These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 32290740)

  • 1. Lacrimal drainage system anomalies in Williams-Beuren syndrome.
    Ali MJ
    Orbit; 2021 Apr; 40(2):159-161. PubMed ID: 32290740
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. A new case of keratoconus associated with Williams-Beuren syndrome.
    Viana MM; Frasson M; Leão LL; Stofanko M; Gonçalves-Dornelas H; Cunha Pda S; de Aguiar MJ
    Ophthalmic Genet; 2013 Sep; 34(3):174-7. PubMed ID: 23167938
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
    Yau EK; Lo IF; Lam ST
    Hong Kong Med J; 2004 Feb; 10(1):22-7. PubMed ID: 14967851
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Diagnosis of a case with Williams-Beuren syndrome with nephrocalcinosis using chromosome microarray analysis].
    Jin SJ; Liu M; Long WJ; Luo XP
    Zhonghua Er Ke Za Zhi; 2016 Dec; 54(12):941-945. PubMed ID: 27938597
    [No 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. 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]  

  • 8. Ophthalmological manifestations in 6 patients diagnosed with Williams-Beuren syndrome and literature review.
    Calleja-García C; Muñoz-Gallego A; Dorado-López-Rosado A; López-López C; Tejada-Palacios P
    Arch Soc Esp Oftalmol (Engl Ed); 2022 May; 97(5):276-280. PubMed ID: 35292219
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
    Antonell A; Vilardell M; Pérez Jurado LA
    Hum Genet; 2010 Jul; 128(1):27-37. PubMed ID: 20401492
    [TBL] [Abstract][Full Text] [Related]  

  • 11. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
    Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
    Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Echocardiographic findings in patients with Williams-Beuren syndrome.
    Scheiber D; Fekete G; Urban Z; Tarjan I; Balaton G; Kosa L; Nagy K; Vajo Z
    Wien Klin Wochenschr; 2006 Sep; 118(17-18):538-42. PubMed ID: 17009066
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).
    Sugayama SM; Koch VH; Furusawa EA; Leone C; Kim CA
    Rev Hosp Clin Fac Med Sao Paulo; 2004 Oct; 59(5):266-72. PubMed ID: 15543398
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Williams-Beuren syndrome: an update and review for the primary physician.
    Lashkari A; Smith AK; Graham JM
    Clin Pediatr (Phila); 1999 Apr; 38(4):189-208. PubMed ID: 10326175
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent achalasia in a child with Williams-Beuren syndrome.
    Pereza N; Barbarić I; Ostojić S; Cace N; Kapović M
    Coll Antropol; 2011 Sep; 35(3):941-4. PubMed ID: 22053584
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.
    Abidi K; Jellouli M; Ben Rabeh R; Hammi Y; Gargah T
    Pan Afr Med J; 2015; 22():276. PubMed ID: 26958139
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. [Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].
    Li J; Du J; Fu H; Wang J; Yu Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):505-7. PubMed ID: 27455008
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Infantile ictal apneas in a child with williams-beuren syndrome.
    Myers KA; McLeod DR; Bello-Espinosa L
    Pediatr Neurol; 2013 Feb; 48(2):149-51. PubMed ID: 23337011
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.