304 related articles for article (PubMed ID: 26437767)
1. 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]
2. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C; Micale L; Augello B; Teresa Pellico M; Menghini D; Alfieri P; Cristina Digilio M; Mandriani B; Carella M; Palumbo O; Vicari S; Merla G
Eur J Hum Genet; 2014 Jan; 22(1):64-70. PubMed ID: 23756441
[TBL] [Abstract][Full Text] [Related]
3. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
Lugo M; Wong ZC; Billington CJ; Parrish PCR; Muldoon G; Liu D; Pober BR; Kozel BA
Am J Med Genet A; 2020 May; 182(5):1008-1020. PubMed ID: 32077592
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
Antonell A; Del Campo M; Magano LF; Kaufmann L; de la Iglesia JM; Gallastegui F; Flores R; Schweigmann U; Fauth C; Kotzot D; Pérez-Jurado LA
J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
[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. Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
Komoike Y; Fujii K; Nishimura A; Hiraki Y; Hayashidani M; Shimojima K; Nishizawa T; Higashi K; Yasukawa K; Saitsu H; Miyake N; Mizuguchi T; Matsumoto N; Osawa M; Kohno Y; Higashinakagawa T; Yamamoto T
Genesis; 2010 Apr; 48(4):233-43. PubMed ID: 20146355
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. [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]
10. 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]
11. 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]
12. Williams-Beuren syndrome: genes and mechanisms.
Francke U
Hum Mol Genet; 1999; 8(10):1947-54. PubMed ID: 10469848
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Ramocki MB; Bartnik M; Szafranski P; Kołodziejska KE; Xia Z; Bravo J; Miller GS; Rodriguez DL; Williams CA; Bader PI; Szczepanik E; Mazurczak T; Antczak-Marach D; Coldwell JG; Akman CI; McAlmon K; Cohen MP; McGrath J; Roeder E; Mueller J; Kang SH; Bacino CA; Patel A; Bocian E; Shaw CA; Cheung SW; Mazurczak T; Stankiewicz P
Am J Hum Genet; 2010 Dec; 87(6):857-65. PubMed ID: 21109226
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.
Okamoto N; Yamagata T; Yada Y; Ichihashi K; Matsumoto N; Momoi MY; Mizuguchi T
Brain Dev; 2014 Jun; 36(6):523-7. PubMed ID: 23899771
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
