| 1 | DNAJC30, WBS
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| The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. 2018 PMID:
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| Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N.
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| Cell Nov 1;175(4):1088-1104.e23. doi: 10.1016/j.cell.2018.09.014. 2018
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| 2 | WBS, YWHAG
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| Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
|
| Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C, Spartà MV, Kluger G, Capovilla G, Pruna D, Freri E, D'Arrigo S, Verrotti A.
|
| Am J Med Genet A 170A(1):148-55. doi: 10.1002/ajmg.a.37410. Epub 2015 Oct 5.
2016
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| 3 | ELN, WBS
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| Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
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| Li L, Huang L, Luo Y, Huang X, Lin S, Fang Q.
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| Mol Syndromol 6(6):268-75. doi: 10.1159/000443942. Epub 2016 Feb 2.
2016
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| 4 | GTF2IRD1, WBS
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| The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.
|
| Canales CP, Wong AC, Gunning PW, Housley GD, Hardeman EC, Palmer SJ.
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| Eur J Hum Genet 23(6):774-80. doi: 10.1038/ejhg.2014.188. Epub 2014 Sep 24.
2015
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| 5 | WBS, YWHAG
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| Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
|
| Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.
|
| Eur J Hum Genet 22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.
2014
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| 6 | ELN, WBS
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| Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
|
| Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M.
|
| Am J Med Genet A 161A(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7.
2013
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| 7 | CLIP2, WBS
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| The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome.
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| Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF.
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| Am J Hum Genet 90(6):1071-8. Epub 2012 May 17.
2012
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| 8 | GTF2IRD2, WBS
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| A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome.
|
| Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M.
|
| PLoS One 7(10):e47457. doi: 10.1371/journal.pone.0047457. Epub 2012 Oct 31.
2012
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| 9 | WBS
|
| The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.
|
| Jabbi M, Kippenhan JS, Kohn P, Marenco S, Mervis CB, Morris CA, Meyer-Lindenberg A, Berman KF.
|
| Proc Natl Acad Sci U S A 109(14):E860-6. doi: 10.1073/pnas.1114774109. Epub 2012 Mar 12.
2012
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| 10 | GTF2IRD1, WBS
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| Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
|
| Howard ML, Palmer SJ, Taylor KM, Arthurson GJ, Spitzer MW, Du X, Pang TY, Renoir T, Hardeman EC, Hannan AJ.
|
| Neurobiol Dis 45(3):913-22. doi: 10.1016/j.nbd.2011.12.010. Epub 2011 Dec 11.
2012
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| 11 | WBS
|
| Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients.
|
| Bedeschi MF, Bianchi V, Colli AM, Natacci F, Cereda A, Milani D, Maitz S, Lalatta F, Selicorni A.
|
| Am J Med Genet A 155(2):353-9. doi: 10.1002/ajmg.a.33819. Epub 2011 Jan 13.PMID: 21271653 2011
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| 12 | GTF2I, WBS
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| Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
|
| Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.
|
| Autism Res 4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.
2011
|
| 13 | GTF2I, GTF2IRD1, WBS
|
| An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
|
| Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G.
|
| Eur J Hum Genet 18(1):33-8. Epub .
2010
|
| 14 | ELN, WBS
|
| Pulmonary function and emphysema in Williams-Beuren syndrome.
|
| Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK.
|
| Am J Med Genet A 152A(3):653-6.PMID: 20186780 2010
|
| 15 | DUP7Q11, ELN, GTF2I, GTF2IRD1, LIMK1, RFC2, TRIM50, WBS
|
| A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
|
| 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
|
| 16 | DEL12Q14, WBS
|
| A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.
|
| Gimelli S, Chrast J, Baban A, Henrichsen CN, Lerone M, Zuffardi O, Gimelli G, Reymond A.
|
| Am J Med Genet A 152A(5):1285-94.PMID: 20425838 2010
|
| 17 | WBS
|
| Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
|
| Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P.
|
| Am J Med Genet C Semin Med Genet 154C(2):220-8.PMID: 20425783 2010
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| 18 | WBS
|
| Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches.
|
| Mervis CB, John AE.
