imkeller; Sebastian Bauer; Thorsten Dickhaus; Jochen Hecht; Ulrike Krüger; Stefan Mundlos; Peter N Robinson; Jens Stange; Peter M Krawitz
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.
Nucleic acids research 2012;40(6):2426-31.
2012: Sigmar Stricker; Petra Seemann; Julia Haupt; Susanne Mathia; Julia Meier; Stefan Mundlos
Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells.
Stem cells and development 2012;21(4):623-33.
2012: Yoshiko Murakami; Peter N Robinson; Kazunobu Saito; Noriyuki Kanzawa; Anastasios Karadimitris; Peter M Krawitz; Yusuke Maeda; Stefan Mundlos; Taroh Kinoshita
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.
The Journal of biological chemistry 2012;287(9):6318-25.
2012: Eva Klopocki; Ulrike Kordass; Ingo Kurth; Karina Lezirovitz; Silke Lohan; Outi Mäkitie; Regina Celia Mingroni Netto; Mohammed Naveed; Charlotte W Ockeloen; Uppala Radhakrishna; Anna Rajab; Hitesh Shah; Renata Soares Thiele de Aguiar; Sigmar Stricker; Matthew Warman; Stylianos E Antonarakis; koenraad devriendt; Sandra C Doelken; Rolf Habenicht; Maja Hempel; Denise Horn; Aleksander Jamsheer; Stefan Mundlos
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Journal of medical genetics 2012;49(2):119-25.
2011: Olga Blau; Thomas Burmeister; Wolf-Karsten Hofmann; Ulrich Keilholz; Mara Molkentin; Stefan Mundlos; Florian Nolte; Elke Schümann; Annette Sindram; Eckhard Thiel; Gundula Thiel; Seval Türkmen; Claudia D Baldus; Ouidad Benlasfer; Igor Wolfgang Blau
Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts.
Blood 2011;118(20):5583-92.
2011: C Lange; C Li; Inderchand Manjubala; Stefan Mundlos; Wolfgang Wagermaier; P Knaus; Mateusz Kolanczyk; J Kühnisch; Peter Fratzl
Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite.
Journal of structural biology 2011;176(2):159-67.
2011: Patrick Rump; Birgit Sikkema-Raddatz; Jan D H Jongbloed; Eva Klopocki; Stefan Mundlos; Rob B van der Luijt
Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.
American journal of medical genetics. Part A 2011;155A(10):2566-70.
2011: Eva Klopocki; Stefan Mundlos
Copy-number variations, noncoding sequences, and human phenotypes.
Annual review of genomics and human genetics 2011;12():53-72.
2011: Juan Alberto Marchal; Stefan Mundlos; Andreas Busche; Veronique Esquitino; Ioannis Gavvovidis; Mahdi Ghani; Luitgard Graul-Neumann; Joachim Hecht; Peter Krawitz; Peter Robinson; Detlev Schindler; Karl Sperling; Nadine Sternberg; Marc Trimborn; Tina Winkler; Heidemarie Neitzel
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.
Cell cycle (Georgetown, Tex.) 2011;10(17):2967-77.
2011: Peter N Robinson; P Krawitz; Stefan Mundlos
Strategies for exome and genome sequence data analysis in disease-gene discovery projects.
Clinical genetics 2011;80(2):127-32.
2011: Sevjidmaa Baasanjav; Christian Becker; Vincent Cantagrel; Bjoern Fischer; Joseph G Gleeson; Delphine Gomez; Taishi Hashiguchi; Denise Horn; Ruth Langer; Tom H Lindner; Jean-Baptiste Michel; Shuji Mizumoto; Stefan Mundlos; Gudrun Nürnberg; Peter Nürnberg; Ahmed A H Saleh; Dominik Seelow; Sigmar Stricker; Kazuyuki Sugahara; Lihadh Al-Gazali; bassam rushdi ali; Samir A A Aziz; Katrin Hoffmann
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.
American journal of human genetics 2011;89(1):15-27.
2011: Nadine Kossler; Jirko Kühnisch; Stefan Mundlos; Monika Osswald; Peter N Robinson; Christian Rödelsperger; David A Stevenson; Sigmar Stricker; Thomas Braun; Carola Dietrich; Johnny Kim; Mateusz Kolanczyk
Neurofibromin (Nf1) is required for skeletal muscle development.
Human molecular genetics 2011;20(14):2697-709.
2011: Malte Spielmann; Marc Trimborn; Christoph Hertzberg; Denise Horn; Stefan Mundlos; Gabriele Reichelt; Eva Klopocki
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
European journal of medical genetics 2011;54(4):e441-5.
2011: Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Nosology and classification of genetic skeletal disorders: 2010 revision.
American journal of medical genetics. Part A 2011;155A(5):943-68.
2011: Sigmar Stricker; Stefan Mundlos
Mechanisms of digit formation: Human malformation syndromes tell the story.
Developmental dynamics : an official publication of the American Association of Anatomists 2011;240(5):990-1004.
2011: Shelagh Joss; Usha Kini; Richard Fisher; Stefan Mundlos; Katrina Prescott; Ruth Newbury-Ecob; John Tolmie
The face of Ulnar Mammary syndrome?
European journal of medical genetics 2011;54(3):301-5.
2011: Michael Kerschnitzki; Wolfgang Wagermaier; Paul Roschger; Jong Seto; Ron Shahar; Georg N Duda; Stefan Mundlos; Peter Fratzl
The organization of the osteocyte network mirrors the extracellular matrix orientation in bone.
Journal of structural biology 2011;173(2):303-11.
2011: Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C W Ng; Wilson Chan; Danny Chan; Stefan Mundlos
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
American journal of human genetics 2011;88(1):70-5.
2011: Sigmar Stricker; Stefan Mundlos
FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development.
Current topics in developmental biology 2011;97():179-206.
2011: Mateusz Kolanczyk; Nadine Kossler; Jirko Kühnisch; Victor Mautner; Stefan Mundlos; Rosa Nguyen; Su-Jin Park; Boris Thurisch; Sigrid Tinschert; Eike Wegener; Tomasz Zemojtel; Patricia Birch; Anja Harder; Nikola Holtkamp; Aleksander Jamsheer; David Kendler; Lan Kluwe
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
BMC medicine 2011;9():82.
2011: Marten Jäger; Claus-Eric Ott; Johannes Grünhagen; Jochen Hecht; Hanna Schell; Stefan Mundlos; Georg N Duda; Peter Robinson; Jasmin Lienau
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing.
BMC genomics 2011;12():158.
2011: Claus Eric Ott; Johannes Grünhagen; Marten Jäger; Daniel Horbelt; Simon Schwill; Klaus Kallenbach; Gao Guo; Thomas Manke; Petra Knaus; Stefan Mundlos; Peter Robinson
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites.
PloS one 2011;6(1):e16250.
2011: Graciana Diez-Roux; Sandro Banfi; Marc Sultan; Lars Geffers; Santosh Anand; David Rozado; Alon Magen; Elena Canidio; Massimiliano Pagani; Ivana Peluso; Nathalie Lin-Marq; Muriel Koch; Marchesa Bilio; Immacolata Cantiello; Roberta Verde; Cristian De Masi; Salvatore A Bianchi; Juliette Cicchini; Elodie Perroud; Shprese Mehmeti; Emilie Dagand; Sabine Schrinner; Asja Nürnberger; Katja Schmidt; Katja Metz; Christina Zwingmann; Norbert Brieske; Cindy Springer; Ana Martinez Hernandez; Sarah Herzog; Frauke Grabbe; Cornelia Sieverding; Barbara Fischer; Kathrin Schrader; Maren Brockmeyer; Sarah Dettmer; Christin Helbig; Violaine Alunni; Marie-Annick Battaini; Carole Mura; Charlotte N Henrichsen; Raquel Garcia-Lopez; Diego Echevarria; Eduardo Puelles; Elena Garcia-Calero; Stefan Kruse; Markus Uhr; Christine Kauck; Guangjie Feng; Nestor Milyaev; Chuang Kee Ong; Lalit Kumar; MeiSze Lam; Colin A Semple; Attila Gyenesei; Stefan Mundlos; Uwe Radelof; Hans Lehrach; Paolo Sarmientos; Alexandre Reymond; Duncan R Davidson; Pascal Dollé; Stylianos E Antonarakis; Marie-Laure Yaspo; Salvador Martinez; Richard A Baldock; Gregor Eichele; Andrea Ballabio
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
PLoS biology 2011;9(1):e1000582.
