Publications of S. Mundlos
All genres
Journal Article (261)
241.
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 242.
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 243.
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 244.
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 245.
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 246.
Journal Article
73 (3), pp. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 247.
Journal Article
27 (8), pp. 673 - 684 (2003)
A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. Developmental and Comparative Immunology 248.
Journal Article
8 (7), pp. 645 - 654 (2003)
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes to Cells 249.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 250.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 251.
Journal Article
120A (4), pp. 547 - 552 (2003)
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review. American Journal of Medical Genetics Part A 252.
Journal Article
161 (11), pp. 619 - 622 (2002)
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics 253.
Journal Article
161 (11), pp. 623 - 626 (2002)
Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics 254.
Journal Article
51 (3), pp. 249 - 255 (2002)
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Research 255.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 256.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 257.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 258.
Journal Article
22 (5), pp. 404 - 407 (2002)
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis 259.
Journal Article
19 (3), pp. 209 - 216 (2002)
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation 260.
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development