173 related articles for article (PubMed ID: 38363891)
1. Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature.
Yang R; Ai Y; Bai T; Lu XX; He G
Medicine (Baltimore); 2024 Feb; 103(7):e36976. PubMed ID: 38363891
[TBL] [Abstract][Full Text] [Related]
2. Williams-Beuren Syndrome and Burkitt Leukemia.
Zhukova N; Naqvi A
J Pediatr Hematol Oncol; 2013 Jan; 35(1):e30-2. PubMed ID: 23018576
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
Masson J; Demily C; Chatron N; Labalme A; Rollat-Farnier PA; Schluth-Bolard C; Gilbert-Dussardier B; Giuliano F; Touraine R; Tordjman S; Verloes A; Testa G; Sanlaville D; Edery P; Lesca G; Rossi M
Orphanet J Rare Dis; 2019 May; 14(1):121. PubMed ID: 31151468
[TBL] [Abstract][Full Text] [Related]
5. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Wojcik MH; Carmichael N; Bieber FR; Wiener DC; Madan R; Pober BR; Raby BA
Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
Tordjman S; Anderson GM; Botbol M; Toutain A; Sarda P; Carlier M; Saugier-Veber P; Baumann C; Cohen D; Lagneaux C; Tabet AC; Verloes A
PLoS One; 2012; 7(3):e30778. PubMed ID: 22412832
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Williams syndrome and mature B-Leukemia: A random association?
Decimi V; Fazio G; Dell'Acqua F; Maitz S; Galbiati M; Rizzari C; Biondi A; Cazzaniga G; Selicorni A
Eur J Med Genet; 2016 Dec; 59(12):634-640. PubMed ID: 27771473
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Growth assessment in children with Williams-Beuren syndrome: a systematic review.
de Sousa Lima Strafacci A; Fernandes Camargo J; Bertapelli F; Guerra Júnior G
J Appl Genet; 2020 May; 61(2):205-212. PubMed ID: 32157657
[TBL] [Abstract][Full Text] [Related]
14. Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M; Costa-Roger M; Pérez-García D; Flores R; Palacios-Verdú MG; Cusco I; Pérez-Jurado LA
J Med Genet; 2019 Dec; 56(12):801-808. PubMed ID: 31413120
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [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]
17. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Alesi V; Loddo S; Orlando V; Genovese S; Di Tommaso S; Liambo MT; Pompili D; Ferretti D; Calacci C; Catino G; Falasca R; Dentici ML; Novelli A; Digilio MC; Dallapiccola B
Am J Med Genet A; 2021 Jan; 185(1):242-249. PubMed ID: 33098373
[TBL] [Abstract][Full Text] [Related]
18. 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]
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. 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]
[Next] [New Search]