2011: Mateusz Kolanczyk; Markus Pech; Tomasz Zemojtel; Hiroshi Yamamoto; Ivan Mikula; Maria-Antonietta Calvaruso; Mariël van den Brand; Ricarda Richter; Bjoern Fischer; Anita Ritz; Nadine Kossler; Boris Thurisch; Ralf Spoerle; jan smeitink; Uwe Kornak; Danny Chan; Martin Vingron; Pavel Martasek; Robert N Lightowlers; Leo G J Nijtmans; Markus Schuelke; Knud H Nierhaus; Stefan Mundlos
NOA1 is an essential GTPase required for mitochondrial protein synthesis.
Molecular biology of the cell 2011;22(1):1-11.
2010: Anja Harder; Sabrina Titze; Lena Herbst; Thomas Harder; Katrin Guse; Sigrid Tinschert; Dieter Kaufmann; Thorsten Rosenbaum; Victor-Felix Mautner; Elke Windt; Ute Wahlländer-Danek; Katharina Wimmer; Stefan Mundlos; Hartmut Peters
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2010;13(6):582-94.
2010: Didier Lacombe; Marie-Ange Delrue; Caroline Rooryck; Fanny Morice-Picard; Benoît Arveiler; Brigitte Maugey-Laulom; Stefan Mundlos; Annick Toutain; Jean-François Chateil
Brachydactyly type A1 with short humerus and associated skeletal features.
American journal of medical genetics. Part A 2010;152A(12):3016-21.
2010: Piranit N Kantaputra; Eva Klopocki; Bianca P Hennig; Verayuth Praphanphoj; Cédric Le Caignec; Bertrand Isidor; Mei L Kwee; Deborah J Shears; Stefan Mundlos
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
European journal of human genetics : EJHG 2010;18(12):1310-4.
2010: Piranit N Kantaputra; Stefan Mundlos; Warissara Sripathomsawat
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
American journal of medical genetics. Part A 2010;152A(11):2832-7.
2010: Peter M Krawitz; Michal R Schweiger; Christian Rödelsperger; Carlo Marcelis; Uwe Kölsch; Christian Meisel; Friederike Stephani; Taroh Kinoshita; Yoshiko Murakami; Sebastian Bauer; Melanie Isau; Axel Fischer; Andreas Dahl; Martin Kerick; Jochen Hecht; Sebastian Köhler; Marten Jäger; Johannes Grünhagen; Birgit Jonske de Condor; Sandra Doelken; Han G Brunner; Peter Meinecke; Eberhard Passarge; Miles D Thompson; David E Cole; Denise Horn; Tony Roscioli; Stefan Mundlos; Peter N Robinson
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Nature genetics 2010;42(10):827-9.
2010: Francesco Brancati; Paola Fortugno; Irene Bottillo; Marc Lopez; Emmanuelle Josselin; Omar Boudghene-Stambouli; Emanuele Agolini; Laura Bernardini; Emanuele Bellacchio; Miriam Iannicelli; Alfredo Rossi; Amina Dib-Lachachi; Liborio Stuppia; Giandomenico Palka; Stefan Mundlos; Sigmar Stricker; Uwe Kornak; Giovanna Zambruno; Bruno Dallapiccola
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
American journal of human genetics 2010;87(2):265-73.
2010: Florian Witte; Danny Chan; Aris N Economides; Stefan Mundlos; Sigmar Stricker
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(32):14211-6.
2010: Claus E Ott; Gundula Leschik; Fabienne Trotier; Louise Brueton; Han G Brunner; Wim Brussel; Encarna Guillen-Navarro; Claudia Haase; Juergen Kohlhase; Dieter Kotzot; Andrew Lane; Min Ae Lee-Kirsch; Susanne Morlot; Marleen E H Simon; Elisabeth Steichen-Gersdorf; David H Tegay; Hartmut Peters; Stefan Mundlos; Eva Klopocki
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Human mutation 2010;31(8):E1587-93.
2010: Peter Clayton; Ilja Demuth; Björn Fischer; Sophia Gravemann; Sevjidmaa Baasanjav; Katja Brossuleit; Mohsen Karbasyian; Moritz Kieslich; Christine Lang; Anuska Mann; Sahar Mansour; Stefan Mundlos; Eva Rossier; Nele Schnipper; Karl Sperling; Sigmar Stricker; Gerd Utermann; Amparo Vaya; Markus Veen; Monika Zwerger; Katrin Hoffmann
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Nucleus (Austin, Tex.) 2010;1(4):354-66.
2010: Florian Witte; Ondrej Bernatik; Katharina Kirchner; Jan Masek; Annika Mahl; Pavel Krejci; Stefan Mundlos; Alexandra Schambony; Vitezslav Bryja; Sigmar Stricker
Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2010;24(7):2417-26.
2010: Andreas Ratzka; Stefan Mundlos; Andrea Vortkamp
Expression patterns of sulfatase genes in the developing mouse embryo.
Developmental dynamics : an official publication of the American Association of Anatomists 2010;239(6):1779-88.
2010: Pablo Villavicencio-Lorini; Pia Kuss; Julia Friedrich; Julia Haupt; Muhammed Farooq; Seval Türkmen; Denis Duboule; Jochen Hecht; Stefan Mundlos
Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation.
The Journal of clinical investigation 2010;120(6):1994-2004.
2010: Peter Robinson; Stefan Mundlos
The human phenotype ontology.
Clinical genetics 2010;77(6):525-34.
2010: Anja Weise; Bernd Timmermann; Manfred Grabherr; Martin Werber; Patricia Heyn; Nadezda Kosyakova; Thomas Liehr; Heidemarie Neitzel; Kateryna Konrat; Christiane Bommer; Carola Dietrich; Anna Rajab; Richard Reinhardt; Stefan Mundlos; Tom H Lindner; Katrin Hoffmann
High-throughput sequencing of microdissected chromosomal regions.
European journal of human genetics : EJHG 2010;18(4):457-62.
2010: Eva Klopocki; Bianca P Hennig; Katarina Dathe; Randi Koll; Thomy de Ravel; Emiel Baten; Eveline Blom; Yves Gillerot; Johannes F W Weigel; Gabriele Krüger; Olaf Hiort; Petra Seemann; Stefan Mundlos
Deletion and point mutations of PTHLH cause brachydactyly type E.
American journal of human genetics 2010;86(3):434-9.
2010: Sevjidmaa Baasanjav; Aleksander Jamsheer; Mateusz Kolanczyk; Denise Horn; Tomasz Latos; Katrin Hoffmann; Anna Latos-Bielenska; Stefan Mundlos
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
BMC medical genetics 2010;11():110.
2010: Frantisek Liska; P Snajdr; S Stricker; C Gosele; Drahomíra Krenová; Stefan Mundlos; Norbert Hubner
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutation.
Folia biologica 2010;56(2):58-65.
2010: Ion C Cirstea; Kerstin Kutsche; Radovan Dvorsky; Lothar Gremer; Claudio Carta; Denise Horn; Amy E Roberts; Francesca Lepri; Torsten Merbitz-Zahradnik; Rainer König; Christian P Kratz; Francesca Pantaleoni; Maria L Dentici; Victoria A Joshi; Raju S Kucherlapati; Laura Mazzanti; Stefan Mundlos; Michael A Patton; Margherita Cirillo Silengo; Cesare Rossi; Giuseppe Zampino; Cristina Digilio; Liborio Stuppia; Eva Seemanova; Len A Pennacchio; Bruce D Gelb; Bruno Dallapiccola; Alfred Wittinghofer; Mohammad R Ahmadian; Marco Tartaglia; Martin Zenker
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Nature genetics 2010;42(1):27-9.
2009: Nicole Verhey van Wijk; Florian Witte; Ann Carolin Feike; Alexandra Schambony; Walter Birchmeier; Stefan Mundlos; Sigmar Stricker
The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling.
