308 related articles for article (PubMed ID: 26352091)
1. 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]
2. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
Biomed Res Int; 2015; 2015():903175. PubMed ID: 26090456
[TBL] [Abstract][Full Text] [Related]
3. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
4. [Detection of a Williams Beuren syndrome case by MLPA].
Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
[TBL] [Abstract][Full Text] [Related]
5. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
[TBL] [Abstract][Full Text] [Related]
6. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
Lugo M; Wong ZC; Billington CJ; Parrish PCR; Muldoon G; Liu D; Pober BR; Kozel BA
Am J Med Genet A; 2020 May; 182(5):1008-1020. PubMed ID: 32077592
[TBL] [Abstract][Full Text] [Related]
10. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
[TBL] [Abstract][Full Text] [Related]
13. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
Xia Y; Huang S; Wu Y; Yang Y; Chen S; Li P; Zhuang J
Mol Genet Genomic Med; 2019 Feb; 7(2):e00517. PubMed ID: 30565396
[TBL] [Abstract][Full Text] [Related]
14. 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.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
15. Chromosomal instability at the 7q11.23 region impacts on DNA-damage response in lymphocytes from Williams-Beuren syndrome patients.
Savina NV; Smal MP; Kuzhir TD; Egorova TM; Khurs OM; Polityko AD; Goncharova RI
Mutat Res; 2011 Sep; 724(1-2):46-51. PubMed ID: 21645633
[TBL] [Abstract][Full Text] [Related]
16. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
Schubert C; Laccone F
Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
[TBL] [Abstract][Full Text] [Related]
17. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Plaja A; Castells N; Cueto-González AM; del Campo M; Vendrell T; Lloveras E; Izquierdo L; Borregan M; Rodríguez-Santiago B; Carrió A; Miró R; Tizzano E
Cytogenet Genome Res; 2015; 146(3):181-6. PubMed ID: 26382598
[TBL] [Abstract][Full Text] [Related]
18. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
Wu D; Zhang M; Gao Y; Huo X; Xiao H; Zhang Q; Kang B; Wang X; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):475-478. PubMed ID: 32219841
[TBL] [Abstract][Full Text] [Related]
19. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
Hou JW; Wang JK; Wang TR
J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
