| 1 | DUP7Q11, GTF2I
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| Duplication of GTF2I Results in Separation Anxiety in Mice and Humans.
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| Mervis CB, Dida J, Lam E, Crawford-Zelli NA, Young EJ, Henderson DR, Onay T, Morris CA, Woodruff-Borden J, Yeomans J, Osborne LR.
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| Am J Hum Genet 90(6):1064-70. Epub 2012 May 10.
2012
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| 2 | DUP7Q11, ELN, GTF2I, GTF2IRD1, LIMK1, RFC2, TRIM50, WBS
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| A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
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| Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.
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| J Med Genet 47(4):271-5. Epub 2009 Sep 14.PMID: 19752158 2010
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| 3 | DUP15Q12, DUP15Q13, DUP15Q14, DUP17P11, DUP22Q11, DUP7Q11
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| Common recurrent microduplication syndromes: diagnosis and management in clinical practice.
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| Berg JS, Potocki L, Bacino CA.
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| Am J Med Genet A 152A(5):1066-78.PMID: 20425813 2010
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| 4 | DUP7Q11
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| Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
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| Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.
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| Eur J Med Genet 52(2-3):94-100. Epub 2009 Feb 26.
2009
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| 5 | DUP7Q11
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| Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.
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| Orellana C, Bernabeu J, Monfort S, Rosell— M, Oltra S, Ferrer I, Quiroga R, Mart’nez-Garay I, Mart’nez F.
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| J Med Genet 45(3):187-9. No abstract available. 2008
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| 6 | DUP7Q11
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| Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.
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| Merritt JL, Lindor NM.
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| Am J Med Genet A 146(8):1055-8. No abstract available. 2008
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| 7 | DUP7Q11
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| Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
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| Torniero C, Dalla Bernardina B, Novara F, Cerini R, Bonaglia C, Pramparo T, Ciccone R, Guerrini R, Zuffardi O.
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| Eur J Hum Genet 16(8):880-7. Epub 2008 Mar 12. 2008
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| 8 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
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| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
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| Ramocki MB, Zoghbi HY.
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| Nature 455(7215):912-8.
2008
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| 9 | WBS, DUP7Q11
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| Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
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| Torniero C, Bernardina BD, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.
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| Eur J Hum Genet 15(1):62-7. Epub 2006 Oct 31. 2007
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| 10 | DUP5Q35, DUP7Q11, DEL1P36
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| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
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| Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
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| Eur J Med Genet 50(1):33-42. Epub 2006 Oct 10. 2007
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| 11 | DEL1P36, DUP5Q35, DUP7Q11
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| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8 percent of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
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| Kirchhoff M, Bisgaard AM, Bryndorf T, Gerdes T.
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| Eur J Med Genet 50(1):33-42. Epub 2006 Oct 10. 2007
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| 12 | DUP7Q11, AUTS2
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| Autism, language delay and mental retardation in a patient with 7q11 duplication.
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| Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, Leguern E, Leboyer M, Brice A.
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| J Med Genet [Epub ahead of print] 2007
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| 13 | DUP7Q11
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| Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
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| Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.
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| Genet Med 9(7):427-41. 2007
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| 14 | DUP7Q11
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| Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
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| Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH.
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| Eur J Hum Genet 14(2):180-9. 2006
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| 15 | WBS, AS, PWS, DEL22Q11, DUP15Q12, DUP7Q11,DUP22Q11
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| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
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| Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
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| Eur J Hum Genet 14(7):831-7. Epub 2006 Apr 12. 2006
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| 16 | DUP7Q11, WBS
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| Severe expressive-language delay related to duplication of the Williams-Beuren locus.
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| Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Perez-Jurado LA, Morris CA, Scherer SW, Osborne LR.
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| N Engl J Med 353(16):1694-701. 2005
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| 17 | DUP7Q11, RG7
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| Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.
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| Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA.
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| Am J Med Genet A 132(1):93-100. Review. 2005
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