Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
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C. Sismani | G. Tanteles | P. Evangelidou | A. Alexandrou | N. Nicolaou | L. Kousoulidou | Ioannis Papaevripidou | Andria Ketoni | N. Salameh | Panayiotis Myrianthopoulos | Anna-Maria Anastasiou | Nicole Salameh
[1] P. Lapunzina,et al. Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients , 2022, Genes.
[2] Seok-Yong Choi,et al. A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients , 2022, Journal of clinical medicine.
[3] Wiktoria Czech,et al. Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies , 2021, Frontiers in Genetics.
[4] Hongmei Wang,et al. Insights into the molecular regulatory network of pathomechanisms in osteochondroma , 2019, Journal of cellular biochemistry.
[5] R. Redon,et al. Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability. , 2018, Clinica chimica acta; international journal of clinical chemistry.
[6] M. Pacifici. Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments , 2017, Current Osteoporosis Reports.
[7] Laura A. Crinnion,et al. A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome , 2016, PloS one.
[8] M. Loizidou,et al. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas , 2015, Journal Genetika.
[9] M. Cáceres,et al. Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript , 2015, PLoS genetics.
[10] C. Sismani,et al. Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature , 2015, American journal of medical genetics. Part A.
[11] V. Beneš,et al. Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation , 2014, PloS one.
[12] Andy Wing Chun Pang,et al. Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome , 2013, Human mutation.
[13] M. I. Melaragno,et al. Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene , 2012, Molecular Cytogenetics.
[14] Harris Morrison,et al. Enhancer‐adoption as a mechanism of human developmental disease , 2011, Human mutation.
[15] Peiqiang Su,et al. Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses. , 2010, Genetic testing and molecular biomarkers.
[16] L. Sangiorgi,et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) , 2009, Human mutation.
[17] Jeffrey D. Esko,et al. Heparan sulphate proteoglycans fine-tune mammalian physiology , 2007, Nature.
[18] J. Dormans,et al. Manifestations of Hereditary Multiple Exostoses , 2005, The Journal of the American Academy of Orthopaedic Surgeons.
[19] M. Rocchi,et al. Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male , 2003, American journal of medical genetics. Part A.
[20] W. Cole,et al. Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. , 2002, American journal of medical genetics.
[21] A. Munnich,et al. Genotype-phenotype correlation in hereditary multiple exostoses , 2001, Journal of medical genetics.
[22] W. Wuyts,et al. Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes , 2000, Human Mutation.
[23] M. Wagner,et al. Genomic organization and promoter structure of the human EXT1 gene. , 1997, Genomics.
[24] M. Wagner,et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) , 1995, Nature Genetics.
[25] G. Turner,et al. Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). , 1991, Journal of medical genetics.
[26] A. Latos-Bieleńska,et al. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. , 1991, American journal of human genetics.
[27] D. Porter,et al. Can deformity of the knee and longitudinal growth of the leg be predicted in patients with hereditary multiple exostoses? A cross-sectional study. , 2014, The Knee.
[28] B. Romanus,et al. Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes. , 2004, International journal of molecular medicine.
[29] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[30] S. Selleck,et al. Order out of chaos: assembly of ligand binding sites in heparan sulfate. , 2002, Annual review of biochemistry.