Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

[1]  Azubel Ramírez-Velazco,et al.  [Atypical deletions in Williams-Beuren syndrome]. , 2017, Revista medica del Instituto Mexicano del Seguro Social.

[2]  H. Yoo,et al.  Endocrine dysfunctions in children with Williams-Beuren syndrome , 2016, Annals of pediatric endocrinology & metabolism.

[3]  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.

[4]  H. Rivera,et al.  Two further triple-X/rea(X) females in an inv(X)(p22q22) family , 2016, Journal of Genetics.

[5]  Xueqin Xu,et al.  Delineation variable genotype/phenotype correlations of 6q27 terminal deletion derived from dic(6;18)(q27;p10) , 2014, Molecular Cytogenetics.

[6]  P. Stankiewicz,et al.  Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27 , 2014, European Journal of Human Genetics.

[7]  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.

[8]  C. Mervis,et al.  The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function , 2012, Proceedings of the National Academy of Sciences.

[9]  C. Kim,et al.  Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries , 2012, BMC Research Notes.

[10]  R. Knutsen,et al.  Evidence for heterozygous abnormalities of the elastin gene (ELN) affecting the quantity of vocal fold elastic fibers: a pilot study. , 2011, Journal of voice : official journal of the Voice Foundation.

[11]  C. Mervis,et al.  Genome Rearrangements Detected by SNP Microarrays in Individuals with Intellectual Disability Referred with Possible Williams Syndrome , 2010, PloS one.

[12]  C. Morris Introduction: Williams syndrome , 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

[13]  Nicola Brunetti-Pierri,et al.  Copy number variants at Williams–Beuren syndrome 7q11.23 region , 2010, Human Genetics.

[14]  P. Kaplan,et al.  Long-term outcomes of patients with cardiovascular abnormalities and williams syndrome. , 2010, The American journal of cardiology.

[15]  C. Schubert The genomic basis of the Williams – Beuren syndrome , 2008, Cellular and Molecular Life Sciences.

[16]  L. Peruzzi,et al.  Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. , 2007, European journal of medical genetics.

[17]  C. Morris,et al.  Health Care Supervision for Children With Williams Syndrome , 2001, Pediatrics.

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

[19]  J. Delhanty,et al.  Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. , 1995, Journal of medical genetics.

[20]  C. Morris,et al.  Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. , 1995, American journal of human genetics.

[21]  L. Shaffer,et al.  Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. , 1995, American journal of human genetics.

[22]  B. Pober,et al.  Renal findings in 40 individuals with Williams syndrome. , 1993, American journal of medical genetics.

[23]  N. Kalis,et al.  Computerized Tomography Use in Williams–Beuren Syndrome Aortopathy , 2017, Heart views : the official journal of the Gulf Heart Association.

[24]  Alexandre Reymond,et al.  An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient , 2010, European Journal of Human Genetics.

[25]  J. Moeschler,et al.  American Academy of Pediatrics: Health care supervision for children with Williams syndrome. , 2001, Pediatrics.