BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

280 related articles for article (PubMed ID: 11238681)

  • 1. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
    Mainardi PC; Perfumo C; Calì A; Coucourde G; Pastore G; Cavani S; Zara F; Overhauser J; Pierluigi M; Bricarelli FD
    J Med Genet; 2001 Mar; 38(3):151-8. PubMed ID: 11238681
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
    Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
    Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.
    Murru D; Boccone L; Ristaldi MS; Nucaro AL
    Genet Couns; 2008; 19(4):381-6. PubMed ID: 19239081
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
    Zhang B; Willing M; Grange DK; Shinawi M; Manwaring L; Vineyard M; Kulkarni S; Cottrell CE
    Am J Med Genet A; 2016 Mar; 170(3):583-93. PubMed ID: 26601658
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).
    Levy B; Dunn TM; Kern JH; Hirschhorn K; Kardon NB
    Am J Med Genet; 2002 Mar; 108(3):192-7. PubMed ID: 11891684
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two cases of cri-du-chat syndrome with mild phenotypic effect but with different size of 5p deletion.
    Smith A; Field B; Murray R; Nelson J
    J Paediatr Child Health; 1990 Jun; 26(3):152-4. PubMed ID: 2206616
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.
    Sreekantaiah C; Kronn D; Marinescu RC; Goldin B; Overhauser J
    Am J Med Genet; 1999 Sep; 86(3):264-8. PubMed ID: 10482877
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.
    Elmakky A; Carli D; Lugli L; Torelli P; Guidi B; Falcinelli C; Fini S; Ferrari F; Percesepe A
    Eur J Med Genet; 2014 Mar; 57(4):145-50. PubMed ID: 24556499
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion.
    Fang JS; Lee KF; Huang CT; Syu CL; Yang KJ; Wang LH; Liao DL; Chen CH
    Clin Genet; 2008 Jun; 73(6):585-90. PubMed ID: 18400035
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
    Chehimi SN; Zanardo ÉA; Ceroni JRM; Nascimento AM; Madia FAR; Dias AT; Filho GMN; Montenegro MM; Damasceno J; Costa TVMM; Gasparini Y; Kim CA; Kulikowski LD
    Mol Genet Genomic Med; 2020 Feb; 8(2):e957. PubMed ID: 31568707
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
    Villa R; Fergnani VGC; Silipigni R; Guerneri S; Cinnante C; Guala A; Danesino C; Scola E; Conte G; Fumagalli M; Gangi S; Colombo L; Picciolini O; Ajmone PF; Accogli A; Madia F; Tassano E; Scala M; Capra V; Srour M; Spaccini L; Righini A; Greco D; Castiglia L; Romano C; Bedeschi MF
    Eur J Paediatr Neurol; 2020 Sep; 28():110-119. PubMed ID: 32800423
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The natural history of Cri du Chat Syndrome. A report from the Italian Register.
    Mainardi PC; Pastore G; Castronovo C; Godi M; Guala A; Tamiazzo S; Provera S; Pierluigi M; Bricarelli FD
    Eur J Med Genet; 2006; 49(5):363-83. PubMed ID: 16473053
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cri du Chat syndrome.
    Cerruti Mainardi P
    Orphanet J Rare Dis; 2006 Sep; 1():33. PubMed ID: 16953888
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Variability in a family with an insertion involving 5p.
    Marinescu RC; Mamunes P; Kline AD; Schmidt J; Rojas K; Overhauser J
    Am J Med Genet; 1999 Sep; 86(3):258-63. PubMed ID: 10482876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.
    Kondoh T; Shimokawa O; Harada N; Doi T; Yun C; Gohda Y; Kinoshita F; Matsumoto T; Moriuchi H
    J Hum Genet; 2005; 50(1):26-29. PubMed ID: 15602631
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inverted duplication with terminal deletion of 5p and no cat-like cry.
    Wang JC; Coe BP; Lomax B; MacLeod PM; Parslow MI; Schein JE; Lam WL; Eydoux P
    Am J Med Genet A; 2008 May; 146A(9):1173-9. PubMed ID: 18266247
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
    Gu H; Jiang JH; Li JY; Zhang YN; Dong XS; Huang YY; Son XM; Lu X; Chen Z
    PLoS One; 2013; 8(10):e76985. PubMed ID: 24143197
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.
    Zhang X; Snijders A; Segraves R; Zhang X; Niebuhr A; Albertson D; Yang H; Gray J; Niebuhr E; Bolund L; Pinkel D
    Am J Hum Genet; 2005 Feb; 76(2):312-26. PubMed ID: 15635506
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.
    Laczmanska I; Stembalska A; Gil J; Czemarmazowicz H; Sasiadek M
    Eur J Med Genet; 2006; 49(1):87-92. PubMed ID: 16473315
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5.
    Krgovic D; Blatnik A; Burmas A; Zagorac A; Kokalj Vokac N
    BMC Med Genet; 2014 Feb; 15():21. PubMed ID: 24517234
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.