338 related articles for article (PubMed ID: 23335707)
1. [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]
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. Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.
van Hagen JM; Eussen HJ; van Schooten R; van Der Geest JN; Lagers-van Haselen GC; Wouters CH; De Zeeuw CI; Gille JJ
Genet Test; 2007; 11(3):321-7. PubMed ID: 17949295
[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. 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]
6. 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]
7. 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]
8. [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]
9. 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]
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. [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]
12. 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]
13. 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]
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. [Genetic and prenatal diagnosis for four families with Williams-Beuren syndrome].
Liu Y; Xu ZY; Wu WQ; Luo FW; Xie JS
Zhongguo Dang Dai Er Ke Za Zhi; 2015 Dec; 17(12):1267-72. PubMed ID: 26695662
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome.
Pieles GE; Ofoe V; Morgan GJ
Congenit Heart Dis; 2014; 9(3):E85-9. PubMed ID: 23701710
[TBL] [Abstract][Full Text] [Related]
18. Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Ranaweera DM; Silva DC; Samarasinghe D; Perera S; Kugalingam N; Samarasinghe SR; Madushani WY; Jayaweera HHE; Gunewardene S; Muneeswaran K; Gnanam VS; Chandrasekharan NV
Clin Lab; 2024 Mar; 70(3):. PubMed ID: 38469782
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification].
Peng YY; Meng Y; Qiu ZQ; Wang O; Huang SZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):369-73. PubMed ID: 20017297
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
