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208 related items for 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 04; 15(1):79. PubMed ID: 35379245
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  • 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 04; 182(5):1008-1020. PubMed ID: 32077592
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  • 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 08; 90(6):1071-8. PubMed ID: 22608712
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  • 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 08; 18(1):33-8. PubMed ID: 19568270
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  • 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 08; 4(3):143-7. PubMed ID: 23653586
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  • 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 08; 185(1):242-249. PubMed ID: 33098373
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  • 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 08; 191(2):332-337. PubMed ID: 36308390
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  • 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 Feb 08; 159(4):182-189. PubMed ID: 31931504
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  • 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 13; 17():450. PubMed ID: 27295951
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  • 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 13; 63(12):104084. PubMed ID: 33045407
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  • 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 Dec 13; 7(10):e47457. PubMed ID: 23118870
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  • 16. [Atypical deletions in Williams-Beuren syndrome].
    Ramírez-Velazco A, Domínguez-Quezada MG.
    Rev Med Inst Mex Seguro Soc; 2017 Dec 13; 55(5):615-620. PubMed ID: 29193944
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  • 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 31; 14(1):121. PubMed ID: 31151468
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  • 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 31; 170A(1):148-55. PubMed ID: 26437767
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  • 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 31; 36(6):478-80. PubMed ID: 10874638
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  • 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 31; 6(5):749-765. PubMed ID: 30008175
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