Biochemical and biophysical research communications 2009;390(2):211-6.
2009: Wenke Seifert; Julia Beninde; Katrin Hoffmann; Tom H Lindner; Christian Bassir; Fuat Aksu; Christoph Hübner; Nienke E Verbeek; Stefan Mundlos; Denise Horn
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
European journal of human genetics : EJHG 2009;17(12):1570-6.
2009: Petra Seemann; Anja Brehm; Jana König; Carsten Reissner; Sigmar Stricker; Pia Kuss; Julia Haupt; Stephanie Renninger; Joachim Nickel; Walter Sebald; Jay C Groppe; Frank Plöger; Jens Pohl; Mareen Schmidt-von Kegler; Maria Walther; Ingmar Gassner; Cristina Rusu; Andreas R Janecke; Katarina Dathe; Stefan Mundlos
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
PLoS genetics 2009;5(11):e1000747.
2009: Qi Shen; Shawn Little; Meiqi Xu; Julia Haupt; Cindy Ast; Takenobu Katagiri; Stefan Mundlos; Petra Seemann; Frederick S Kaplan; Mary C Mullins; Eileen M Shore
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization.
The Journal of clinical investigation 2009;119(11):3462-72.
2009: Wibke Schwarzer; Florian Witte; Anna Rajab; Stefan Mundlos; Sigmar Stricker
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
Human molecular genetics 2009;18(21):4013-21.
2009: Véronique Dutrannoy; Eva Klopocki; Ran Wei; Christiane Bommer; Stefan Mundlos; Luitgard M Graul-Neumann; Marc Trimborn
De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.
European journal of medical genetics 2009;52(6):450-3.
2009: Sebastian Köhler; Marcel H Schulz; Peter Krawitz; Sebastian Bauer; Sandra Dölken; Claus E Ott; Christine Mundlos; Denise Horn; Stefan Mundlos; Peter Robinson
Clinical diagnostics in human genetics with semantic similarity searches in ontologies.
American journal of human genetics 2009;85(4):457-64.
2009: Florent Elefteriou; Mateusz Kolanczyk; Aaron Schindeler; David H Viskochil; Janet Hock; Elizabeth K Schorry; Alvin H Crawford; Jan M Friedman; David Little; Juha Peltonen; John C Carey; David Feldman; Xijie Yu; Linlea Armstrong; Patricia Birch; David L Kendler; Stefan Mundlos; Feng-Chun Yang; Gina Agiostratidou; Kim Hunter-Schaedle; David A Stevenson
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.
American journal of medical genetics. Part A 2009;149A(10):2327-38.
2009: Bruno Reversade; Nathalie Escande-Beillard; Aikaterini Dimopoulou; Björn Fischer; Serene C Chng; Yun Li; Mohammad Shboul; Puay-Yoke Tham; Hülya Kayserili; Lihadh Al-Gazali; Monzer Shahwan; Francesco Brancati; Hane Lee; Brian D O'Connor; Mareen Schmidt-von Kegler; Barry Merriman; Stanley F Nelson; Amira Masri; Fawaz Alkazaleh; Deanna Guerra; Paola Ferrari; Arti Nanda; Anna Rajab; David Markie; Mary Gray; John Nelson; Arthur Grix; Annemarie Sommer; Ravi Savarirayan; Andreas R Janecke; Elisabeth Steichen; David Sillence; Ingrid Hausser; Birgit Budde; Gudrun Nürnberg; Peter Nürnberg; Petra Seemann; Désirée Kunkel; Giovanna Zambruno; Bruno Dallapiccola; Markus Schuelke; Stephen Robertson; Hanan Hamamy; Bernd Wollnik; Lionel Van Maldergem; Stefan Mundlos; Uwe Kornak
Mutations in PYCR1 cause cutis laxa with progeroid features.
Nature genetics 2009;41(9):1016-21.
2009: F H Bieler; C E Ott; Mark S Thompson; R Seidel; S Ahrens; Epari Devakar; U Wilkening; K D Schaser; Stefan Mundlos; Georg N Duda
Biaxial cell stimulation: A mechanical validation.
Journal of biomechanics 2009;42(11):1692-6.
2009: Stefan Mundlos
The brachydactylies: a molecular disease family.
Clinical genetics 2009;76(2):123-36.
2009: Ingo Kurth; Eva Klopocki; Sigmar Stricker; Jolieke van Oosterwijk; Sebastian Vanek; Jens Altmann; Heliosa G Santos; Jeske J T van Harssel; Thomy de Ravel; Andrew O M Wilkie; Andreas Gal; Stefan Mundlos
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.
Nature genetics 2009;41(8):862-3.
2009: Klaus W Kjaer; Mehmet Tiner; Sultan Cingoz; Vasfi Karatosun; Niels Tommerup; Stefan Mundlos; Izge Gunal
A novel subtype of distal symphalangism affecting only the 4th finger.
American journal of medical genetics. Part A 2009;149A(7):1571-3.
2009: Claus-Eric Ott; Sebastian Bauer; Thomas Manke; Susan Ahrens; Christian Rödelsperger; Johannes Grünhagen; Uwe Kornak; Georg Duda; Stefan Mundlos; Peter Robinson
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009;24(7):1247-62.
2009: Vishwanathan Hucthagowder; Eva Morava; Uwe Kornak; Dirk J Lefeber; Björn Fischer; Aikaterini Dimopoulou; Annika Aldinger; Jiwon Choi; Elaine C Davis; Dianne N Abuelo; Maciej Adamowicz; Jumana Al-Aama; Lina Basel-Vanagaite; Bridget Fernandez; Marie T Greally; Gabriele Gillessen-Kaesbach; Hulya Kayserili; Emmanuelle Lemyre; Mustafa Tekin; Seval Türkmen; Beyhan Tuysuz; Berrin Yüksel-Konuk; Stefan Mundlos; Lionel Van Maldergem; Ron A Wevers; Zsolt Urban
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Human molecular genetics 2009;18(12):2149-65.
2009: Seval Türkmen; Gao Guo; Masoud Garshasbi; Katrin Hoffmann; Amjad J Alshalah; Claudia Mischung; Andreas Kuss; Nicholas Humphrey; Stefan Mundlos; Peter Robinson
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
PLoS genetics 2009;5(5):e1000487.
2009: Bo Gao; Jianxin Hu; Sigmar Stricker; Martin Cheung; Gang Ma; Kit Fong Law; Florian Witte; James Briscoe; Stefan Mundlos; Lin He; Kathryn S E Cheah; Danny Chan
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
Nature 2009;458(7242):1196-200.
2009: Katarina Dathe; Klaus W Kjaer; Anja Brehm; Peter Meinecke; Peter Nürnberg; Jordao C Neto; Decio Brunoni; Nils Tommerup; Claus E Ott; Eva Klopocki; Petra Seemann; Stefan Mundlos
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.
American journal of human genetics 2009;84(4):483-92.
2009: Beyhan Tuysuz; S Mizumoto; K Sugahara; A Celebi; Stefan Mundlos; Sahruh Turkmen
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Clinical genetics 2009;75(4):375-83.
2009: Florian Witte; Janine Dokas; Franziska Neuendorf; Stefan Mundlos; Sigmar Stricker
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation.
Gene expression patterns : GEP 2009;9(4):215-23.
2009: Frederick S Kaplan; Meiqi Xu; Petra Seemann; J Michael Connor; David L Glaser; Liam Carroll; Patricia Delai; Elisabeth Fastnacht-Urban; Stephen J Forman; Gabriele Gillessen-Kaesbach; Julie E Hoover-Fong; Bernhard Köster; Richard M Pauli; William Reardon; Syed-Adeel Zaidi; Michael Zasloff; Rolf Morhart; Stefan Mundlos; Jay Groppe; Eileen M Shore
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Human mutation 2009;30(3):379-90.
2009: Pia Kuss; Pablo Villavicencio-Lorini; Florian Witte; Joachim Klose; Andrea N Albrecht; Petra Seemann; Jochen Hecht; Stefan Mundlos
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
The Journal of clinical investigation 2009;119(1):146-56.
