Publications of Stefan Mundlos
All genres
Journal Article (266)
221.
Journal Article
79 (2), pp. 303 - 312 (2006)
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit. American Journal of Human Genetics (Chicago, IL) 222.
Journal Article
79 (2), pp. 402 - 408 (2006)
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 (Chicago, IL) 223.
Journal Article
281 (30), pp. 21546 - 21557 (2006)
Expression of Type XXIII Collagen mRNA and Protein. Journal of Biological Chemistry 224.
Journal Article
7, pp. 172 - 192 (2006)
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics 225.
Journal Article
43 (5), pp. 461 - 464 (2006)
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p. Journal of Medical Genetics 226.
Journal Article
78 (4), pp. 708 - 712 (2006)
GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. American Journal of Human Genetics (Chicago, IL) 227.
Journal Article
140A (8), pp. 873 - 877 (2006)
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. American Journal of Medical Genetics Part A 228.
Journal Article
43 (3), pp. 225 - 231 (2006)
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Journal of Medical Genetics (London) 229.
Journal Article
40 (2), pp. 234 - 246 (2006)
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 (London) 230.
Journal Article
43 (2), pp. 111 - 118 (2006)
Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 231.
Journal Article
43 (2), pp. 111 - 118 (2006)
Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 232.
Journal Article
580 (2), pp. 455 - 462 (2006)
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters 233.
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 234.
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 235.
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 236.
Journal Article
13 (20), pp. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 237.
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 238.
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 239.
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 240.
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