319 related articles for article (PubMed ID: 26437767)
21. Familial Williams-Beuren syndrome showing varying clinical expression.
Pankau R; Siebert R; Kautza M; Schneppenheim R; Gosch A; Wessel A; Partsch CJ
Am J Med Genet; 2001 Feb; 98(4):324-9. PubMed ID: 11170076
[TBL] [Abstract][Full Text] [Related]
22. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Dutra RL; Pieri Pde C; Teixeira AC; Honjo RS; Bertola DR; Kim CA
Clinics (Sao Paulo); 2011; 66(6):959-64. PubMed ID: 21808859
[TBL] [Abstract][Full Text] [Related]
23. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
Hou JW; Wang JK; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
[TBL] [Abstract][Full Text] [Related]
24. [Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].
Wang SQ; Yang ZX; Li H
Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct; 49(5):899-903. PubMed ID: 29045977
[TBL] [Abstract][Full Text] [Related]
25. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
Sharma P; Gupta N; Chowdhury MR; Phadke SR; Sapra S; Halder A; Ghosh M; Kabra M
Cytogenet Genome Res; 2015; 146(3):187-94. PubMed ID: 26352091
[TBL] [Abstract][Full Text] [Related]
26. Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.
Popp B; Trollmann R; Büttner C; Caliebe A; Thiel CT; Hüffmeier U; Reis A; Zweier C
Eur J Med Genet; 2016 Oct; 59(10):549-53. PubMed ID: 27613244
[TBL] [Abstract][Full Text] [Related]
27. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.
Zhang L; Zhang X; You G; Yu Y; Fu Q
Clin Chim Acta; 2018 Jun; 481():171-176. PubMed ID: 29550276
[TBL] [Abstract][Full Text] [Related]
28. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Wojcik MH; Carmichael N; Bieber FR; Wiener DC; Madan R; Pober BR; Raby BA
Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
[TBL] [Abstract][Full Text] [Related]
29. 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(s).
Valero MC; de Luis O; Cruces J; Pérez Jurado LA
Genomics; 2000 Oct; 69(1):1-13. PubMed ID: 11013070
[TBL] [Abstract][Full Text] [Related]
30. 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; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
[TBL] [Abstract][Full Text] [Related]
31. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
Clin Genet; 2014 Nov; 86(5):487-91. PubMed ID: 24246242
[TBL] [Abstract][Full Text] [Related]
32. Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
Röthlisberger B; Hoigné I; Huber AR; Brunschwiler W; Capone Mori A
Am J Med Genet A; 2010 Feb; 152A(2):434-7. PubMed ID: 20101691
[TBL] [Abstract][Full Text] [Related]
33. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D
Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682
[TBL] [Abstract][Full Text] [Related]
34. 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; Pérez-Jurado L; Paperna T; Cisco M; Francke U
Am J Hum Genet; 2000 Jan; 66(1):47-68. PubMed ID: 10631136
[TBL] [Abstract][Full Text] [Related]
35. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
Masson J; Demily C; Chatron N; Labalme A; Rollat-Farnier PA; Schluth-Bolard C; Gilbert-Dussardier B; Giuliano F; Touraine R; Tordjman S; Verloes A; Testa G; Sanlaville D; Edery P; Lesca G; Rossi M
Orphanet J Rare Dis; 2019 May; 14(1):121. PubMed ID: 31151468
[TBL] [Abstract][Full Text] [Related]
36. Growth assessment in children with Williams-Beuren syndrome: a systematic review.
de Sousa Lima Strafacci A; Fernandes Camargo J; Bertapelli F; Guerra Júnior G
J Appl Genet; 2020 May; 61(2):205-212. PubMed ID: 32157657
[TBL] [Abstract][Full Text] [Related]
37. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
Kotzot D; Bernasconi F; Brecevic L; Robinson WP; Kiss P; Kosztolanyi G; Lurie IW; Superti-Furga A; Schinzel A
Eur J Pediatr; 1995 Jun; 154(6):477-82. PubMed ID: 7545578
[TBL] [Abstract][Full Text] [Related]
38. Epileptic Phenotype and Cannabidiol Efficacy in a Williams-Beuren Syndrome Patient With Atypical Deletion: A Case Report.
Nicotera AG; Spanò M; Decio A; Valentini G; Saia M; Di Rosa G
Front Neurol; 2021; 12():659543. PubMed ID: 34168609
[TBL] [Abstract][Full Text] [Related]
39. 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; 2008 Jul; 146A(14):1797-806. PubMed ID: 18553513
[TBL] [Abstract][Full Text] [Related]
40. Portal hypertension in Williams syndrome: report of two patients.
Casanelles Mdel C; Gil-Fernández JJ; Casero LF; Bengoechea MG; Serrano R; Rañada JM; Jurado LA
Am J Med Genet A; 2003 May; 118A(4):372-6. PubMed ID: 12687671
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