2008: William G Newman; Jill Clayton-Smith; Kay Metcalfe; Rachel Cole; Marco Tartaglia; Francesco Brancati; Sara Morara; Antonio Novelli; Xiangdong Liu; Katherine A Siminovitch; Stefan Mundlos; May Tassabehji; Graeme C M Black
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
American journal of medical genetics. Part A 2008;146A(23):3034-7.
2008: Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R Wilcox; Dietmar Müller; Paige B Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nature genetics 2008;40(12):1410-2.
2008: Omer Nuri Pamuk; Stefan Mundlos; Necati Cakir
Cleidocranial dysplasia in a mother and her two children.
Joint, bone, spine : revue du rhumatisme 2008;75(6):725-7.
2008: Elisabeth Steichen-Gersdorf; I Gassner; andrea superti-furga; R Ullmann; S Stricker; E Klopocki; Stefan Mundlos
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Clinical genetics 2008;74(6):560-5.
2008: Lionel Van Maldergem; M Yuksel-Apak; H Kayserili; E Seemanova; S Giurgea; L Basel-Vanagaite; E Leao-Teles; J Vigneron; M Foulon; M Greally; J Jaeken; Stefan Mundlos; W B Dobyns
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Neurology 2008;71(20):1602-8.
2008: Peter Robinson; Sebastian Köhler; Sebastian Bauer; Dominik Seelow; Denise Horn; Stefan Mundlos
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
American journal of human genetics 2008;83(5):610-5.
2008: Nicola Brunetti-Pierri; Daniela del Gaudio; Hartmut Peters; Henri Justino; Claus-Eric Ott; Stefan Mundlos; Carlos A Bacino
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
American journal of medical genetics. Part A 2008;146A(21):2804-9.
2008: Andreas Winkel; Sigmar Stricker; Przemko Tylzanowski; Virginia Seiffart; Stefan Mundlos; Gerhard Gross; Andrea Hoffmann
Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling.
Cellular signalling 2008;20(11):2134-44.
2008: Andreas Busche; Eva Klopocki; Reinhard Ullmann; Stefan Mundlos; Denise Horn
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
European journal of medical genetics 2008;51(6):615-21.
2008: Jae-Hwan Jeong; Jung-Sook Jin; Hyun-Nam Kim; Sang-Min Kang; Julie C Liu; Christopher J Lengner; Florian Otto; Stefan Mundlos; Janet L Stein; Andre J van Wijnen; Jane B Lian; Gary S Stein; Je-Yong Choi
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain.
Journal of cellular physiology 2008;217(2):511-7.
2008: Seval Türkmen; K Hoffmann; Osman Demirhan; Defne Aruoba; N Humphrey; Stefan Mundlos
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
European journal of human genetics : EJHG 2008;16(9):1070-4.
2008: Sofia Douzgou; Katarina Lehmann; Rita Mingarelli; Stefan Mundlos; Bruno Dallapiccola
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
American journal of medical genetics. Part A 2008;146A(16):2116-21.
2008: Eva Klopocki; Luitgard M Graul-Neumann; Ulrike Grieben; Holger Tönnies; Hans-Hilger Ropers; Denise Horn; Stefan Mundlos; Reinhard Ullmann
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
European journal of pediatrics 2008;167(8):903-8.
2008: Andreas Tzschach; Sigrid Tinschert; Elke Kaminsky; Eugen Lusga; Stefan Mundlos; Luitgard M Graul-Neumann
Czech dysplasia: report of a large family and further delineation of the phenotype.
American journal of medical genetics. Part A 2008;146A(14):1859-64.
2008: Eva Klopocki; C-E Ott; N Benatar; Reinhard Ullmann; Stefan Mundlos; Katarina Lehmann
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.
Journal of medical genetics 2008;45(6):370-5.
2008: Nicholas Humphrey; Stefan Mundlos; Seval Türkmen
Genes and quadrupedal locomotion in humans.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(21):E26.
2008: Regina Raz; Sigmar Stricker; Elizabetta Gazzerro; Julie L Clor; Florian Witte; Harikiran Nistala; Stefanie Zabski; Renata C Pereira; Lisa Stadmeyer; Xiangmin Wang; Lori Gowen; Mark W Sleeman; George D Yancopoulos; Ernesto Canalis; Stefan Mundlos; David M Valenzuela; Aris N Economides
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
Development (Cambridge, England) 2008;135(9):1713-23.
2008: Frank Plöger; Petra Seemann; Mareen Schmidt-von Kegler; Katarina Lehmann; Jörg Seidel; Klaus W Kjaer; Jens Pohl; Stefan Mundlos
Brachydactyly type A2 associated with a defect in proGDF5 processing.
Human molecular genetics 2008;17(9):1222-33.
2008: Anna Rajab; U Kornak; B S Budde; K Hoffmann; J Jaeken; P Nürnberg; Stefan Mundlos
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
American journal of medical genetics. Part A 2008;146A(8):965-76.
2008: Jochen Hecht; Sigmar Stricker; Ulrike Wiecha; Asita Stiege; Georgia Panopoulou; Lars Podsiadlowski; Albert J Poustka; Christoph Dieterich; Siegfried Ehrich; Julia Suvorova; Stefan Mundlos; Volkhard Seitz
Evolution of a core gene network for skeletogenesis in chordates.
PLoS genetics 2008;4(3):e1000025.
2008: Anne Michalk; Sigmar Stricker; Jutta Becker; Rosemarie Rupps; Tapio Pantzar; Jan Miertus; Giovanni Botta; Valeria G Naretto; Catrin Janetzki; Nausheen Yaqoob; Claus-Eric Ott; Dominik Seelow; Dagmar Wieczorek; Britta Fiebig; Brunhilde Wirth; Markus Hoopmann; Marisa Walther; Friederike Körber; Markus Blankenburg; Stefan Mundlos; Raoul Heller; Katrin Hoffmann
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
American journal of human genetics 2008;82(2):464-76.
2008: Andreas Ratzka; Ina Kalus; Markus Moser; Thomas Dierks; Stefan Mundlos; Andrea Vortkamp
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development.
Developmental dynamics : an official publication of the American Association of Anatomists 2008;237(2):339-53.
2008: Georg C Schwabe; Katrin Hoffmann; Niki Tomas Loges; Daniel Birker; Colette Rossier; Margherita M de Santi; Heike Olbrich; Manfred Fliegauf; Mike Failly; Uta Liebers; Mirella Collura; Gerhard Gaedicke; Stefan Mundlos; Ulrich Wahn; Jean-Louis Blouin; Bodo Niggemann; Heymut Omran; Stylianos E Antonarakis; Lucia Bartoloni
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Human mutation 2008;29(2):289-98.
2008: P Seemann; Stefan Mundlos
The tale of FOP, NOGGIN and myristoylation: no data, no proof!
Genetic counseling (Geneva, Switzerland) 2008;19(3):353-5; author reply 361-3.
2008: Mateusz Kolanczyk; Jirko Kühnisch; Nadine Kossler; Monika Osswald; Sabine Stumpp; Boris Thurisch; Uwe Kornak; Stefan Mundlos
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
BMC medicine 2008;6():21.
2008: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk J Lefeber; Zsolt Urban; Stephanie Gruenewald; Willem ANNAERT; Han G Brunner; Hans van Bokhoven; Ron A Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics 2008;40(1):32-4.
2007: Benjamin Abo-Dalo; Hyung-Goo Kim; Melanie Roes; Margarita Stefanova; Anne Higgins; Yiping Shen; Stefan Mundlos; Bradley J Quade; James Gusella; Kerstin Kutsche
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
American journal of medical genetics. Part A 2007;143A(22):2668-74.
2007: Volkhard Seitz; Asita C Stiege; Stefan Mundlos; Dido Lenze; Hetty Lammert; Anja Clermont; B Hirsch; E Von Der Wall; H Müller; A Kirsch; F Diaz-Espada; L Uharek; Ioannis Anagnostopoulos; Harald Stein; Michael Hummel
Immunoglobulin receptor evolution in follicular lymphoma and a review of literature.
Leukemia & lymphoma 2007;48(10):2063-7.
