BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

495 related articles for article (PubMed ID: 30342661)

  • 21. Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.
    Butler MG
    J Intellect Disabil Res; 2017 Jun; 61(6):568-579. PubMed ID: 28387067
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Prenatal diagnosis of maternal uniparental disomy 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
    Chen CP; Liou JD; Chern SR; Wu PS; Chen SW; Wu FT; Lee MS; Chen YY; Wang W
    Taiwan J Obstet Gynecol; 2022 Jan; 61(1):146-149. PubMed ID: 35181027
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families.
    Baldwin I; Shafer RL; Hossain WA; Gunewardena S; Veatch OJ; Mosconi MW; Butler MG
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33562221
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems.
    von der Lippe C; Rustad C; Heimdal K; Rødningen OK
    Eur J Med Genet; 2011; 54(3):357-60. PubMed ID: 21187176
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability.
    Chen CP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Yang CW; Wang W
    Taiwan J Obstet Gynecol; 2018 Aug; 57(4):578-582. PubMed ID: 30122582
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lee CC; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2020 Jan; 59(1):130-134. PubMed ID: 32039781
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.
    Farrell M; Lichtenstein M; Harner MK; Crowley JJ; Filmyer DM; Lázaro-Muñoz G; Dietterich TE; Bruno LM; Shaughnessy RA; Biondi TF; Burkholder S; Donmoyer J; Berg JS; Szatkiewicz J; Sullivan PF; Josiassen RC
    Transl Psychiatry; 2020 Jan; 10(1):42. PubMed ID: 32066678
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prenatal diagnosis of a 1.651-Mb 19q13.42-q13.43 microdeletion in a fetus with micrognathia and bilateral pyelectasis on prenatal ultrasound.
    Chen CP; Hsu CY; Chern SR; Wu PS; Chen SW; Wu FT; Wang W
    Taiwan J Obstet Gynecol; 2020 Sep; 59(5):763-765. PubMed ID: 32917333
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.
    Chen CP; Huang MC; Chern SR; Wu PS; Chen SW; Chuang TY; Town DD; Wang W
    Taiwan J Obstet Gynecol; 2019 Sep; 58(5):692-697. PubMed ID: 31542095
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1.
    Chen CP; Chen SW; Chern SR; Wu PS; Wu FT; Pan YT; Pan CW; Wang W
    Taiwan J Obstet Gynecol; 2022 Nov; 61(6):1044-1047. PubMed ID: 36427971
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
    Doornbos M; Sikkema-Raddatz B; Ruijvenkamp CA; Dijkhuizen T; Bijlsma EK; Gijsbers AC; Hilhorst-Hofstee Y; Hordijk R; Verbruggen KT; Kerstjens-Frederikse WS; van Essen T; Kok K; van Silfhout AT; Breuning M; van Ravenswaaij-Arts CM
    Eur J Med Genet; 2009; 52(2-3):108-15. PubMed ID: 19328872
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
    Picinelli C; Lintas C; Piras IS; Gabriele S; Sacco R; Brogna C; Persico AM
    Am J Med Genet B Neuropsychiatr Genet; 2016 Dec; 171(8):1088-1098. PubMed ID: 27566550
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome.
    Chen CP; Chen M; Wang LK; Chern SR; Wu PS; Ma GC; Chang SP; Chen SW; Wu FT; Lee CC; Chen YY; Wang W
    Taiwan J Obstet Gynecol; 2021 Mar; 60(2):345-349. PubMed ID: 33678340
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical features and magnesium levels: Novel insights in 15q11.2 BP1-BP2 copy number variants.
    Meossi C; Carrer A; Ciaccio C; Estienne M; Silipigni R; Sciacca FL; Pantaleoni C; D'Arrigo S; Milani D
    J Intellect Disabil Res; 2023 Jul; 67(7):679-689. PubMed ID: 37129092
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Pure partial monosomy 3p (3p25.3 → pter): prenatal diagnosis and array comparative genomic hybridization characterization.
    Chen CP; Su YN; Chen CY; Su JW; Chern SR; Town DD; Wang W
    Taiwan J Obstet Gynecol; 2012 Sep; 51(3):435-9. PubMed ID: 23040932
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.
    Han JY; Park J
    Diagnostics (Basel); 2021 Apr; 11(4):. PubMed ID: 33921555
    [TBL] [Abstract][Full Text] [Related]  

  • 37. The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
    Cox DM; Butler MG
    Int J Mol Sci; 2015 Feb; 16(2):4068-82. PubMed ID: 25689425
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism.
    Chen CP; Tsai C; Lin MH; Chern SR; Chen SW; Lai ST; Chen WL; Pan CW; Wang W
    Taiwan J Obstet Gynecol; 2017 Oct; 56(5):691-693. PubMed ID: 29037560
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.
    Maver A; Čuturilo G; Kovanda A; Miletić A; Peterlin B
    Eur J Med Genet; 2019 Dec; 62(12):103598. PubMed ID: 30543990
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mosaicism for a 15q11.2 microduplication with a normal euploid cell line at amniocentesis in a pregnancy with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with the microduplication.
    Chen CP; Wu FT; Pan YT; Wu PS; Wang W
    Taiwan J Obstet Gynecol; 2023 Jul; 62(4):602-605. PubMed ID: 37407204
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.