151 related articles for article (PubMed ID: 36263864)
1. Mosaic Williams syndrome: A case report.
Kalantari S; Biagio MD; Valente EM; Rossi E; Sirchia F
Am J Med Genet A; 2023 Jan; 191(1):249-252. PubMed ID: 36263864
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
Hou JW; Wang JK; Wang TR
J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders.
Lühmann JL; Schmidt G; Auber B; Bergmann AK; Brandau O; Louis A; Hentze S; Eisfeld K; Schlegelberger B; Klaes R; Steinemann D
Am J Med Genet A; 2023 Jul; 191(7):1849-1857. PubMed ID: 37081310
[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. [Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
van Hagen JM; Govaerts LC; de Coo IF; Gille JJ; Nieuwint AW; Madan K
Ned Tijdschr Geneeskd; 2001 Mar; 145(9):396-400. PubMed ID: 11253493
[TBL] [Abstract][Full Text] [Related]
8. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
Wouters CH; Meijers-Heijboer HJ; Eussen BJ; van der Heide AA; van Luijk RB; van Drunen E; Beverloo BB; Visscher F; Van Hemel JO
Am J Med Genet; 2001 Aug; 102(3):261-5. PubMed ID: 11484204
[TBL] [Abstract][Full Text] [Related]
9. Molecular cytogenetic diagnosis of Williams syndrome.
Hirota H; Matsuoka R; Kimura M; Imamura S; Joh-o K; Ando M; Takao A; Momma K
Am J Med Genet; 1996 Aug; 64(3):473-7. PubMed ID: 8862624
[TBL] [Abstract][Full Text] [Related]
10. Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.
Serrano-Juárez CA; Venegas-Vega CA; Yáñez-Téllez MG; Rodríguez-Camacho M; Silva-Pereyra J; Salgado-Ceballos H; Prieto-Corona B
J Int Neuropsychol Soc; 2018 Oct; 24(9):896-904. PubMed ID: 30375319
[TBL] [Abstract][Full Text] [Related]
11. [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]
12. 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]
13. 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]
14. Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.
Lv X; Yang X; Li L; Yue F; Zhang H; Wang R
Medicine (Baltimore); 2023 Oct; 102(43):e34852. PubMed ID: 37904428
[TBL] [Abstract][Full Text] [Related]
15. [Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype].
Battin J; Lacombe D; Taine L; Goizet C
Bull Acad Natl Med; 2000; 184(1):105-15; discussion 115-6. PubMed ID: 10989534
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O
Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]