2007: Sabine Uhrig; Dietmar Schlembach; Julie Waldispuehl-Geigl; Werner Schaffer; Jochen Geigl; Eva Klopocki; Stefan Mundlos; Michael R Speicher
Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1.
American journal of human genetics 2007;81(4):866-8.
2007: Martin Zenker; Denise Horn; Dagmar Wieczorek; Judith E Allanson; Silke Pauli; Ineke van der Burgt; Helmuth-Guenther Doerr; Harald Gaspar; Michael Hofbeck; Gabriele Gillessen-Kaesbach; Andreas Koch; Peter Meinecke; Stefan Mundlos; Anja Nowka; Anita Rauch; Silke Reif; Christian von Schnakenburg; Heide Seidel; Lars-Erik Wehner; Christiane Zweier; Susanne Bauhuber; Verena Matejas; Christian P Kratz; Christoph Thomas; Kerstin Kutsche
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Journal of medical genetics 2007;44(10):651-6.
2007: Katarina Lehmann; Petra Seemann; F Silan; T O Goecke; S Irgang; K W Kjaer; S Kjaergaard; M J Mahoney; Susanne Morlot; Carsten Reissner; B Kerr; A O M Wilkie; Stefan Mundlos
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
American journal of human genetics 2007;81(2):388-96.
2007: Mateusz Kolanczyk; Nadine Kossler; Jirko Kühnisch; Liron Lavitas; Sigmar Stricker; Ulrich Wilkening; Inderchand Manjubala; Peter Fratzl; Ralf Spörle; Bernhard G Herrmann; Luis F Parada; Uwe Kornak; Stefan Mundlos
Multiple roles for neurofibromin in skeletal development and growth.
Human molecular genetics 2007;16(8):874-86.
2007: Britta Trepczik; Jasmin Lienau; Hanna Schell; Epari Devakar; Mark S Thompson; Jan-Erik Hoffmann; Anke Kadow-Romacker; Stefan Mundlos; Georg N Duda
Endochondral ossification in vitro is influenced by mechanical bending.
Bone 2007;40(3):597-603.
2007: Eva Klopocki; Harald Schulze; Gabriele Strauss; Claus-Eric Ott; Judith Hall; Fabienne Trotier; Silke Fleischhauer; Lynn Greenhalgh; Ruth Newbury-Ecob; Luitgard M Neumann; Rolf Habenicht; Rainer König; Eva Seemanova; André Megarbane; Hans-Hilger Ropers; Reinhard Ullmann; Denise Horn; Stefan Mundlos
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
American journal of human genetics 2007;80(2):232-40.
2007: Martin Zenker; Katarina Lehmann; Anna Leana Schulz; Helmut Barth; Dagmar Hansmann; Rainer Koenig; Rudolf Korinthenberg; Martina Kreiss-Nachtsheim; Peter Meinecke; Susanne Morlot; Stefan Mundlos; Anne S Quante; Salmo Raskin; Dirk Schnabel; Lars-Erik Wehner; Christian P Kratz; Denise Horn; Kerstin Kutsche
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Journal of medical genetics 2007;44(2):131-5.
2007: Marco Castori; Francesco Brancati; Rita Mingarelli; Stefan Mundlos; Bruno Dallapiccola
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
American journal of medical genetics. Part A 2007;143(2):195-9.
2007: Jochen Hecht; Volkhard Seitz; M Urban; F Wagner; Peter Robinson; Asita C Stiege; Christoph Dieterich; Uwe Kornak; U Wilkening; Norbert Brieske; C Zwingman; A Kidess; Sigmar Stricker; Stefan Mundlos
Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.
Gene expression patterns : GEP 2007;7(1-2):102-12.
2006: Sigmar Stricker; Nicole Verhey van Wijk; Florian Witte; Norbert Brieske; Kathrin Seidel; Stefan Mundlos
Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 2006;235(12):3456-65.
2006: Katarina Lehmann; Petra Seemann; Jan Boergermann; Gilles Morin; Silke Reif; Petra Knaus; Stefan Mundlos
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
European journal of human genetics : EJHG 2006;14(12):1248-54.
2006: Eva Klopocki; Luitgard M Neumann; Holger Tönnies; Hans-Hilger Ropers; Stefan Mundlos; Reinhard Ullmann
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
European journal of human genetics : EJHG 2006;14(12):1274-9.
2006: Tomasz Zemojtel; Andreas Fröhlich; M Cristina Palmieri; Mateusz Kolanczyk; Ivan Mikula; Lucjan S Wyrwicz; Erich E Wanker; Stefan Mundlos; Martin Vingron; Pavel Martasek; Jörg Durner
Plant nitric oxide synthase: a never-ending story?
Trends in plant science 2006;11(11):524-5; author reply 526-8.
2006: D Müller; Eva Klopocki; Luitgard M Neumann; Stefan Mundlos; M Taupitz; Ilka Schulze; Hans-Hilger Ropers; Uwe Querfeld; Reinhard Ullmann
A complex phenotype with cystic renal disease.
Kidney international 2006;70(9):1656-60.
2006: Gao Guo; Patrick Booms; Marc K Halushka; Harry C Dietz; Andreas Ney; Sigmar Stricker; Jochen Hecht; Stefan Mundlos; Peter Robinson
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment.
Circulation 2006;114(17):1855-62.
2006: Burkhard Alt; Osama A Elsalini; Pamela Schrumpf; Nele Haufs; Nathan D Lawson; Georg C Schwabe; Stefan Mundlos; Annette Grüters; Heiko Krude; Klaus B Rohr
Arteries define the position of the thyroid gland during its developmental relocalisation.
Development (Cambridge, England) 2006;133(19):3797-804.
2006: Sigmar Stricker; Norbert Brieske; Julia Haupt; Stefan Mundlos
Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development.
Gene expression patterns : GEP 2006;6(8):826-34.
2006: C Geoffrey Woods; Sigmar Stricker; Petra Seemann; Rowena Stern; James Cox; E Sherridan; Emma Roberts; Kelly Springell; Sheila Scott; Gulshan Karbani; S M Sharif; Carmel Toomes; Jacquelyn Bond; D Kumar; Lihadh Al-Gazali; Stefan Mundlos
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
American journal of human genetics 2006;79(2):402-8.
2006: Katrin Hoffmann; Juliane S Muller; Sigmar Stricker; André Megarbane; Anna Rajab; Tom H Lindner; Monika Cohen; Eliane Chouery; Lynn Adaimy; Ismat Ghanem; Valérie Delague; Eugen Boltshauser; Beril Talim; Rita Horvath; Peter Robinson; Hanns Lochmüller; Christoph Hübner; Stefan Mundlos
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.
American journal of human genetics 2006;79(2):303-12.
2006: Manuel Koch; Guido Veit; Sigmar Stricker; Pinaki Bhatt; Stefanie Kutsch; Peihong Zhou; Elina Reinders; Rita A Hahn; Rich Song; Robert E Burgeson; Donald R Gerecke; Stefan Mundlos; Marion K Gordon
Expression of type XXIII collagen mRNA and protein.
The Journal of biological chemistry 2006;281(30):21546-57.
2006: Seval Türkmen; Osman Demirhan; K Hoffmann; A Diers; C Zimmer; K Sperling; Stefan Mundlos
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
Journal of medical genetics 2006;43(5):461-4.
2006: Eva Klopocki; Britta Fiebig; Peter Robinson; Holger Tönnies; Fikret Erdogan; Hans-Hilger Ropers; Stefan Mundlos; Reinhard Ullmann
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
American journal of medical genetics. Part A 2006;140(8):873-7.
2006: Katherine Dawson; Petra Seeman; Eiman Sebald; Lily King; Matthew Edwards; John Williams; Stefan Mundlos; Deborah Krakow
GDF5 is a second locus for multiple-synostosis syndrome.
American journal of human genetics 2006;78(4):708-12.
2006: Klaus Wilbrandt Kjaer; Hans Eiberg; Lars Hansen; C B van der Hagen; K Rosendahl; Niels Tommerup; Stefan Mundlos
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
Journal of medical genetics 2006;43(3):225-31.
