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Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.
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A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
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Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
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Ben-Shachar S...Lupski JR
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The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src.
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Akbarzadeh S...Heath JK
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Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'.
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Suzuki T...Honda Z
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A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.
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Nowakowska B...Cai WW
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Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
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Zhao X...Zhang X
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17236141 |
2007 |
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GDF5 is a second locus for multiple-synostosis syndrome.
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16532400 |
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Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
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Tufan F...Horn D
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Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
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54
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Orrico A...Sorrentino V
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15809997 |
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Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
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54
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Zankl A...Superti-Furga A
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The pathophysiology of HOX genes and their role in cancer.
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61
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Grier DG...Lappin TR
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Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients.
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de Sanctis L...de Sanctis C
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Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
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Germain-Lee EL...Levine MA
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ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
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61
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Bacchelli C...Goodman FR
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Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.
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12719376 |
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An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
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61
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Caronia G...Zappavigna V
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12620993 |
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Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.
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Olivieri C...Danesino C
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Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
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Richards AJ...Hughes H
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The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
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Albrecht AN...Mundlos S
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11850178 |
2002 |
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A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene.
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Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
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Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
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Roscioli T...Glass IA
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Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man.
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Nagy Z...Luft FC
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Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation.
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Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
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Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
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Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
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Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.
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Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe.
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Focal Xanthogranulomatous Pyelonephritis in Brachydactyly Mental Retardation Syndrome (2q37 Deletion Syndrome).
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Phosphodiesterase 3A and Arterial Hypertension.
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
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ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
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Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.
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A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
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PDE3A variant associated with hypertension and brachydactyly syndrome in a patient with ischemic stroke caused by spontaneous intracranial artery dissection: A review of the clinical and molecular genetic features.
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Clinical and molecular description of 16 families with heterozygous IHH variants.
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A novel variant of IHH in a Chinese family with brachydactyly type 1.
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[Clinical practice guidelines for brachydactyly type A1].
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Skeletal ciliopathies: a pattern recognition approach.
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Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.
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Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.
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Fan P...Zhou XL
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Forefoot malformations, deformities and other congenital defects in children.
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31648997 |
2020 |
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Brachydactyly-anonychia with congenital absent phalanges of the hand.
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Sharma R...Sharma RK
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Chronic Metacarpophalangeal Joint Instability in a Patient with Bardet-Biedl Syndrome and Brachydactyly.
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A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.
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32509852 |
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Comprehensive prosthetic rehabilitation of a case of the orofacial digital syndrome.
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Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
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Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
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