BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 25876691)

  • 1. [Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family].
    Yu D; Li S; Jiang N
    Zhonghua Er Ke Za Zhi; 2015 Feb; 53(2):140-2. PubMed ID: 25876691
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
    Engels H; Wohlleber E; Zink A; Hoyer J; Ludwig KU; Brockschmidt FF; Wieczorek D; Moog U; Hellmann-Mersch B; Weber RG; Willatt L; Kreiss-Nachtsheim M; Firth HV; Rauch A
    Eur J Hum Genet; 2009 Dec; 17(12):1592-9. PubMed ID: 19471318
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
    Balasubramanian M; Smith K; Mordekar SR; Parker MJ
    Eur J Med Genet; 2011; 54(3):314-8. PubMed ID: 21315189
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Boy with seizures (West syndrome) and distal 7q duplication syndrome due to an unbalanced 7q;9p translocation.
    Tüysüz B; Demirel A; Uysal S; Beyer V; Bartsch O
    Genet Couns; 2008; 19(1):29-35. PubMed ID: 18564498
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum.
    Shimojima K; Okumura A; Mori H; Abe S; Ikeno M; Shimizu T; Yamamoto T
    Am J Med Genet A; 2012 Sep; 158A(9):2272-6. PubMed ID: 22848023
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Prenatal diagnosis of a case of Pallister-Killian syndrome].
    Xi H; Wang H; Jia Z; Zhou Y; Yu H; Liu J; Wu L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):73-6. PubMed ID: 25636105
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Prenatal genetic diagnosis for a fetus with atypical neurofibromatosis type 1 microdeletion].
    Lin S; Wu J; Zhang Z; Ji Y; Fang Q; Chen B; Luo Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):212-5. PubMed ID: 27060318
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].
    He W; Chen H; Mu H; Li J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):104-106. PubMed ID: 29419873
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.
    Tsao CY; Wenger GD; Bartholomew DW
    Am J Med Genet A; 2005 Apr; 134A(2):198-201. PubMed ID: 15690344
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
    Chen CP; Lin CJ; Chern SR; Liu YP; Kuo YL; Chen YN; Wu PS; Town DD; Chen LF; Yang CW; Wang W
    Taiwan J Obstet Gynecol; 2014 Dec; 53(4):583-7. PubMed ID: 25510705
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Improved identification for 5p deletion syndrome and partial trisomy 11q presented in a fetus by SNP array].
    Shi S; Pan G; Yang Y; Yan R; Li W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):195-9. PubMed ID: 27060314
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
    Zweier M; Gregor A; Zweier C; Engels H; Sticht H; Wohlleber E; Bijlsma EK; Holder SE; Zenker M; Rossier E; Grasshoff U; Johnson DS; Robertson L; Firth HV; ; Ekici AB; Reis A; Rauch A
    Hum Mutat; 2010 Jun; 31(6):722-33. PubMed ID: 20513142
    [TBL] [Abstract][Full Text] [Related]  

  • 14. MEF2C deletions and mutations versus duplications: a clinical comparison.
    Novara F; Rizzo A; Bedini G; Girgenti V; Esposito S; Pantaleoni C; Ciccone R; Sciacca FL; Achille V; Della Mina E; Gana S; Zuffardi O; Estienne M
    Eur J Med Genet; 2013 May; 56(5):260-5. PubMed ID: 23402836
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 17q21.31 microdeletion associated with infantile spasms.
    Wray CD
    Eur J Med Genet; 2013 Jan; 56(1):59-61. PubMed ID: 23123321
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome.
    Yang WX; Pan H; Wang ST; Li L; Wu HR; Qi Y
    Taiwan J Obstet Gynecol; 2016 Feb; 55(1):104-8. PubMed ID: 26927259
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
    Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
    Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].
    Zhuang J; Wang Y; Zeng S; Wang J; Jiang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1283-1286. PubMed ID: 33179241
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array].
    Jin Y; Liu X; Li S; Zhou C; Liu X; Song Q; Wang L; Miao Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):501-4. PubMed ID: 27455007
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality.
    Chen CP; Chern SR; Chen YN; Chen SW; Wu PS; Yang CW; Lee CC; Lee MS; Pan CW; Wang W
    Taiwan J Obstet Gynecol; 2017 Apr; 56(2):217-223. PubMed ID: 28420511
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.