Genetic Disorders of the Skeleton: A Developmental Approach

Por Kornak, Uwe, Mundlos, Stefan
Publicado em 2003

Genes and quadrupedal locomotion in humans

Por Humphrey, Nicholas, Mundlos, Stefan, Türkmen, Seval
Publicado em 2008

Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region

Por Witte, Florian, Chan, Danny, Economides, Aris N., Mundlos, Stefan, Stricker, Sigmar
Publicado em 2010

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

Por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado no Hum Mutat (2015)

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Por Robinson, Peter N., Köhler, Sebastian, Bauer, Sebastian, Seelow, Dominik, Horn, Denise, Mundlos, Stefan
Publicado em 2008

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

Por Villavicencio-Lorini, Pablo, Klopocki, Eva, Trimborn, Marc, Koll, Randi, Mundlos, Stefan, Horn, Denise
Publicado em 2013

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice

Por Bortel, Emely L., Duda, Georg N., Mundlos, Stefan, Willie, Bettina M., Fratzl, Peter, Zaslansky, Paul
Publicado no Data Brief (2015)

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

Por Penzkofer, Tobias, Jäger, Marten, Figlerowicz, Marek, Badge, Richard, Mundlos, Stefan, Robinson, Peter N., Zemojtel, Tomasz
Publicado no Nucleic Acids Res (2017)

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

Por Osswald Monika, Kossler Nadine, Kühnisch Jirko, Kolanczyk Mateusz, Stumpp Sabine, Thurisch Boris, Kornak Uwe, Mundlos Stefan
Publicado em 2008-07-01

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

Por Kolanczyk, Mateusz, Kühnisch, Jirko, Kossler, Nadine, Osswald, Monika, Stumpp, Sabine, Thurisch, Boris, Kornak, Uwe, Mundlos, Stefan
Publicado em 2008

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Por Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Publicado em 2010

Impact of Array Comparative Genomic Hybridization–Derived Information on Genetic Counseling Demonstrated by Prenatal Diagnosis of the TAR (Thrombocytopenia-Absent-Radius) Syndrome–...

Por Uhrig, Sabine , Schlembach, Dietmar , Waldispuehl-Geigl, Julie , Schaffer, Werner , Geigl, Jochen , Klopocki, Eva , Mundlos, Stefan , Speicher, Michael R. 
Publicado em 2007

Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis

Por Kuss, Pia, Villavicencio-Lorini, Pablo, Witte, Florian, Klose, Joachim, Albrecht, Andrea N., Seemann, Petra, Hecht, Jochen, Mundlos, Stefan
Publicado em 2008

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Por Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.
Publicado em 2013

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Por Flöttmann, Ricarda, Sowinska-Seidler, Anna, Lavie, Julie, Chateil, Jean-François, Lacombe, Didier, Mundlos, Stefan, Horn, Denise, Spielmann, Malte
Publicado no Eur J Hum Genet (2016)

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

Por Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Publicado em 2007

Homeobox genes d11–d13 and a13 control mouse autopod cortical bone and joint formation

Por Villavicencio-Lorini, Pablo, Kuss, Pia, Friedrich, Julia, Haupt, Julia, Farooq, Muhammed, Türkmen, Seval, Duboule, Denis, Hecht, Jochen, Mundlos, Stefan
Publicado em 2010

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Por Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan
Publicado em 2004

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

Por Murakami, Yoshiko, Kanzawa, Noriyuki, Saito, Kazunobu, Krawitz, Peter M., Mundlos, Stefan, Robinson, Peter N., Karadimitris, Anastasios, Maeda, Yusuke, Kinoshita, Taroh
Publicado em 2012

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

Por Mundlos Stefan, Schell Hanna, Hecht Jochen, Grünhagen Johannes, Ott Claus-Eric, Jäger Marten, Duda Georg N, Robinson Peter N, Lienau Jasmin
Publicado em 2011-03-01