Published in Hum Mutat on December 01, 2009
Covalent histone modifications--miswritten, misinterpreted and mis-erased in human cancers. Nat Rev Cancer (2010) 6.27
Cartilage tumours and bone development: molecular pathology and possible therapeutic targets. Nat Rev Cancer (2010) 1.63
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12
Heparan sulfate in skeletal development, growth, and pathology: the case of hereditary multiple exostoses. Dev Dyn (2013) 1.08
On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. J Biol Chem (2012) 1.04
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep (2013) 1.03
Chondrosarcoma: with updates on molecular genetics. Sarcoma (2011) 1.01
Glycobiology and the growth plate: current concepts in multiple hereditary exostoses. J Pediatr Orthop (2011) 0.99
FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling. PLoS Genet (2015) 0.99
Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice. Bone (2013) 0.94
An orthotopic mouse model for chondrosarcoma of bone provides an in vivo tool for drug testing. Virchows Arch (2014) 0.91
Heparanase stimulates chondrogenesis and is up-regulated in human ectopic cartilage: a mechanism possibly involved in hereditary multiple exostoses. Am J Pathol (2015) 0.90
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. PLoS Genet (2014) 0.90
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. JIMD Rep (2012) 0.83
Proliferation assays (BrdU and EdU) on skeletal tissue sections. Methods Mol Biol (2014) 0.82
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet (2011) 0.82
Insights into complexity of congenital disorders of glycosylation. Biochem Med (Zagreb) (2012) 0.81
Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat? Ital J Pediatr (2015) 0.81
Renal tumours: long-term outcome. Pediatr Nephrol (2011) 0.81
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. Sci Rep (2014) 0.81
Detection of exostosin glycosyltransferase gene mutations in patients with non-hereditary osteochondromas of the mandibular condyle. Mol Clin Oncol (2016) 0.78
Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (2014) 0.78
Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members. Springerplus (2016) 0.78
EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis. Skeletal Radiol (2011) 0.77
Clinical and molecular studies of EXT1/EXT2 in Bulgaria. J Inherit Metab Dis (2011) 0.77
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses. PLoS One (2014) 0.77
Identification of a novel EXT1 mutation in patients with hereditary multiple exostosis by exome sequencing. Oncol Rep (2014) 0.76
Hereditary Multiple Exostoses: a review of clinical appearance and metabolic pattern. Clin Cases Miner Bone Metab (2016) 0.75
Multiple osteochondromas (MO) in the forearm: a 12-year single-centre experience. Strategies Trauma Limb Reconstr (2016) 0.75
Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma. Genet Test Mol Biomarkers (2012) 0.75
Reconstruction of the DRUJ in a young adult after resection of a large exostosis of the distal radius. Strategies Trauma Limb Reconstr (2015) 0.75
Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses. Biomedicine (Taipei) (2014) 0.75
Assessing the general population frequency of rare coding variants in the EXT1 and EXT2 genes previously implicated in hereditary multiple exostoses. Bone (2016) 0.75
Immunohistochemical Localization of Bone Morphogenetic Proteins (BMPs) and their Receptors in Solitary and Multiple Human Osteochondromas. J Histochem Cytochem (2014) 0.75
Identification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma. Oncol Lett (2015) 0.75
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas. Ther Clin Risk Manag (2016) 0.75
Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. BMC Genet (2016) 0.75
Multiple heriditary exostoses in a family for three generation of Indian origin with review of literature. J Clin Diagn Res (2014) 0.75
Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments. Curr Osteoporos Rep (2017) 0.75
Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet (2009) 3.89
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet (2004) 2.98
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Genome-wide association study identifies three new melanoma susceptibility loci. Nat Genet (2011) 2.29
Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion. Br J Haematol (2005) 2.00
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet (2003) 1.90
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet (2002) 1.72
Platelet-derived growth factors enhance proliferation of human stromal stem cells. Biomaterials (2003) 1.61
Canine tumor cross-species genomics uncovers targets linked to osteosarcoma progression. BMC Genomics (2009) 1.57
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin Chem (2012) 1.52
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
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A (2006) 1.40
A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development (2002) 1.35