2006: Patrick Booms; Andreas Ney; Frank Barthel; Gautier Moroy; Damian Counsell; Christoph Gille; Gao Guo; Reinhard Pregla; Stefan Mundlos; Alain J.P. Alix; Peter Robinson
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.
Journal of molecular and cellular cardiology 2006;40(2):234-46.
2006: B Dlugaszewska; Asli N Silahtaroglu; Corinna Menzel; Sabine Kübart; M Cohen; Stefan Mundlos; Zeynep Tümer; K Kjaer; U Friedrich; Hans-Hilger Ropers; Niels Tommerup; H Neitzel; Vera Kalscheuer
Breakpoints around the HOXD cluster result in various limb malformations.
Journal of medical genetics 2006;43(2):111-8.
2006: Tomasz Zemojtel; Mateusz Kolanczyk; Nadine Kossler; Sigmar Stricker; Rudi Lurz; Ivan Mikula; Marlena Duchniewicz; Markus Schuelke; Pedram Ghafourifar; Pavel Martasek; Martin Vingron; Stefan Mundlos
Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate.
FEBS letters 2006;580(2):455-62.
2006: Jochen Hecht; Heiner Kuhl; Stefan A Haas; Sebastian Bauer; Annemarie Poustka; Jasmin Lienau; Hanna Schell; Asita C Stiege; Volkhard Seitz; Richard Reinhardt; Georg N Duda; Stefan Mundlos; Peter Robinson
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.
BMC genomics 2006;7():172.
2005: Petra Seemann; Raphaela Schwappacher; Klaus W Kjaer; Deborah Krakow; Katarina Lehmann; Katherine Dawson; Sigmar Stricker; Jens Pohl; Frank Plöger; Eike Staub; Joachim Nickel; Walter Sebald; Petra Knaus; Stefan Mundlos
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
The Journal of clinical investigation 2005;115(9):2373-81.
2005: Andrea Pietschmann; Parvin Mehdipour; Parvin Mehdipour; Morteza Atri; Wera Hofmann; Saied Hosseini-Asl; Siegfried Scherneck; Stefan Mundlos; Hartmut Peters
Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.
Journal of cancer research and clinical oncology 2005;131(8):552-8.
2005: Katarina Lehmann; Stefan Mundlos; Peter Meinecke
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
European journal of pediatrics 2005;164(8):530-1.
2005: Fatih Tufan; Kivanc Cefle; Seval Türkmen; Aydin Türkmen; Unal Zorba; Memduh Dursun; Sükrü Oztürk; Sükrü Palandüz; Tevfik Ecder; Stefan Mundlos; Denise Horn
Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
American journal of medical genetics. Part A 2005;136(2):185-9.
2005: Andrea Albrecht; Stefan Mundlos
The other trinucleotide repeat: polyalanine expansion disorders.
Current opinion in genetics & development 2005;15(3):285-93.
2005: Robert C Gensure; Outi Mäkitie; Catherine Barclay; Catherine Chan; Steven R Depalma; Murat Bastepe; Hilal Abuzahra; Richard Couper; Stefan Mundlos; David Sillence; Leena Ala Kokko; Jonathan G Seidman; William G Cole; Harald Jüppner
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.
The Journal of clinical investigation 2005;115(5):1250-7.
2005: Anna Rajab; K Hoffmann; Anuradha Ganesh; A U Sethu; Stefan Mundlos
Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman.
American journal of medical genetics. Part A 2005;134A(2):151-7.
2005: Michael Niedermaier; Georg C Schwabe; Stephan Fees; Anne Helmrich; Norbert Brieske; Petra Seemann; Jochen Hecht; Volkhard Seitz; Sigmar Stricker; Gundula Leschik; Evelin Schrock; Paul B Selby; Stefan Mundlos
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.
The Journal of clinical investigation 2005;115(4):900-9.
2005: Osman Demirhan; Seval Türkmen; Georg C Schwabe; Süreyya Soyupak; Erol Akgül; Deniz Tastemir; D Karahan; Stefan Mundlos; K Lehmann
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
Journal of medical genetics 2005;42(4):314-7.
2005: Klaus Wilbrandt Kjaer; Lars Hansen; Georg C Schwabe; A P Marques-de-Faria; Hans Eiberg; Stefan Mundlos; Niels Tommerup; Thomas Rosenberg
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).
Journal of medical genetics 2005;42(4):292-8.
2005: Wolfram Heinritz; A Moschik; Annegret Kujat; Stephanie Spranger; H Heilbronner; S Demuth; A Bier; M Tihanyi; Stefan Mundlos; Claudia Gruenauer-Kloevekorn; Ursula G Froster
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heart (British Cardiac Society) 2005;91(3):383-4.
2005: Irene A Aligianis; Colin A Johnson; Paul Gissen; Dongrong Chen; Daniel Hampshire; Katrin Hoffmann; Esther N Maina; Neil V Morgan; Louise Tee; Jenny Morton; John R Ainsworth; Denise Horn; Elisabeth Rosser; Trevor R P Cole; Irene Stolte-Dijkstra; Karen Fieggen; Jill Clayton-Smith; André Mégarbané; Julian P Shield; Ruth Newbury-Ecob; William B Dobyns; John M Graham; Klaus W Kjaer; Mette Warburg; Jacqueline Bond; Richard C Trembath; Laura W Harris; Yoshimi Takai; Stefan Mundlos; David Tannahill; C Geoffery Woods; Eamonn R Maher
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Nature genetics 2005;37(3):221-3.
2005: Patrick Booms; Reinhard Pregla; Andreas Ney; Frank Barthel; Ehab Ismail El=-Hallous; Angelika Pletschacher; Stefan Mundlos; Peter Robinson
RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome.
Human genetics 2005;116(1-2):51-61.
2004: Marei Sammar; Sigmar Stricker; Georg C Schwabe; Christina Sieber; Anke Hartung; Michael Hanke; Isao Oishi; Jens Pohl; Yasuhiro Minami; Walter Sebald; Stefan Mundlos; Petra Knaus
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.
Genes to cells : devoted to molecular & cellular mechanisms 2004;9(12):1227-38.
2004: Jeffrey W Innis; Douglas P Mortlock; Zhi Chen; Michael Ludwig; Melissa E Williams; Thomas M Williams; Colleen D Doyle; Zhihong Shao; Michael W Glynn; Davor Mikulic; Katarina Lehmann; Stefan Mundlos; Boris Utsch
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model.
Human molecular genetics 2004;13(22):2841-51.
2004: Andrea N Albrecht; Uwe Kornak; Annett Böddrich; Kathrin Süring; Peter Robinson; Asita C Stiege; Rudi Lurz; Sigmar Stricker; Erich E Wanker; Stefan Mundlos
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Human molecular genetics 2004;13(20):2351-9.
2004: Peter Robinson; Ulrike Böhme; Rodrigo Lopez; Stefan Mundlos; Peter Nürnberg
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Human molecular genetics 2004;13(17):1969-78.
2004: Holger Thiele; Masahiro Sakano; Hiroshi Kitagawa; Kazuyuki Sugahara; Anna Rajab; Wolfgang Ernst Hoehne; Heide Ritter; Gundula Leschik; Peter Nürnberg; Stefan Mundlos
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(27):10155-60.
2004: Cynthia F Bartels; Hulya Bükülmez; Pius S Padayatti; David K Rhee; Conny van Ravenswaaij-Arts; Richard M Pauli; Stefan Mundlos; David Chitayat; Ling-Yu Shih; Lihadh Al-Gazali; Sarina G Kant; Trevor Cole; Jenny Morton; Valérie Cormier-Daire; Laurence Faivre; Melissa Lees; Jeremy Kirk; Geert R Mortier; Jules Leroy; Bernhard Zabel; Chong A Kim; Yanick Crow; Nancy E Braverman; Focco Van Den Akker; Matthew L Warman
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
American journal of human genetics 2004;75(1):27-34.
2004: Anna Rajab; Jürgen Kunze; Stefan Mundlos
Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.
American journal of medical genetics. Part A 2004;126A(4):413-9.
2004: Georg C Schwabe; Stefan Mundlos
Genetics of congenital hand anomalies.
Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft für Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft für Mikrochirurgie der Peripheren Nerven und Gefässe : Organ der Vereinigung der Deutschen Plastischen Chirurgen 2004;36(2-3):85-97.
2004: Ulrike A Nuber; Sigrid Tinschert; Stefan Mundlos; Ingrid Hauber
Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.
American journal of medical genetics. Part A 2004;125A(3):261-6.
2004: H Thiele; C McCann; S van't Padje; Georg C Schwabe; H C Hennies; G Camera; J Opitz; R Laxova; Stefan Mundlos; P Nürnberg
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Journal of medical genetics 2004;41(3):213-8.
2004: Georg C Schwabe; Britta Trepczik; Kathrin Süring; Norbert Brieske; Abigail S Tucker; Paul T Sharpe; Yasuhiro Minami; Stefan Mundlos
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 2004;229(2):400-10.
2004: Georg C Schwabe; Seval Türkmen; Gundula Leschik; Sukru Palanduz; Brigitte Stöver; Timm Goecke; Stefan Mundlos
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
American journal of medical genetics. Part A 2004;124A(4):356-63.
2003: Seval Türkmen; Gabriele Gillessen-Kaesbach; Peter Meinecke; Beate Albrecht; Luitgard M Neumann; Volker Hesse; Sukru Palanduz; Stefanie Balg; Frank Majewski; Sigrun Fuchs; Petra Zschieschang; Monika Greiwe; Kirsten Mennicke; Friedmar R Kreuz; Harald J Dehmel; Burkhard Rodeck; Jürgen Kunze; Sigrid Tinschert; Stefan Mundlos; Denise Horn
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
European journal of human genetics : EJHG 2003;11(11):858-65.
2003: Katarina Lehmann; Petra Seemann; Sigmar Stricker; Marei Sammar; Birgit Meyer; Kathrin Süring; Frank Majewski; Sigrid Tinschert; Karl-Heinz Grzeschik; Dietmar Müller; Petra Knaus; Peter Nürnberg; Stefan Mundlos
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(21):12277-82.
2003: Uwe Kornak; Stefan Mundlos
Genetic disorders of the skeleton: a developmental approach.
American journal of human genetics 2003;73(3):447-74.
2003: Sigmar Stricker; Annemarie Poustka; U Wiecha; Asita C Stiege; Jochen Hecht; Georgia Panopoulou; Andreas Vilcinskas; Stefan Mundlos; Volkhard Seitz
A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution.
Developmental and comparative immunology 2003;27(8):673-84.
2003: Susann Schweiger; Rabih Chaoui; Cornelia Tennstedt; Katarina Lehmann; Stefan Mundlos; Sigrid Tinschert
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.
American journal of medical genetics. Part A 2003;120A(4):547-52.
2003: Isao Oishi; Hiroaki Suzuki; Nobuyuki Onishi; Ritsuko Takada; Shuichi Kani; Bisei Ohkawara; Ikue Koshida; Kentaro Suzuki; General Yamada; Georg C Schwabe; Stefan Mundlos; Hiroshi Shibuya; Shinji Takada; Yasuhiro Minami
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.
Genes to cells : devoted to molecular & cellular mechanisms 2003;8(7):645-54.
2003: Michael Stock; Henning Schäfer; Sigmar Stricker; Gerhard Gross; Stefan Mundlos; Florian Otto
Expression of galectin-3 in skeletal tissues is controlled by Runx2.
The Journal of biological chemistry 2003;278(19):17360-7.
2002: Sheila Unger; Etienne Mornet; Stefan Mundlos; Susan Blaser; David E C Cole
Severe cleidocranial dysplasia can mimic hypophosphatasia.
European journal of pediatrics 2002;161(11):623-6.
2002: Eva Morava; Judit Kárteszi; János Weisenbach; Almuth Caliebe; Stefan Mundlos; Károly Méhes
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
European journal of pediatrics 2002;161(11):619-22.
2002: Thomas Sander; Mohammad R Toliat; Armin Heils; Gundula Leschik; Christian Becker; Franz Rüschendorf; Klaus Rohde; Stefan Mundlos; Peter Nürnberg
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.
Epilepsy research 2002;51(3):249-55.
2002: Karim D Kalache; Katarina Lehmann; Rabih Chaoui; Dietmar Kivelitz; Stefan Mundlos; Rainer Bollmann
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.
Prenatal diagnosis 2002;22(5):404-7.
2002: Sigmar Stricker; Reinald Fundele; Andrea Vortkamp; Stefan Mundlos
Role of Runx genes in chondrocyte differentiation.
Developmental biology 2002;245(1):95-108.
2002: Florian Otto; Hirokazu Kanegane; Stefan Mundlos
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Human mutation 2002;19(3):209-16.
2002: Andrea N Albrecht; Georg C Schwabe; Sigmar Stricker; Annett Böddrich; Erich E Wanker; Stefan Mundlos
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
Mechanisms of development 2002;112(1-2):53-67.
2001: George E Tiller; V L Hannig; D Dozier; L Carrel; K C Trevarthen; W R Wilcox; Stefan Mundlos; Jonathan L Haines; Agi K Gedeon; Jozef Gecz
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics 2001;68(6):1398-407.
2001: Peter Nürnberg; H Thiele; D Chandler; Wolfgang Ernst Hoehne; Michael L Cunningham; Heide Ritter; Gundula Leschik; Karen Uhlmann; Claudia Mischung; Karen Harrop; Jack Goldblatt; Z U Borochowitz; Dieter Kotzot; F Westermann; Stefan Mundlos; HS Braun; N Laing; Sigrid Tinschert
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nature genetics 2001;28(1):37-41.
2001: M Krüger; D Mennerich; S Fees; R Schäfer; Stefan Mundlos; Nanette Kälin
Sonic hedgehog is a survival factor for hypaxial muscles during mouse development.
Development (Cambridge, England) 2001;128(5):743-52.
2001: Stefan Mundlos
Defects of human skeletogenesis--models and mechanisms.
Novartis Foundation symposium 2001;232():81-91; discussion 91-101.
2000: S Nacke; R Schäfer; M Habré de Angelis; Stefan Mundlos
Mouse mutant "rib-vertebrae" (rv): a defect in somite polarity.
Developmental dynamics : an official publication of the American Association of Anatomists 2000;219(2):192-200.
2000: Georg C Schwabe; Sigrid Tinschert; C Buschow; Peter Meinecke; G Wolff; Gabriele Gillessen-Kaesbach; Michael Oldridge; Andrew O M Wilkie; R Kömec; Stefan Mundlos
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
American journal of human genetics 2000;67(4):822-31.
2000: Stefan Mundlos
Skeletal morphogenesis.
Methods in molecular biology (Clifton, N.J.) 2000;136():61-70.
1999: Axel Bohring; S O Lewin; James F Reynolds; T Voigtländer; O Rittinger; J C Carey; M Köpernik; R Smith; E H Zackai; N J Leonard; H L Gritter; J S Bamforth; N Okun; D R McLeod; M Super; P Powell; Stefan Mundlos; Raoul Hennekam; Irene van Langen; D H Viskochil; H R Wiedemann; John M Opitz
Polytopic anomalies with agenesis of the lower vertebral column.
American journal of medical genetics 1999;87(2):99-114.
1999: I Quack; Birgitta Vonderstrass; Michael Stock; Arthur S Aylsworth; Achim Becker; Louise A Brueton; P J Lee; Frank Majewski; J B Mulliken; M Suri; Martin Zenker; Stefan Mundlos; Florian Otto
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
American journal of human genetics 1999;65(5):1268-78.
1999: Stefan Mundlos
Cleidocranial dysplasia: clinical and molecular genetics.
Journal of medical genetics 1999;36(3):177-82.
1999: I S Kim; F Otto; B Zabel; Stefan Mundlos
Regulation of chondrocyte differentiation by Cbfa1.
Mechanisms of development 1999;80(2):159-70.
1998: J Yu; J M Madison; Stefan Mundlos; fred winston; Bjorn R Olsen
Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor spt3 (SUPT3H).
Genomics 1998;53(1):90-6.
