BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 37510238)

  • 1. A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
    Vittas S; Bisba M; Christopoulou G; Apostolakopoulou L; Pons R; Constantoulakis P
    Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510238
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
    Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
    Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
    Hyon C; Marlin S; Chantot-Bastaraud S; Mabboux P; Beaujard MP; Al Ageeli E; Vazquez MP; Picard A; Siffroi JP; Portnoï MF
    Eur J Med Genet; 2011; 54(3):287-91. PubMed ID: 21195811
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience.
    Liang B; Yu D; Zhao W; Wang Y; Wu X; Chen L; Lin N; Huang H; Xu L
    BMC Med Genomics; 2022 Dec; 15(1):268. PubMed ID: 36544138
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
    Capra V; Mirabelli-Badenier M; Stagnaro M; Rossi A; Tassano E; Gimelli S; Gimelli G
    BMC Med Genet; 2012 Oct; 13():93. PubMed ID: 23035971
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
    Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
    J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
    Romano C; Ferranti S; Mencarelli MA; Longo I; Renieri A; Grosso S
    Neurol Sci; 2020 Aug; 41(8):2259-2262. PubMed ID: 32323081
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
    Nagamani SC; Zhang F; Shchelochkov OA; Bi W; Ou Z; Scaglia F; Probst FJ; Shinawi M; Eng C; Hunter JV; Sparagana S; Lagoe E; Fong CT; Pearson M; Doco-Fenzy M; Landais E; Mozelle M; Chinault AC; Patel A; Bacino CA; Sahoo T; Kang SH; Cheung SW; Lupski JR; Stankiewicz P
    J Med Genet; 2009 Dec; 46(12):825-33. PubMed ID: 19584063
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.
    Henry RK; Astbury C; Stratakis CA; Hickey SE
    Eur J Med Genet; 2016 Oct; 59(10):512-6. PubMed ID: 27633569
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.
    Roos L; Jønch AE; Kjaergaard S; Taudorf K; Simonsen H; Hamborg-Petersen B; Brøndum-Nielsen K; Kirchhoff M
    J Med Genet; 2009 Oct; 46(10):703-10. PubMed ID: 19520700
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
    Hadj Amor M; Dimassi S; Taj A; Slimani W; Hannachi H; Mlika A; Ben Helel K; Saad A; Mougou-Zerelli S
    BMC Med Genet; 2020 Feb; 21(1):26. PubMed ID: 32028920
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
    Blazejewski SM; Bennison SA; Smith TH; Toyo-Oka K
    Front Genet; 2018; 9():80. PubMed ID: 29628935
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
    Lin S; Luo Y; Wu J; Chen B; Ji Y; Zhou Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb; 34(1):89-92. PubMed ID: 28186603
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
    Baker EK; Brewer CJ; Ferreira L; Schapiro M; Tenney J; Wied HM; Kline-Fath BM; Smolarek TA; Weaver KN; Hopkin RJ
    Am J Med Genet A; 2023 Feb; 191(2):526-539. PubMed ID: 36433683
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay.
    Chen CP; Chang SY; Lin SP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Wang W
    Taiwan J Obstet Gynecol; 2018 Oct; 57(5):765-768. PubMed ID: 30342670
    [No Abstract]   [Full Text] [Related]  

  • 16. Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication.
    Yang YY; Liu CT; Pai LF; Hu CF; Chen SJ; Hsu WF
    Front Pediatr; 2022; 10():825298. PubMed ID: 35311053
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.
    Noor A; Bogatan S; Watkins N; Meschino WS; Stavropoulos DJ
    Clin Genet; 2018 Feb; 93(2):365-367. PubMed ID: 28542865
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.
    Kim YJ; Byun SY; Jo SA; Shin YB; Cho EH; Lee EY; Hwang SH
    Korean J Lab Med; 2011 Jan; 31(1):49-53. PubMed ID: 21239872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?
    Ho AC; Liu AP; Lun KS; Tang WF; Chan KY; Lau EY; Tang MH; Tan TY; Chung BH
    Eur J Med Genet; 2012 Dec; 55(12):758-62. PubMed ID: 23063769
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
    Mooneyham KA; Holden KR; Cathey S; Dwivedi A; Dupont BR; Lyons MJ
    Am J Med Genet A; 2014 Nov; 164A(11):2887-91. PubMed ID: 25123844
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.