Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

[1]  B. Carabello,et al.  Aortic stenosis , 2018, Rapid Cardiac Care.

[2]  L. Ousager,et al.  Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. , 2017, European journal of medical genetics.

[3]  S. Miyano,et al.  Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes , 2017, Genetics in Medicine.

[4]  K. Okamura,et al.  Human genetic variation database, a reference database of genetic variations in the Japanese population , 2016, Journal of Human Genetics.

[5]  Shaobin Lin,et al.  Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis , 2016, Molecular Syndromology.

[6]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[7]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[8]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[9]  Eleni Giannoulatou,et al.  Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. , 2014, Journal of the American College of Cardiology.

[10]  J. M. García-Ruíz,et al.  Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening. , 2014, International journal of cardiology.

[11]  C. Haldeman-Englert,et al.  Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome , 2013, American Journal of Medical Genetics. Part A.

[12]  N. Brunetti‐Pierri,et al.  Supravalvular Aortic Stenosis: Elastin Arteriopathy , 2012, Circulation. Cardiovascular genetics.

[13]  Hongyu Zhao,et al.  Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells , 2012, Circulation.

[14]  G. Verleden,et al.  Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema , 2012, American journal of medical genetics. Part A.

[15]  Christopher A. Miller,et al.  VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. , 2012, Genome research.

[16]  R. Arnold,et al.  A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death , 2010, Cardiology in the Young.

[17]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[18]  M. Digilio,et al.  Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis , 2010, European Journal of Human Genetics.

[19]  B. Pober Williams-Beuren syndrome. , 2010, The New England journal of medicine.

[20]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[21]  J. Katumba-Lunyenya Two generations of identical twins with ELN deletion , 2009, BMJ Case Reports.

[22]  H. Yoo,et al.  Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis. , 2006, International journal of molecular medicine.

[23]  C. Badenas,et al.  Elastin Mutation Screening in a Group of Patients Affected by Vascular Abnormalities , 2005, Pediatric Cardiology.

[24]  D. Chitayat,et al.  Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. , 2002, American journal of human genetics.

[25]  J. Belmont,et al.  Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene , 2001, Human Genetics.

[26]  P. D. del Nido,et al.  Congenital supravalvar aortic stenosis: a simple lesion? , 2001, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

[27]  C. Cytrynbaum,et al.  Elastin: mutational spectrum in supravalvular aortic stenosis , 2000, European Journal of Human Genetics.

[28]  A. Munnich,et al.  Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay , 2000, Human Genetics.

[29]  B. Müller-Myhsok,et al.  A new mutation in the elastin gene causing supravalvular aortic stenosis. , 1999, The American journal of cardiology.

[30]  R. Mecham,et al.  Novel arterial pathology in mice and humans hemizygous for elastin. , 1998, The Journal of clinical investigation.

[31]  Dean Y. Li,et al.  Elastin is an essential determinant of arterial morphogenesis , 1998, Nature.

[32]  W. Reardon,et al.  Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. , 1997, Human molecular genetics.

[33]  C. Morris,et al.  Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. , 1997, Human molecular genetics.

[34]  S. Thibodeau,et al.  A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis. , 1995, Human molecular genetics.

[35]  A. Wessel,et al.  Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. , 1994, American journal of medical genetics.

[36]  C A Morris,et al.  Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. , 1994, The Journal of clinical investigation.

[37]  J. Weber,et al.  Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7. , 1993, Human molecular genetics.

[38]  M. Leppert,et al.  A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[39]  Colleen A. Morris,et al.  The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis , 1993, Cell.

[40]  M. Dumoulin,et al.  Familial supravalvular aortic stenosis. , 1978, Acta paediatrica Belgica.

[41]  A. Beuren,et al.  THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE. , 1964, The American journal of cardiology.

[42]  J. B. Lowe,et al.  Supravalvular Aortic Stenosis , 1961, Circulation.

[43]  Z. Urban,et al.  A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20 , 2001, Human mutation.