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 *

165 related articles for article (PubMed ID: 30342670)

  • 1. 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]  

  • 2. 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]  

  • 3. Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
    Schiff M; Delahaye A; Andrieux J; Sanlaville D; Vincent-Delorme C; Aboura A; Benzacken B; Bouquillon S; Elmaleh-Berges M; Labalme A; Passemard S; Perrin L; Manouvrier-Hanu S; Edery P; Verloes A; Drunat S
    Eur J Med Genet; 2010; 53(5):303-8. PubMed ID: 20599530
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.
    Chen CP; Ko TM; Wang LK; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Lee CC; Wang W
    Taiwan J Obstet Gynecol; 2018 Feb; 57(1):128-132. PubMed ID: 29458882
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Genomic copy number variations at 17p13.3 and epileptogenesis.
    Shimojima K; Sugiura C; Takahashi H; Ikegami M; Takahashi Y; Ohno K; Matsuo M; Saito K; Yamamoto T
    Epilepsy Res; 2010 May; 89(2-3):303-9. PubMed ID: 20227246
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome].
    Duan F; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):71-73. PubMed ID: 33423263
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.
    Ueda H; Sugiura T; Takeshita S; Ito K; Kakita H; Nagasaki R; Kurosawa K; Saitoh S
    Eur J Pediatr; 2014 Nov; 173(11):1541-4. PubMed ID: 23933666
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].
    Laurito S; Goldschmidt E; Marquez M; Roque M
    Rev Neurol; 2011 Feb; 52(3):189-91. PubMed ID: 21287497
    [No Abstract]   [Full Text] [Related]  

  • 18. [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]  

  • 19. Chromosome 17p13.3 deletion syndrome: aCGH characterization, prenatal findings and diagnosis, and literature review.
    Chen CP; Chang TY; Guo WY; Wu PC; Wang LK; Chern SR; Wu PS; Su JW; Chen YT; Chen LF; Wang W
    Gene; 2013 Dec; 532(1):152-9. PubMed ID: 24055730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome.
    Czuchlewski DR; Andrews J; Madden R; Clericuzio CL; Zhang QY
    J Pediatr Hematol Oncol; 2008 Nov; 30(11):865-8. PubMed ID: 18989166
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.