257 related articles for article (PubMed ID: 22412832)
1. 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]
2. 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]
3. Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study.
Alfieri P; Scibelli F; Digilio MC; Novello RL; Caciolo C; Valeri G; Vicari S
Autism Res; 2021 Apr; 14(4):748-758. PubMed ID: 33314766
[TBL] [Abstract][Full Text] [Related]
4. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Berg JS; Brunetti-Pierri N; Peters SU; Kang SH; Fong CT; Salamone J; Freedenberg D; Hannig VL; Prock LA; Miller DT; Raffalli P; Harris DJ; Erickson RP; Cunniff C; Clark GD; Blazo MA; Peiffer DA; Gunderson KL; Sahoo T; Patel A; Lupski JR; Beaudet AL; Cheung SW
Genet Med; 2007 Jul; 9(7):427-41. PubMed ID: 17666889
[TBL] [Abstract][Full Text] [Related]
5. Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.
Tordjman S; Anderson GM; Cohen D; Kermarrec S; Carlier M; Touitou Y; Saugier-Veber P; Lagneaux C; Chevreuil C; Verloes A
Mol Autism; 2013 Aug; 4(1):29. PubMed ID: 23972161
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
Edelmann L; Prosnitz A; Pardo S; Bhatt J; Cohen N; Lauriat T; Ouchanov L; González PJ; Manghi ER; Bondy P; Esquivel M; Monge S; Delgado MF; Splendore A; Francke U; Burton BK; McInnes LA
J Med Genet; 2007 Feb; 44(2):136-43. PubMed ID: 16971481
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome.
Teixeira MC; Monteiro CR; Velloso Rde L; Kim CA; Carreiro LR
Pro Fono; 2010; 22(3):215-20. PubMed ID: 21103708
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. [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]
14. Autism and Williams syndrome: a case report.
Herguner S; Mukaddes NM
World J Biol Psychiatry; 2006; 7(3):186-8. PubMed ID: 16861145
[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 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]
17. 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]
18. 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]
19. [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]
20. 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]
[Next] [New Search]
