Publications of Stefan Mundlos
All genres
Journal Article (266)
161.
Journal Article
5 (11), p. e1000747 - e1000747 (2009)
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genetics 162.
Journal Article
High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics, ejhg.2009.196, pp. 1 - 6 (2009)
163.
Journal Article
18 (21), pp. 4013 - 4021 (2009)
A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics 164.
Journal Article
149A (10), pp. 2327 - 2338 (2009)
Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics Part A 165.
Journal Article
85 (4), pp. 457 - 464 (2009)
Clinical Diagnostics with Semantic Similarity Searches in Ontologies. The American Journal of Human Genetics 166.
Journal Article
41, pp. 1016 - 1021 (2009)
Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 167.
Journal Article
41 (8), pp. 862 - 863 (2009)
Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 168.
Journal Article
24 (7), pp. 1247 - 1262 (2009)
Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts. Journal of Bone and Mineral Research 169.
Journal Article
18 (12), pp. 2149 - 2165 (2009)
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 170.
Journal Article
5, p. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 171.
Journal Article
458 (7242), pp. 1196 - 1200 (2009)
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature 172.
Journal Article
9 (4), pp. 215 - 223 (2009)
Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns 173.
Journal Article
119 (1), pp. 146 - 156 (2009)
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. Journal of Clinical Investigation 174.
Journal Article
75 (6), pp. 725 - 727 (2008)
Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 175.
Journal Article
83 (5), pp. 610 - 615 (2008)
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics 176.
Journal Article
146A (21), pp. 2804 - 2809 (2008)
Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics Part A 177.
Journal Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology, pp. 1602 - 1608 (2008)
178.
Journal Article
20 (11), pp. 2134 - 2144 (2008)
Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. Cellular Signalling 179.
Journal Article
167 (8), pp. 903 - 908 (2008)
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 180.
Journal Article
31 (6), p. 21 - 21 (2008)
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine