BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 32077592)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
    Sharma P; Gupta N; Chowdhury MR; Phadke SR; Sapra S; Halder A; Ghosh M; Kabra M
    Cytogenet Genome Res; 2015; 146(3):187-94. PubMed ID: 26352091
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Williams-Beuren syndrome: genes and mechanisms.
    Francke U
    Hum Mol Genet; 1999; 8(10):1947-54. PubMed ID: 10469848
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 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]
    of 12.