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| Am J Med Genet C Semin Med Genet 154C(2):229-48.PMID: 20425784 2010
|
| 19 | WBS
|
| Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing.
|
| Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL.
|
| Am J Med Genet C Semin Med Genet 154C(2):249-65.PMID: 20425785 2010
|
| 20 | WBS
|
| Longitudinal course of anxiety in children and adolescents with Williams syndrome.
|
| Woodruff-Borden J, Kistler DJ, Henderson DR, Crawford NA, Mervis CB.
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| Am J Med Genet C Semin Med Genet 154C(2):277-90.PMID: 20425787 2010
|
| 21 | WBS
|
| High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.
|
| Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, Osborne LR, Dzuria J, Gulanski B.
|
| Am J Med Genet C Semin Med Genet 154C(2):291-8.PMID: 20425788 2010
|
| 22 | SERPINA1, WBS
|
| Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.
|
| Morris CA, Pani AM, Mervis CB, Rios CM, Kistler DJ, Gregg RG.
|
| Am J Med Genet C Semin Med Genet 154C(2):299-306.PMID: 20425789 2010
|
| 23 | GTF2IRD1, WBS
|
| Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
|
| Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW, Hardeman EC.
|
| J Biol Chem 285(7):4715-24. Epub 2009 Dec 9. 2010
|
| 24 | WBS
|
| Copy number variants at Williams-Beuren syndrome 7q11.23 region.
|
| Merla G, Brunetti-Pierri N, Micale L, Fusco C.
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| Hum Genet 128(1):3-26. Epub 2010 May 1.PMID: 20437059 2010
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| 25 | WBS
|
| Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
|
| Antonell A, Vilardell M, Pérez Jurado LA.
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| Hum Genet 128(1):27-37. Epub 2010 Apr 17.PMID: 20401492 2010
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| 26 | GTF2I, GTF2IRD1, WBS
|
| Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
|
| Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
|
| J Med Genet 47(5):312-20. Epub 2009 Nov 5.PMID: 19897463 2010
|
| 27 | WBS
|
| The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment.
|
| Morris CA.
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| Am J Med Genet C Semin Med Genet 154C(4):427-31.PMID: 20981771 2010
|
| 28 | STX1A, WBS
|
| Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex.
|
| Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR.
|
| PLoS One 5(4):e10292.
2010
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| 29 | GTF2I, GTF2IRD1, WBS
|
| Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.
|
| Dai L, Bellugi U, Chen XN, Pulst-Korenberg AM, Järvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR.
|
| Am J Med Genet A 149A(3):302-14.
2009
|
| 30 | DEL7Q11, GTF21, GTF21RD1, WBS
|
| Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
|
| Antonell A, Del Campo M, Magano LF, Kaufmann L, Martínez de la Iglesia J, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
|
| J Med Genet Med Genet. 2009 Nov 5. [Epub ahead of print] 2009
|
| 31 | GTF2I, WBS
|
| Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.
|
| Lazebnik MB, Tussie-Luna MI, Hinds PW, Roy AL.
|
| J Biol Chem 284(52):36234-9. Epub 2009 Oct 30.PMID: 19880526 2009
|
| 32 | ISS1, MAGI2, WBS
|
| Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
|
| Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR.
|
| Am J Hum Genet 83(1):106-11. Epub 2008 Jun 19. 2008
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| 33 | WBS
|
| The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
|
| Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR.
|
| Am J Med Genet A 146A(14):1797-806. 2008
|
| 34 | TRIM50, TRIM73, TRIM74, WBS, WBSCR27
|
| Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
|
| Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A.
|
| Eur J Hum Genet 16(9):1038-49. Epub 2008 Apr 9. 2008
|
| 35 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
|
| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
|
| Ramocki MB, Zoghbi HY.
|
| Nature 455(7215):912-8.
