Journal Article (452)
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
Journal Article
94 (7), pp. 2658 - 2664 (2009)
Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism
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
Journal Article
15, pp. 674 - 681 (2009)
Impaired gastric acidification negatively affects calcium homeostasis and bone mass. Nature Medicine
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
Journal Article
45 (5-6), pp. 252 - 263 (2009)
PBX1 is dispensable for neural commitment of RA-treated murine ES cells. In Vitro Cellular & Developmental Biology - Animal
Journal Article
50 (5), pp. 816 - 828 (2009)
The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1. Leukemia & Lymphoma
Journal Article
458 (7242), pp. 1196 - 1200 (2009)
A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature
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
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
Journal Article
75 (6), pp. 725 - 727 (2008)
Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine
Journal Article
3, p. 14 - 14 (2008)
Syntenator: Multiple gene order alignments with a gene-specific scoring function. Algorythms for Molecular Biology
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
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
Journal Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology, pp. 1602 - 1608 (2008)
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
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
Journal Article
31 (6), p. 21 - 21 (2008)
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine
Journal Article
217 (2), pp. 511 - 517 (2008)
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. Journal of Cellular Physiology
Journal Article
146A (16), pp. 2116 - 2121 (2008)
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A