249 related articles for article (PubMed ID: 21808859)
1. 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]
2. 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]
3. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
Dutra RL; Honjo RS; Kulikowski LD; Fonseca FM; Pieri PC; Jehee FS; Bertola DR; Kim CA
BMC Res Notes; 2012 Jan; 5():13. PubMed ID: 22226172
[TBL] [Abstract][Full Text] [Related]
4. Williams-Beuren syndrome: diagnosis by polymorphic markers.
Sbruzzi IC; Pereira AC; Vasconcelos B; Honjo RS; Krieger JE; Kim CA
Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
Milà M; Carrió A; Sánchez A; Gómez D; Jiménez D; Estivill X; Ballesta F
Med Clin (Barc); 1999 Jun; 113(2):46-9. PubMed ID: 10425618
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [Atypical deletions in Williams-Beuren syndrome].
Ramírez-Velazco A; Domínguez-Quezada MG
Rev Med Inst Mex Seguro Soc; 2017; 55(5):615-620. PubMed ID: 29193944
[TBL] [Abstract][Full Text] [Related]
9. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
[TBL] [Abstract][Full Text] [Related]
10. 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.
Robinson WP; Waslynka J; Bernasconi F; Wang M; Clark S; Kotzot D; Schinzel A
Genomics; 1996 May; 34(1):17-23. PubMed ID: 8661020
[TBL] [Abstract][Full Text] [Related]
11. The genomic basis of the Williams-Beuren syndrome.
Schubert C
Cell Mol Life Sci; 2009 Apr; 66(7):1178-97. PubMed ID: 19039520
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.
Pérez Jurado LA; Peoples R; Kaplan P; Hamel BC; Francke U
Am J Hum Genet; 1996 Oct; 59(4):781-92. PubMed ID: 8808592
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.
Brøndum-Nielsen K; Beck B; Gyftodimou J; Hørlyk H; Liljenberg U; Petersen MB; Pedersen W; Petersen MB; Sand A; Skovby F; Stafanger G; Zetterqvist P; Tommerup N
Hum Genet; 1997 Jan; 99(1):56-61. PubMed ID: 9003495
[TBL] [Abstract][Full Text] [Related]
17. Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
Viana MM; Frasson M; Galvão H; Leão LL; Stofanko M; Gonçalves-Dornelas H; da Silva Cunha P; Burle de Aguiar MJ
Ophthalmic Genet; 2015; 36(3):234-8. PubMed ID: 24417560
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