1998: Sarina G Kant; A Polinkovsky; Stefan Mundlos; B Zabel; Ralph T W M Thomeer; Harmine M Zonderland; L Shih; Arie van Haeringen; Matthew L Warman
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
American journal of human genetics 1998;63(1):155-62.
1997: L F Huang; Naomi Fukai; Paul B Selby; Bjorn R Olsen; Stefan Mundlos
Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice.
Developmental dynamics : an official publication of the American Association of Anatomists 1997;210(1):33-40.
1997: Frances R Goodman; Stefan Mundlos; Y Muragaki; Dian Donnai; Maria Luisa Giovannucci Uzielli; Elisabetta Lapi; Frank Majewski; Julie McGaughran; Carole M E McKeown; William Reardon; J Upton; Robin M Winter; B R Olsen; Peter J Scambler
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(14):7458-63.
1997: Stefan Mundlos; Florian Otto; C Mundlos; J B Mulliken; Arthur S Aylsworth; S Albright; Dick Lindhout; W G Cole; W Henn; J H Knoll; M J Owen; R Mertelsmann; B U Zabel; B R Olsen
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.
Cell 1997;89(5):773-9.
1997: F Otto; A P Thornell; T Crompton; Angela Denzel; K C Gilmour; Ian Rosewell; Gordon Stamp; R S Beddington; Stefan Mundlos; Bjorn R Olsen; Paul B Selby; Michael J Owen
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.
Cell 1997;89(5):765-71.
1997: M Weed; Stefan Mundlos; Bjorn R Olsen
The role of sonic hedgehog in vertebrate development.
Matrix biology : journal of the International Society for Matrix Biology 1997;16(2):53-8.
1997: Stefan Mundlos; Bjorn R Olsen
Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1997;11(4):227-33.
1997: Stefan Mundlos; Bjorn R Olsen
Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1997;11(2):125-32.
1996: Stefan Mundlos; D Chan; Y M Weng; D O Sillence; W G Cole; John F Bateman
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
The Journal of biological chemistry 1996;271(35):21068-74.
1996: Stefan Mundlos; L F Huang; P Selby; Bjorn R Olsen
Cleidocranial dysplasia in mice.
Annals of the New York Academy of Sciences 1996;785():301-2.
1996: Rajkumar Ramesar; Jacquie Greenberg; R Martin; R Goliath; Soraya Bardien; Stefan Mundlos; Peter Beighton
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.
Journal of medical genetics 1996;33(6):511-4.
1996: Stefan Mundlos; D Chan; J McGill; John F Bateman
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
American journal of medical genetics 1996;63(1):129-36.
1996: H Menger; Stefan Mundlos; K Becker; Jürgen Spranger; Bernhard Zabel
An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.
American journal of medical genetics 1996;63(1):80-3.
1996: Y Muragaki; Stefan Mundlos; J Upton; Bjorn R Olsen
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
Science (New York, N.Y.) 1996;272(5261):548-51.
1995: D Chan; W G Cole; C W Chow; Stefan Mundlos; John F Bateman
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
The Journal of biological chemistry 1995;270(4):1747-53.
1995: Stefan Mundlos; J B Mulliken; D L Abramson; Matthew L Warman; JH Knoll; Bjorn R Olsen
Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.
Human molecular genetics 1995;4(1):71-5.
1994: Andreas Winterpacht; U Schwarze; Stefan Mundlos; H Menger; Jürgen Spranger; Bernhard Zabel
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.
Human molecular genetics 1994;3(10):1891-3.
1994: Stefan Mundlos; B Zabel
Developmental expression of human cartilage matrix protein.
Developmental dynamics : an official publication of the American Association of Anatomists 1994;199(3):241-52.
1994: Stefan Mundlos
Expression patterns of matrix genes during human skeletal development.
Progress in histochemistry and cytochemistry 1994;28(3):1-47.
1994: Andreas Winterpacht; M Hilbert; U Schwarze; Stefan Mundlos; Jürgen Spranger; Bernhard Zabel
Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation.
Human mutation 1994;4(4):257-62.
1994: H W Lehmann; Stefan Mundlos; Andreas Winterpacht; R E Brenner; B Zabel; PK Müller
Ehlers-Danlos syndrome type VII: phenotype and genotype.
Archives of dermatological research 1994;286(8):425-8.
1994: Jürgen Spranger; H Menger; Stefan Mundlos; Andreas Winterpacht; Bernhard Zabel
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
Pediatric radiology 1994;24(6):431-5.
1993: Stefan Mundlos; J Pelletier; A Darveau; M Bachmann; Andreas Winterpacht; B Zabel
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues.
Development (Cambridge, England) 1993;119(4):1329-41.
1993: Andreas Winterpacht; M Hilbert; U Schwarze; Stefan Mundlos; Jürgen Spranger; Bernhard Zabel
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect.
Nature genetics 1993;3(4):323-6.
1993: Guido Adler; Stefan Mundlos; P Kühnelt; E Dreyer
New methods for assessment of enzyme activity: do they help to optimize enzyme treatment?
Digestion 1993;54 Suppl 2():3-9.
1992: Andrej Poleev; H Fickenscher; Stefan Mundlos; Andreas Winterpacht; B Zabel; A Fidler; P Gruss; D Plachov
PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.
Development (Cambridge, England) 1992;116(3):611-23.
1992: Stefan Wirth; A Hueter; I Blaha; Stefan Mundlos; Klaus-Michael Keller; B Zabel
Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markers.
Journal of pediatric gastroenterology and nutrition 1992;14(2):128-34.
1992: Stefan Mundlos; B Schwahn; Torsten E Reichert; B Zabel
Distribution of osteonectin mRNA and protein during human embryonic and fetal development.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1992;40(2):283-91.
1991: Ernest M Wright; Eric Turk; B Zabel; Stefan Mundlos; J Dyer
Molecular genetics of intestinal glucose transport.
The Journal of clinical investigation 1991;88(5):1435-40.
1991: Stefan Mundlos; R Meyer; Y Yamada; Bernhard Zabel
Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development.
Matrix (Stuttgart, Germany) 1991;11(5):339-46.
1991: Stefan Mundlos; Jürgen Spranger
Genetic disorders of connective tissues.
Current opinion in rheumatology 1991;3(5):832-7.
1991: P Kühnelt; Stefan Mundlos; Guido Adler
[Effect of pellet size of a pancreas enzyme preparation on duodenal lipolytic activity].
Zeitschrift für Gastroenterologie 1991;29(9):417-21.
1991: Eric Turk; B Zabel; Stefan Mundlos; J Dyer; Ernest M Wright
Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.
Nature 1991;350(6316):354-6.
1991: H Schmidt; Stefan Mundlos; Jürgen Spranger
Sibs with a disorder resembling Blount disease (tibia vara).
Pediatric radiology 1991;21(4):316-8.
1990: Stefan Mundlos; P Kühnelt; Guido Adler
Monitoring enzyme replacement treatment in exocrine pancreatic insufficiency using the cholesteryl octanoate breath test.
Gut 1990;31(11):1324-8.
1990: Stefan Mundlos; I R Mackay; I H Frazer; M Rowley
A neonatally tolerant mouse model to assess pathogenicity of human autoantibodies.
Journal of immunological methods 1990;127(2):279-84.
1990: Stefan Mundlos; H Engel; Ina Michel-Behnke; Bernhard Zabel
Distribution of type I and type II collagen gene expression during the development of human long bones.
Bone 1990;11(4):275-9.
1987: Stefan Mundlos; J B Rhodes; Alan F Hofmann
The cholesteryl octanoate breath test: a new procedure for detection of pancreatic insufficiency in the rat.
Pediatric research 1987;22(3):257-61.
1987: W U Dormann; Stefan Mundlos; R Haschke
Comparison of principal components computed with principal factor analysis on the basis of averaged and single-trial ERPs using the Fischer-Roppert procedure.
International journal of psychophysiology : official journal of the International Organization of Psychophysiology 1987;4(4):319-23.
1986: Stefan Mundlos; G Adler; M Schaar; I Koop; R Arnold
Exocrine pancreatic function in oleic acid-induced pancreatic insufficiency in rats.
Pancreas 1986;1(1):29-36.