2008
|
| 36 | ELN1, SVAS, WBS
|
| A novel 2.43 Mb deletion of 7q11.22-q11.23.
|
| Blyth M, Beal S, Huang S, Crolla J, Foulds N.
|
| Am J Med Genet A 146A(24):3206-3210. [Epub ahead of print]
2008
|
| 37 | WBS
|
| Association between cerebral shape and social use of language in Williams syndrome.
|
| Gothelf D, Searcy YM, Reilly J, Lai PT, Lanre-Amos T, Mills D, Korenberg JR, Galaburda A, Bellugi U, Reiss AL.
|
| Am J Med Genet A 146A(21):2753-61.
2008
|
| 38 | WBS, DUP7Q11
|
| Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
|
| Torniero C, Bernardina BD, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O.
|
| Eur J Hum Genet 15(1):62-7. Epub 2006 Oct 31. 2007
|
| 39 | WBS, GTF2I
|
| An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
|
| Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Gonzalez PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.
|
| J Med Genet 44(2):136-43. Epub 2006 Sep 13. 2007
|
| 40 | ATR, BPES, MDS, RCF2, RPA1, SCKL1, WBS
|
| Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling.
|
| O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA.
|
| Am J Hum Genet 81(1):77-86. Epub 2007 May 17. 2007
|
| 41 | WBS
|
| Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.
|
| Pober BR, Morris CA.
|
| Am J Med Genet C Semin Med Genet 145(3):280-90. 2007
|
| 42 | WBS, LIMK1, CLIP2
|
| Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.
|
| Marenco S, Siuta MA, Kippenhan JS, Grodofsky S, Chang WL, Kohn P, Mervis CB, Morris CA, Weinberger DR, Meyer-Lindenberg A, Pierpaoli C, Berman KF.
|
| Proc Natl Acad Sci U S A 104(38):15117-22. Epub 2007 Sep 7. 2007
|
| 43 | DEL18QD, DEL9Q34, SMS, WBS
|
| Novel microdeletion syndromes.
|
| Krantz ID, Spinner NB.
|
| Am J Med Genet C Semin Med Genet 145C(4):323-6. Review. No abstract available.
2007
|
| 44 | CYLN2, LIMK1, WBS
|
| Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.
|
| Marenco S, Siuta MA, Kippenhan JS, Grodofsky S, Chang WL, Kohn P, Mervis CB, Morris CA, Weinberger DR, Meyer-Lindenberg A, Pierpaoli C, Berman KF.
|
| Proc Natl Acad Sci U S A 104(38):15117-22. Epub 2007 Sep 7.
2007
|
| 45 | UP7Q11, WBS
|
| Williams-Beuren Syndrome: more or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development.
|
| Tassabehji M, Donnai D.
|
| Eur J Hum Genet 14(5):507-8. No abstract available. 2006
|
| 46 | WBS, NCF1
|
| Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
|
| Del Campo M, Antonell A, Magano LF, Munoz FJ, Flores R, Bayes M, Perez Jurado LA.
|
| Am J Hum Genet 78(4):533-42. Epub 2006 Jan 31. 2006
|
| 47 | WBS
|
| Submicroscopic deletion in patients with williams-beuren syndrome influences expression levels of the nonhemizygous flanking genes.
|
| Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A.
|
| Am J Hum Genet 79(2):332-41. Epub 2006 Jun 23. 2006
|
| 48 | WBS, AS, PWS, DEL22Q11, DUP15Q12, DUP7Q11,DUP22Q11
|
| Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
|
| Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.
|
| Eur J Hum Genet 14(7):831-7. Epub 2006 Apr 12. 2006
|
| 49 | WBS
|
| Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities.
|
| Gothelf D, Farber N, Raveh E, Apter A, Attias J.
|
| Neurology 66(3):390-5. 2006
|
| 50 | WBS, FKBP6
|
| Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
|
| Metcalfe K, Simeonov E, Beckett W, Donnai D, Tassabehji M.
|
| Clin Dysmorphol 14(2):61-5. 2005
|
| 51 | WBS
|
| Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
|
| Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Perez-Jurado LA, Osborne LR.
|
| Hum Genet 117(4):383-8. Epub 2005 Jun 3. 2005
|
| 52 | WBS
|
| Sigmoid diverticulitis in patients with Williams-Beuren syndrome: relatively high prevalence and high complication rate in young adults with the syndrome.
