212 related articles for article (PubMed ID: 35379245)
1. Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
Zhou J; Zheng Y; Liang G; Xu X; Liu J; Chen S; Ge T; Wen P; Zhang Y; Liu X; Zhuang J; Wu Y; Chen J
BMC Med Genomics; 2022 Apr; 15(1):79. PubMed ID: 35379245
[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. Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.
Serrano-Juárez CA; Prieto-Corona B; Rodríguez-Camacho M; Sandoval-Lira L; Villalva-Sánchez ÁF; Yáñez-Téllez MG; López MFR
Neuropsychol Rev; 2023 Dec; 33(4):891-911. PubMed ID: 36520254
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Vandeweyer G; Van der Aa N; Reyniers E; Kooy RF
Am J Hum Genet; 2012 Jun; 90(6):1071-8. PubMed ID: 22608712
[TBL] [Abstract][Full Text] [Related]
7. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G
Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
[TBL] [Abstract][Full Text] [Related]
8. A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.
Delgado LM; Gutierrez M; Augello B; Fusco C; Micale L; Merla G; Pastene EA
Mol Syndromol; 2013 Mar; 4(3):143-7. PubMed ID: 23653586
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
Cummings CT; Starr LJ
Am J Med Genet A; 2023 Feb; 191(2):332-337. PubMed ID: 36308390
[TBL] [Abstract][Full Text] [Related]
11. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
Sakurai T; Dorr NP; Takahashi N; McInnes LA; Elder GA; Buxbaum JD
Autism Res; 2011 Feb; 4(1):28-39. PubMed ID: 21328569
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.
Corley SM; Canales CP; Carmona-Mora P; Mendoza-Reinosa V; Beverdam A; Hardeman EC; Wilkins MR; Palmer SJ
BMC Genomics; 2016 Jun; 17():450. PubMed ID: 27295951
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
Porter MA; Dobson-Stone C; Kwok JB; Schofield PR; Beckett W; Tassabehji M
PLoS One; 2012; 7(10):e47457. PubMed ID: 23118870
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. 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]
18. 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]
19. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B
J Med Genet; 1999 Jun; 36(6):478-80. PubMed ID: 10874638
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
Kopp ND; Parrish PCR; Lugo M; Dougherty JD; Kozel BA
Mol Genet Genomic Med; 2018 Sep; 6(5):749-765. PubMed ID: 30008175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
