• (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I
• A female with Angelman syndrome and unusual limb deformities
• A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes
• A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods
• A new mutation in the gene ROR2 causes brachydactyly type B1
• A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN
• A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
• A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B
• A novel <em>NPR2</em> mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
• A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux
• A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B
• A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family
• A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
• A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
• A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
• Amniotic disease in the mother and severe heart abnormalities in 2 infants
• Antivascular endothelial growth factor in hereditary dystrophies
• Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
• Biallelic cGMP-dependent type II protein kinase gene (<em>PRKG2</em>) variants cause a novel acromesomelic dysplasia
• Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
• BMP antagonists in tissue development and disease
• Brachydactyly type B and symphalangism in different members of a Mexican family
• Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity
• Brachydactyly type B: a rare case report and literature review
• Brachydactyly type B: case report and further evidence for clinical heterogeneity
• Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
• Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity
• Brachydactyly type B1: report of a family with de novo ROR2 mutation
• Brachydactyly, anonychia and a deformed nasal tip in a 16-year-old girl: a case report
• Characteristic facies in type B brachydactyly?
• Characteristic facies in type B brachydactyly?
• Classification and identification of inherited brachydactylies
• Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
• Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome
• Clinical effects of phosphodiesterase 3A mutations in inherited hypertension with brachydactyly
• Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue
• Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome
• Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B
• Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
• Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
• Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
• Dominantly inherited unilateral terminal transverse defects of the hand (adactylia) in twin sisters and one daughter
• Expression and function of the Ror-family receptor tyrosine kinases during development: lessons from genetic analyses of nematodes, mice, and humans
• Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
• Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance
• Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
• Genetic analysis of a Chinese pedigree affected with Brachydactyly type B1 due to a novel variant of ROR2 gene
• Genetic interactions between Ror2 and Wnt9a, Ror1 and Wnt9a and Ror2 and Ror1: Phenotypic analysis of the limb skeleton and palate in compound mutants
• Greig cephalopolysyndactyly syndrome
• Heterozygous manifestations in the heritable disorders of the skeleton
• Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B
• Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B
• Intravitreal anti-vascular endothelial growth factor therapy for choroidal neovascularization due to Sorsby macular dystrophy
• Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2
• Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage
• Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1
• Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
• Mutation screening in candidate genes in four Chinese brachydactyly families
• Mutations in the gene encoding SLURP-1 in Mal de Meleda
• Mutations of the TWIST gene in the Saethre-Chotzen syndrome
• Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
• Novel domains of expression for orphan receptor tyrosine kinase Ror2 in the human and mouse reproductive system
• Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum
• One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B
• P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes
• Pancreatic cystic dysplasia (dysgenesis) presenting as a surgical pathology specimen in a patient with multiple malformations and familial ear pits
• Phosphodiesterase 3A and Arterial Hypertension
• Pregnancy after preimplantation genetic diagnosis for brachydactyly type B
• Ranibizumab for the management of Sorsby fundus dystrophy
• Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
• Reticular Pseudodrusen in Sorsby Fundus Dystrophy
• ROR-Family Receptor Tyrosine Kinases
• Ror-family receptor tyrosine kinases in noncanonical Wnt signaling: their implications in developmental morphogenesis and human diseases
• Ror2-Src signaling in metastasis of mouse melanoma cells is inhibited by NRAGE
• Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome
• Sorsby syndrome: a report on further generations of the original family
• Study of fingerprints in 12 cases of hereditary brachydactyly type C and E (author's transl)
• The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src
• The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome
• The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish
• The receptor tyrosine kinase Ror2 associates with the melanoma-associated antigen (MAGE) family protein Dlxin-1 and regulates its intracellular distribution
• Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?
• Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet
• Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2
• Wnt signaling in development and disease
• Wnt signaling through the Ror receptor in the nervous system
• Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling