339 related articles for article (PubMed ID: 26090456)
1. 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]
2. [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]
3. 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]
4. 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]
5. 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]
6. 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]
7. [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]
8. 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]
9. 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]
10. 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]
11. [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]
12. Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.
De Rubens Figueroa J; Rodríguez LM; Hach JL; Del Castillo Ruíz V; Martínez HO
Tex Heart Inst J; 2008; 35(3):279-85. PubMed ID: 18941598
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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
J Med Genet; 2010 Apr; 47(4):271-5. PubMed ID: 19752158
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.
Patil SJ; Madhusudhan BG; Shah S; Suresh PV
Am J Med Genet A; 2012 Jul; 158A(7):1729-34. PubMed ID: 22628065
[TBL] [Abstract][Full Text] [Related]
18. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
Ferrero GB; Biamino E; Sorasio L; Banaudi E; Peruzzi L; Forzano S; di Cantogno LV; Silengo MC
Eur J Med Genet; 2007; 50(5):327-37. PubMed ID: 17625998
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [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]
[Next] [New Search]