|
| Partsch CJ, Siebert R, Caliebe A, Gosch A, Wessel A, Pankau R.
|
| Am J Med Genet A 137(1):52-4. 2005
|
| 53 | DUP7Q11, WBS
|
| Severe expressive-language delay related to duplication of the Williams-Beuren locus.
|
| 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.
|
| N Engl J Med 353(16):1694-701. 2005
|
| 54 | WBS
|
| Sensorineural hearing loss in children and adults with Williams syndrome.
|
| Marler JA, Elfenbein JL, Ryals BM, Urban Z, Netzloff ML.
|
| Am J Med Genet A 138(4):318-27. 2005
|
| 55 | WBS, GTF2IRD2
|
| GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
|
| Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.
|
| Proc Natl Acad Sci U S A 101(30):11052-7. Epub 2004 Jul 08. 2004
|
| 56 | WBS
|
| Multisystem study of 20 older adults with Williams syndrome.
|
| Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR.
|
| Am J Med Genet 131A(3):255-264. 2004
|
| 57 | WBS
|
| Mutational mechanisms of Williams-Beuren syndrome deletions.
|
| Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA.
|
| Am J Hum Genet 73(1):131-51. Epub 2003 Jun 09. 2003
|
| 58 | ELN, WBS
|
| Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
|
| Tassabehji M.
|
| Hum Mol Genet 12 Suppl 2:R229-37. Epub 2003 Sep 02. 2003
|
| 59 | FKBP6, WBS
|
| Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.
|
| Crackower MA, Kolas NK, Noguchi J, Sarao R, Kikuchi K, Kaneko H, Kobayashi E, Kawai Y, Kozieradzki I, Landers R, Mo R, Hui CC, Nieves E, Cohen PE, Osborne LR, Wada T, Kunieda T, Moens PB, Penninger JM.
|
| Science 300(5623):1291-5. 2003
|
| 60 | GTF2I, WBS
|
| GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
|
| Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.
|
| Am J Med Genet A 123(1):45-59. 2003
|
| 61 | GTF2I, NCF1, POM121, EIF4H, MLXIPL, WBS
|
| Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.
|
| DeSilva U, Elnitski L, Idol JR, Doyle JL, Gan W, Thomas JW, Schwartz S, Dietrich NL, Beckstrom-Sternberg SM, McDowell JC, Blakesley RW, Bouffard GG, Thomas PJ, Touchman JW, Miller W, Green ED.
|
| Genome Res 12(1):3-15. 2002
|
| 62 | WBS
|
| Prevalence estimation of Williams syndrome.
|
| Stromme P, Bjornstad PG, Ramstad K.
|
| J Child Neurol 17(4):269-71. 2002
|
| 63 | WBS
|
| Prevalence estimation of Williams syndrome.
|
| Strømme P, Bjørnstad PG, Ramstad K.
|
| J Child Neurol 17(4):269-71.
2002
|
| 64 | EIF4H, WBS
|
| A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
|
| Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW.
|
| Nat Genet 29(3):321-5. 2001
|
| 65 | WBS
|
| Dorsal forebrain anomaly in Williams syndrome
|
| Galaburda AM, Schmitt JE, Atlas SW, Eliez S, Bellugi U, Reiss AL.
|
| Arch Neurol 58(11):1865-9. 2001
|
| 66 | WBS
|
| American Academy of Pediatrics: Health care supervision for children with Williams syndrome.
|
| Committee on Genetics.
|
| Pediatrics 107(5):1192-204. Erratum in: Pediatrics 2002 Feb;109(2):329. 2001
|
| 67 | FKBP6, POM121, WBS
|
| A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
|
| Peoples R, Franke Y, Wang YK, Perez-Jurado L, Paperna T, Cisco M, Francke U.
|
| Am J Hum Genet 66(1):47-68. 2000
|
| 68 | GTF2IL, GTF2IP1, GTF2IP2, PMS2L3, POM121L1, STAG3, STAG3L1, WBS
|
| Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the williams-beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion.