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet (2011) 1.34
Compliance and persistence in pediatric and adult patients receiving growth hormone therapy. Endocr Pract (2008) 1.32
Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder? J Med Genet (2010) 1.31
Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy. Congenit Heart Dis (2011) 1.29
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A (2009) 1.24
Genome-wide analysis of Ollier disease: Is it all in the genes? Orphanet J Rare Dis (2011) 1.24
Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom. Cancer Epidemiol Biomarkers Prev (2010) 1.20
A variant in FTO shows association with melanoma risk not due to BMI. Nat Genet (2013) 1.17
Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat (2004) 1.17
Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of "protective" and "risk" factors. J Bone Joint Surg Am (2011) 1.17
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
A subterminal deletion of the long arm of chromosome 10: a clinical report and review. Am J Med Genet A (2006) 1.14
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet (2008) 1.14
Beyond white blood cell monitoring: screening in the initial phase of clozapine therapy. J Clin Psychiatry (2012) 1.09
Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone. J Clin Endocrinol Metab (2009) 1.08
Evaluation of the anatomic burden of patients with hereditary multiple exostoses. Clin Orthop Relat Res (2007) 1.08
A Dutch guideline for the use of clozapine. Aust N Z J Psychiatry (2010) 1.08
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
Combined vascular endothelial growth factor and TP53 status predicts poor response to tamoxifen therapy in estrogen receptor-positive advanced breast cancer. Clin Cancer Res (2003) 1.04
Prognostic value of CCN3 in osteosarcoma. Clin Cancer Res (2008) 1.04
Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat (2010) 1.03
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
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
Acromegaly: the disease, its impact on patients, and managing the burden of long-term treatment. Int J Gen Med (2013) 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
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
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. Genet Med (2008) 0.90
Extrapulmonary lymphangioleiomyomatosis: a wolf in sheep's clothing. Thorax (2012) 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
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. Clin Chem (2004) 0.88
An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A (2005) 0.87
The mathematical model for total pubertal growth in idiopathic growth hormone (GH) deficiency suggests a moderate role of GH dose. J Clin Endocrinol Metab (2003) 0.87
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients. Mitochondrion (2008) 0.87
Development of genomic reference materials for Huntington disease genetic testing. Genet Med (2007) 0.86
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis (2011) 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
Clinical and molecular analysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet (2003) 0.85
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Hum Mutat (2011) 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
Seven BMPs and all their receptors are simultaneously expressed in osteosarcoma cells. Int J Oncol (2002) 0.84
Changes in height, weight, and body mass index in children with craniopharyngioma after three years of growth hormone therapy: analysis of KIGS (Pfizer International Growth Database). J Clin Endocrinol Metab (2004) 0.84
Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus. Genes Chromosomes Cancer (2008) 0.84
Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol Genet Metab (2010) 0.84
Microsatellite instability in sporadic colon carcinomas has no independent prognostic value in a Belgian study population. Eur J Cancer (2008) 0.84
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn (2007) 0.83
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. Am J Med Genet A (2008) 0.83
Gender does not influence prepubertal growth velocity during standard growth hormone therapy--analysis of United States KIGS data. J Pediatr Endocrinol Metab (2005) 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
Troglitazione affects survival of human osteosarcoma cells. Int J Cancer (2002) 0.83
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
Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas families. BMC Med Genet (2011) 0.82
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
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. Am J Med Genet A (2014) 0.80
The KIGS experience with the addition of gonadotropin-releasing hormone agonists to growth hormone (GH) treatment of children with idiopathic GH deficiency. Horm Res (2003) 0.80
Diagnostic workup for diffuse parenchymal lung disease: schematic flowchart, literature review, and pitfalls. Lung (2012) 0.80
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