C Schubert. The genomic basis of the Williams-Beuren syndrome. „Cellular and Molecular Life Sciences”. 66 (7), s. 1178-97, 2009. DOI: 10.1007/s00018-008-8401-y. PMID: 19039520.
C Tyson, Y Qiao, C Harvard, X Liu i inni. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.. „Molecular Cytogenetics”. 1, s. 23, 2008. DOI: 10.1186/1755-8166-1-23. PMID: 19000322.
AC. Woerner, KS. Au, AT. Williams, PC. Harris i inni. Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.. „Genetics in Medicine”. 8 (3), s. 197-8, 2006. DOI: 10.1097/01.gim.0000204466.34876.d5. PMID: 16540757.
Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. „American journal of medical genetics. Part A”. 11 (140), s. 1214–8, czerwiec 2006. DOI: 10.1002/ajmg.a.31229. PMID: 16646034.
Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. „European journal of human genetics : EJHG”. 4 (13), s. 409–13, kwiecień 2005. DOI: 10.1038/sj.ejhg.5201358. PMID: 15702131.
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.. „Am J Hum Genet”. 80. 4, s. 633-49, 2007. DOI: 10.1086/512864. PMID: 17357070.
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ncbi.nlm.nih.gov
C Schubert. The genomic basis of the Williams-Beuren syndrome. „Cellular and Molecular Life Sciences”. 66 (7), s. 1178-97, 2009. DOI: 10.1007/s00018-008-8401-y. PMID: 19039520.
C Tyson, Y Qiao, C Harvard, X Liu i inni. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.. „Molecular Cytogenetics”. 1, s. 23, 2008. DOI: 10.1186/1755-8166-1-23. PMID: 19000322.
A Moncla, MO Livet, M Auger, JF Mattei i inni. Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. „Journal of Medical Genetics”. 28 (9), s. 627-32, 1991. PMID: 1956064.
AC. Woerner, KS. Au, AT. Williams, PC. Harris i inni. Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.. „Genetics in Medicine”. 8 (3), s. 197-8, 2006. DOI: 10.1097/01.gim.0000204466.34876.d5. PMID: 16540757.
Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. „American journal of medical genetics. Part A”. 11 (140), s. 1214–8, czerwiec 2006. DOI: 10.1002/ajmg.a.31229. PMID: 16646034.
Brémond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. „European journal of human genetics : EJHG”. 4 (13), s. 409–13, kwiecień 2005. DOI: 10.1038/sj.ejhg.5201358. PMID: 15702131.
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.. „Am J Hum Genet”. 80. 4, s. 633-49, 2007. DOI: 10.1086/512864. PMID: 17357070.