|
| Valero MC, de Luis O, Cruces J, Perez Jurado LA.
|
| Genomics 69(1):1-13. 2000
|
| 69 | WBS
|
| Williams syndrome: from genotype through to the cognitive phenotype.
|
| Donnai D, Karmiloff-Smith A.
|
| Am J Med Genet 97(2):164-71. Review. 2000
|
| 70 | LIMK1, STX1A, WBS
|
| Williams syndrome : use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
|
| Tassabehji M, et al.
|
| Am J Hum Genet 64 : 118-125. 1999
|
| 71 | GTF2IRD1, WBS
|
| Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
|
| Osborne LR, et al.
|
| Genomics 57(2):279-84. 1999
|
| 72 | WBS
|
| Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.
|
| Kara-Mostefa A, et al.
|
| Am J Hum Genet 64(5):1475-8. No abstract available 1999
|
| 73 | WBS
|
| Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
|
| Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B.
|
| J Med Genet 36 : 478-480. 1999
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| 74 | WBS, CLDN3, CLDN4
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| A complete physical contig and partial transcript map of the williams syndrome critical region.
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| Hockenhull EL, et al.
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| Genomics 58(2):138-45. 1999
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| 75 | WBS
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| Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.
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| DeSilva U, et al.
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| Genome Res 9(5):428-36. 1999
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| 76 | WBS
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| A case of Williams syndrome with a large, visible cytogenetic deletion.
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| Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A.
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| J Med Genet 36(12):928-32. No abstract available 1999
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| 77 | GTF2I, GTF2IP1, WBS
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| A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
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| Wang YK, Perez-Jurado LA, Francke U.
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| Genomics 48(2):163-70. 1998
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| 78 | WBS
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| Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
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| Wu YQ, et al.
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| Am J Med Genet 78 : 82-89. 1998
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| 79 | STX1A, WBS
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| Hemizygous deletion of the HPC-1/syntaxin 1A gene (STX1A) in patients with Williams syndrome.
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| Nakayama T, et al.
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| Cytogenet Cell Genet 82 : 49-51. 1998
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| 80 | FKBP4, WBS
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| A novel human gene FKBP6 is deleted in Williams syndrome.
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| Meng X, et al.
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| Genomics 52 : 130-137. 1998
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| 81 | BAZ1B, WBS
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| A novel human gene, WSTF, is deleted in Williams syndrome.
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| Lu X, et al.
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| Genomics 54 : 241-249. 1998
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| 82 | CLDN1, CLDN3, WBS
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| Genes for the CPE receptor (CPETR1) and the human homolog of RVP1 (CPETR2) are localized within the Williams-Beuren syndrome deletion.
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| Paperna T, Peoples R, Wang YK, Kaplan P, Francke U.
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| Genomics 54 : 453-459. 1998
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| 83 | WBS
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| Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
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| Bršndum-Nielsen K, et al.
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| Hum Genet 99 : 56-61. 1997
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| 84 | FZD9, WBS
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| A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
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| Wang YK, et al.
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| Hum Mol Genet 6 : 465-472. 1997
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| 85 | PSPH, WBS
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| Phosphoserine phosphatase deficiency in a patient with Williams syndrome.
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| Jaeken J, Detheux M, Fryns JP, Collet JF, Alliet P, Van Schaftingen E.
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| J Med Genet 34(7):594-6. 1997
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| 86 | STX1A, WBS
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| Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
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| Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC.
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| Am J Hum Genet 61(2):449-52. 1997
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| 87 | PMS2, PMS2L8, PMS2L11, PMS2LP1, PMS2LP2, WBS
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| PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7.
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| Osborne LR, Herbrick JA, Greavette T, Heng HH, Tsui LC, Scherer SW.
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| Genomics 45(2):402-6. 1997
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| 88 | RFC2, WBS
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| The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.
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| Peoples R, et al.
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| Am J Hum Genet 58 : 1370-1373. 1996
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| 89 | ELN, LIMK1, WBS
|
| LIM-kinase deleted in Williams syndrome.
