Publications of Stefan Mundlos
All genres
Journal Article (276)
Journal Article
43 (2), pp. 111 - 118 (2006)
Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics
Journal Article
580 (2), pp. 455 - 462 (2006)
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters
Journal Article
115 (9), pp. 2373 - 2381 (2005)
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. Journal of Clinical Investigation
Journal Article
9 (12), pp. 1227 - 1238 (2004)
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells
Journal Article
13 (22), pp. 2841 - 2851 (2004)
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics
Journal Article
13 (20), pp. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics
Journal Article
13 (17), pp. 1969 - 1978 (2004)
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics
Journal Article
101 (27), pp. 10155 - 10160 (2004)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences
Journal Article
75 (1), pp. 27 - 34 (2004)
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics
Journal Article
126A (4), pp. 413 - 419 (2004)
Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics
Journal Article
36 (2-3), pp. 85 - 97 (2004)
Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics
Journal Article
229 (2), pp. 400 - 410 (2004)
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics
Journal Article
124A (4), pp. 356 - 363 (2004)
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics
Journal Article
11 (11), pp. 858 - 865 (2003)
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. European Journal of Human Genetics
Journal Article
100 (21), pp. 12277 - 12282 (2003)
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America