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Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Journal Article
Development (Cambridge), ISSN 0950-1991, 05/2017, Volume 144, Issue 10, pp. 1743 - 1763
Journal Article
Nature, ISSN 0028-0836, 02/2018, Volume 554, Issue 7691, pp. 239 - 243
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2009, Volume 106, Issue 21, pp. 8573 - 8578
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2011, Volume 20, Issue 19, pp. 3725 - 3737
The primary cilium is emerging as a crucial regulator of signaling pathways central to vertebrate development and human disease. We identified atrioventricular... 
PATTERNING GENES | SONIC HEDGEHOG | PATHWAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | GENETICS & HEREDITY | RECESSIVE INHERITANCE | MICE | IDENTIFICATION | ASSOCIATION | PRIMARY CILIUM | GLI2 | Limb Deformities, Congenital - genetics | Heart Defects, Congenital - embryology | Kidney - embryology | Humans | Spine - metabolism | Hedgehog Proteins - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Limb Deformities, Congenital - embryology | Trachea - metabolism | Hydrocephalus - metabolism | Anal Canal - metabolism | Spine - abnormalities | Heart Defects, Congenital - genetics | Kidney - metabolism | Hedgehog Proteins - genetics | Tumor Suppressor Proteins - genetics | Spine - embryology | Hydrocephalus - genetics | Intracellular Signaling Peptides and Proteins - genetics | Disease Models, Animal | Trachea - abnormalities | Mice - genetics | Tumor Suppressor Proteins - metabolism | Mice, Inbred C57BL | Esophagus - metabolism | Limb Deformities, Congenital - metabolism | Signal Transduction - genetics | Esophagus - abnormalities | Trachea - embryology | Cilia - metabolism | Mice, Inbred C3H | Cilia - genetics | Protein Transport | Anal Canal - abnormalities | Anal Canal - embryology | Hydrocephalus - embryology | Animals | Kidney - abnormalities | Mutagenesis | Mice - metabolism | Alleles | Esophagus - embryology | Heart Defects, Congenital - metabolism | Mutation | Signal transduction | Animal models | Axonemes | Hydrocephalus | Hedgehog protein | Canals | Embryo fibroblasts | Protein transport | Embryos | Cilia
Journal Article
Development, ISSN 0950-1991, 04/2008, Volume 135, Issue 7, pp. 1377 - 1388
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 01/2011, Volume 20, Issue 2, pp. 271 - 285
Brachydactyly type B (BDB1) and Robinow syndrome (RRS) are two skeletal disorders caused by mutations in ROR2, a co-receptor of Wnt5a. Wnt5a/Ror2 can activate... 
PLANAR-CELL-POLARITY | APICAL ECTODERMAL RIDGE | ZEBRAFISH GASTRULATION | WNT/BETA-CATENIN | NEURAL-TUBE DEFECTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CANONICAL WNT PATHWAY | CONVERGENT EXTENSION | BETA-CATENIN | RECEPTOR TYROSINE KINASE | FEEDBACK LOOP | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Maxillofacial Abnormalities - genetics | Bone Morphogenetic Protein 4 - genetics | Bone Morphogenetic Protein 4 - antagonists & inhibitors | Cell Survival - genetics | Limb Deformities, Congenital - embryology | Wnt-5a Protein | Wnt Proteins - metabolism | Spine - abnormalities | Intercellular Signaling Peptides and Proteins - metabolism | Musculoskeletal Development - genetics | Wnt Proteins - genetics | Limb Buds - abnormalities | Spine - embryology | Spine - pathology | Abnormalities, Multiple - genetics | Maxillofacial Abnormalities - embryology | Morphogenesis - genetics | Receptor Tyrosine Kinase-like Orphan Receptors - metabolism | Limb Deformities, Congenital - metabolism | Gene Dosage | Signal Transduction - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Maxillofacial Abnormalities - pathology | Animals | Cell Polarity - physiology | Receptor Tyrosine Kinase-like Orphan Receptors - genetics | Mice | Mutation | Limb Deformities, Congenital - pathology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 574 - 585
Journal Article