266 related articles for article (PubMed ID: 32219841)
1. [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]
2. 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]
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. 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]
5. 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]
6. [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]
7. Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.
Honjo RS; Dutra RL; Nunes MM; Gomy I; Kulikowski LD; Jehee FS; Kim CA
J Genet Genomics; 2012 Oct; 39(10):571-4. PubMed ID: 23089367
[No Abstract] [Full Text] [Related]
8. A novel 2.43 Mb deletion of 7q11.22-q11.23.
Blyth M; Beal S; Huang S; Crolla J; Foulds N
Am J Med Genet A; 2008 Dec; 146A(24):3206-10. PubMed ID: 19012340
[TBL] [Abstract][Full Text] [Related]
9. [Genotype and phenotype analysis of two patients with Williams syndrome].
Zhu H; Ji C; Zhang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):68-70. PubMed ID: 26829738
[TBL] [Abstract][Full Text] [Related]
10. Elastin mutation screening in a group of patients affected by vascular abnormalities.
Rodriguez-Revenga L; Badenas C; Carrió A; Milà M
Pediatr Cardiol; 2005; 26(6):827-31. PubMed ID: 15990952
[TBL] [Abstract][Full Text] [Related]
11. [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]
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. [Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].
Jin Y; Liu X; Li S; Ge J; Wu X; Song Q; Zhou C; Miao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):529-32. PubMed ID: 26252101
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
Guenat D; Quentin S; Rizzari C; Lundin C; Coliva T; Edery P; Fryssira H; Bermont L; Ferrand C; Soulier J; Borg C; Rohrlich PS
J Hematol Oncol; 2014 Nov; 7():82. PubMed ID: 25388916
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Scherer SW; Gripp KW; Lucena J; Nicholson L; Bonnefont JP; Pérez-Jurado LA; Osborne LR
Hum Genet; 2005 Aug; 117(4):383-8. PubMed ID: 15933846
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