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| Tassabehji M, et al.
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| Nat Genet 13 : 272-274. 1996
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| 90 | LIMK1, WBS
|
| LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.
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| Frangiskakis JM, et al.
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| Cell 86 : 59-69. 1996
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| 91 | CLIP2, EIF4H, ELN, GTF2IRD1, LAT2, LIMK1, RFC2, WBS, WBS, WBSCR2
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| Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.
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| Osborne LR, et al.
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| Genomics 36 : 328-336. 1996
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| 92 | WBS
|
| 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.
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| Urban Z, et al.
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| Am J Hum Genet 59 : 958-962. 1996
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| 93 | WBS
|
| Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
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| PŽrez Jurado LA, et al.
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| Am J Hum Genet 59 : 781-792. 1996
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| 94 | ELN, WBS
|
| Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.
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| Dutly F, et al.
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| Hum Mol Genet 5 : 1893-1898. 1996
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| 95 | WBS
|
| Williams-Beuren syndrome : phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
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| Joyce CA, et al.
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| J Med Genet 33 : 986-992. 1996
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| 96 | WBS
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| Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
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| Robinson WP, et al.
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| Genomics 34 : 17-23. 1996
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| 97 | D7S1870, D7S675, D7S663, WBS
|
| A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.
|
| Gilbert-Dussardier B, et al.
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| Am J Hum Genet 56 : 542-544. 1995
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| 98 | WBS
|
| Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.
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| Borg I, et al.
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| J Med Genet 32 : 692-696. 1995
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| 99 | ELN, WBS
|
| Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
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| Mari A, et al.
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| Hum Genet 96 : 444-448. 1995
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| 100 | ELN, WBS
|
| Deletions of the elastin gene at 7q11.23 occur in~90% of patients with Williams syndrome.
|
| Nickerson E, et al.
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| Am J Hum Genet 56 : 1156-1161. 1995
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| 101 | ELN, WBS
|
| Strong correlation of elastin deletions, detected by FISH, with Williams syndrome : evaluation of 235 patients.
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| Lowery MC, et al.
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| Am J Hum Genet 57 : 49-53. 1995
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| 102 | ELN, WBS
|
| Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
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| Kotzot D, et al.
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| Eur J Pediatr 154 : 477-482. 1995
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| 103 | ELN, WBS
|
| A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.
|
| Olson TM, et al.
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| Hum Mol Genet 4 : 1677-1679. 1995
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| 104 | ELN, WBS
|
| Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.
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| Ewart AK, et al.
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| J Clin Invest 93 : 1071-1077. 1994
|
| 105 | WBS
|
| Williams syndrome : autosomal dominant inheritance.
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| Morris CA, et al.
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| Am J Med Genet 47 : 478-481. 1993
|
| 106 | ELN, WBS
|
| The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis.
|
| Curran ME, et al.
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| Cell 73 : 159-168. 1993
|
| 107 | WBS
|
| A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
|
| Ewart AK, et al.
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| Proc Natl Acad Sci U S A 90 : 3226-3230. 1993
|
| 108 | WBS
|
| Autosomal dominant supravalvular aortic stenosis : localization to chromosome 7.
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| Olson TM, et al.
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| Hum Mol Genet 2 : 869-873. 1993
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| 109 | ELN, WBS
|
| Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
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| Ewart AK, et al.
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| Nat Genet 5 : 11-16. 1993
|
| 110 | WBS
|
| Supravalvular aortic stenosis is associated with mutations in the elastin gene.
|
| Morris CA, et al.
|
| Am J Hum Genet 53 : 212. 1993
|
| 111 | WBS
|
| A complex chromosome rearrangement with 10 breakpoints : tentative assignment of the locus for Williams syndrome to 4q33-q35.1.
|
| Tupler R, et al.
|
| J Med Genet 29 : 253-255. 1992
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| 112 | WBS
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| A terminal deletion of the long arm of chromosome 4, 46,XX,del(4)(q33), in an infant with phenotypic features of Williams syndrome.
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