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Journal of Veterinary Internal Medicine, ISSN 0891-6640, 09/2015, Volume 29, Issue 5, pp. 1418 - 1421
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 282 - 289
Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome... 
STEM-CELLS | COACTIVATOR | PROTEIN | ANOMALIES | GENETICS & HEREDITY | PHENOTYPE | TUMOR | LMX1B | IDENTIFICATION | ABSENT PATELLAE | FEMALE | Blepharoptosis - genetics | Blepharophimosis - enzymology | Humans | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Male | Bone Diseases, Developmental - genetics | Cerebellum - abnormalities | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Rubinstein-Taybi Syndrome - genetics | Epigenomics - methods | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Intellectual Disability - enzymology | Female | Rubinstein-Taybi Syndrome - enzymology | Musculoskeletal Abnormalities - enzymology | Abnormalities, Multiple - genetics | Mice, Inbred C57BL | Phenotype | Animals | Bone Diseases, Developmental - enzymology | Musculoskeletal Abnormalities - genetics | Abnormalities, Multiple - enzymology | Heterozygote | Mice | Mutation | Sequence Analysis, DNA - methods | Urogenital Abnormalities - genetics | Brain | Dysplasia | Usage | Genetic disorders | Gene mutations | Exome sequencing | Physiological aspects | Causes of | Genetic aspects | Research | Histones | Analysis | Genomics | Medical genetics | Proteins | Rodents | Epigenetics | Genetic research | Gene expression | Cells | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2015, Volume 96, Issue 2, pp. 266 - 274
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 254 - 261
Journal Article
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
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
Development, ISSN 0950-1991, 05/2011, Volume 138, Issue 9, pp. 1827 - 1838
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2012, Volume 8, Issue 10, p. e1002999
Holoprosencephaly (HPE) is a remarkably common congenital anomaly characterized by failure to define the midline of the forebrain and midface. HPE is... 
RISK-FACTORS | EMBRYONIC-DEVELOPMENT | VENTRAL FOREBRAIN | ALCOHOL SYNDROME | SONIC HEDGEHOG | GENETICS & HEREDITY | NEURAL-TUBE | 4 BRAZILIAN PATIENTS | BMP ANTAGONISM |