Published in J Bone Joint Surg Am on December 21, 2011
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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet (2007) 1.46
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet (2011) 1.41
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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
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Stromal stem cells and platelet-rich plasma improve bone allograft integration. Clin Orthop Relat Res (2005) 1.16
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
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Bisphosphonate treatment of aggressive primary, recurrent and metastatic Giant Cell Tumour of Bone. BMC Cancer (2010) 1.13
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Caveolin-1 reduces osteosarcoma metastases by inhibiting c-Src activity and met signaling. Cancer Res (2007) 1.07
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci (2011) 1.05
Prognostic value of CCN3 in osteosarcoma. Clin Cancer Res (2008) 1.04
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Overcoming glutathione S-transferase P1-related cisplatin resistance in osteosarcoma. Cancer Res (2008) 1.02
A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. Genes Chromosomes Cancer (2007) 1.01
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Association of MiR-126 with soluble mesothelin-related peptides, a marker for malignant mesothelioma. PLoS One (2011) 1.01
Second malignancy in 597 patients with ewing sarcoma of bone treated at a single institution with adjuvant and neoadjuvant chemotherapy between 1972 and 1999. J Pediatr Hematol Oncol (2005) 1.00
CD99 acts as an oncosuppressor in osteosarcoma. Mol Biol Cell (2006) 1.00
Detection of microsatellite instability in colorectal cancer using an alternative multiplex assay of quasi-monomorphic mononucleotide markers. J Mol Diagn (2008) 0.99
Matrix-assisted autologous chondrocyte transplantation for the repair of cartilage defects of the knee: systematic clinical data review and study quality analysis. Am J Sports Med (2009) 0.99
CNV-WebStore: online CNV analysis, storage and interpretation. BMC Bioinformatics (2011) 0.98
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet (2013) 0.96
Insulin-like growth factor binding protein 3 as an anticancer molecule in Ewing's sarcoma. Int J Cancer (2006) 0.95
The use of prolonged peripheral neural blockade after lower extremity amputation: the effect on symptoms associated with phantom limb syndrome. Anesth Analg (2010) 0.94
Chondrosarcoma of the chest wall: a clinical analysis. Surg Today (2002) 0.94
Second malignant neoplasm in patients with osteosarcoma of the extremities treated with adjuvant and neoadjuvant chemotherapy. J Pediatr Hematol Oncol (2006) 0.93
Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses. Dev Biol (2013) 0.91
Pulmonary lymphangitic carcinomatosis as a primary manifestation of gastric carcinoma in a young adult: a case report and review of the literature. BMC Res Notes (2012) 0.90
Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas. Hum Mutat (2005) 0.90
Pelvic resections. Orthopedics (2012) 0.90
Extrapulmonary lymphangioleiomyomatosis: a wolf in sheep's clothing. Thorax (2012) 0.90
Predictive factors of histologic response to primary chemotherapy in patients with Ewing sarcoma. J Pediatr Hematol Oncol (2007) 0.90
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review. Clin Dysmorphol (2007) 0.89
Living with rotationplasty--quality of life in rotationplasty patients from childhood to adulthood. J Surg Oncol (2012) 0.89
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. Clin Chem (2004) 0.88
Clinical and radiographic distribution of structural damage in erosive and nonerosive hand osteoarthritis. Arthritis Care Res (Hoboken) (2012) 0.87
An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A (2005) 0.87
Delayed methotrexate clearance in osteosarcoma patients treated with multiagent regimens of neoadjuvant chemotherapy. Oncol Rep (2003) 0.87
Loss of β-catenin induces multifocal periosteal chondroma-like masses in mice. Am J Pathol (2012) 0.87
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion (2008) 0.87
Neoadjuvant chemotherapy for osteosarcoma of the extremities in patients aged 41-60 years: outcome in 34 cases treated with adriamycin, cisplatinum and ifosfamide between 1984 and 1999. Acta Orthop (2007) 0.87
Profiling tumor-associated markers for early detection of malignant mesothelioma: an epidemiologic study. Cancer Epidemiol Biomarkers Prev (2008) 0.87
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis (2011) 0.85
Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet (2003) 0.85
Comparison of three commonly used PCR-based techniques to analyze MSI status in sporadic colorectal cancer. J Clin Lab Anal (2006) 0.85
Biological indicators of prognosis in Ewing's sarcoma: an emerging role for lectin galactoside-binding soluble 3 binding protein (LGALS3BP). Int J Cancer (2010) 0.85
Osteosarcoma associated with hyperparathyroidism. Skeletal Radiol (2004) 0.85
Seven BMPs and all their receptors are simultaneously expressed in osteosarcoma cells. Int J Oncol (2002) 0.84
Bone metastases in osteosarcoma patients treated with neoadjuvant or adjuvant chemotherapy: the Rizzoli experience in 52 patients. Acta Orthop (2006) 0.84
Microsatellite instability in sporadic colon carcinomas has no independent prognostic value in a Belgian study population. Eur J Cancer (2008) 0.84
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. Am J Med Genet A (2008) 0.83
Troglitazione affects survival of human osteosarcoma cells. Int J Cancer (2002) 0.83
Inhibition of angiogenic activity of renal carcinoma by an antisense oligonucleotide targeting fibroblast growth factor-2. Anticancer Res (2005) 0.83
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome. Hum Genet (2010) 0.83
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet (2011) 0.82
Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene. Eur J Pediatr (2003) 0.82
Electrochemotherapy treatment of locally advanced and metastatic soft tissue sarcomas: results of a non-comparative phase II study. World J Surg (2014) 0.82
Use of polyurethane foam inside plaster casts to prevent the onset of heel sores in the population at risk. A controlled clinical study. J Clin Nurs (2011) 0.81
Identification and functional characterization of the human EXT1 promoter region. Gene (2011) 0.81
A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). Am J Med Genet A (2005) 0.81
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mutat (2007) 0.80
Validation of a new multiple osteochondromas classification through Switching Neural Networks. Am J Med Genet A (2013) 0.80
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet A (2014) 0.80
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Effect of oral contraceptive on ovarian function in young females undergoing neoadjuvant chemotherapy treatment for osteosarcoma. Oncol Rep (2002) 0.79
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene. Arch Iran Med (2008) 0.79