BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 18924166)

  • 1. Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
    Chen E; Obolensky E; Rauen KA; Shaffer LG; Li X
    Am J Med Genet A; 2008 Nov; 146A(21):2785-90. PubMed ID: 18924166
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Array-based comparative genomic hybridization facilitates identification of breakpoints of a novel der(1)t(1;18)(p36.3;q23)dn in a child presenting with mental retardation.
    Lennon PA; Cooper ML; Curtis MA; Lim C; Ou Z; Patel A; Cheung SW; Bacino CA
    Am J Med Genet A; 2006 Jun; 140(11):1156-63. PubMed ID: 16688748
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
    Callier P; Faivre L; Thauvin-Robinet C; Marle N; Mosca AL; D'Athis P; Guy J; Masurel-Paulet A; Joly L; Guiraud S; Teyssier JR; Huet F; Mugneret F
    Am J Med Genet A; 2008 Aug; 146A(16):2109-15. PubMed ID: 18629884
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
    Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
    J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Complex constitutional subtelomeric 1p36.3 deletion/duplication in a mentally retarded child with neonatal neuroblastoma.
    Isidor B; Le Cunff M; Boceno M; Boisseau P; Thomas C; Rival JM; David A; Le Caignec C
    Eur J Med Genet; 2008; 51(6):679-84. PubMed ID: 18672103
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.
    Aradhya S; Manning MA; Splendore A; Cherry AM
    Am J Med Genet A; 2007 Jul; 143A(13):1431-41. PubMed ID: 17568414
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
    Kurosawa K; Kawame H; Okamoto N; Ochiai Y; Akatsuka A; Kobayashi M; Shimohira M; Mizuno S; Wada K; Fukushima Y; Kawawaki H; Yamamoto T; Masuno M; Imaizumi K; Kuroki Y
    Brain Dev; 2005 Aug; 27(5):378-82. PubMed ID: 16023556
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family.
    Mohamed AM; Kamel A; Mahmoud W; Abdelraouf E; Meguid N
    Am J Med Genet A; 2015 Jan; 167A(1):128-36. PubMed ID: 25425358
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.
    Tyson C; McGillivray B; Chijiwa C; Rajcan-Separovic E
    Am J Med Genet A; 2004 Sep; 129A(3):254-60. PubMed ID: 15326624
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
    Yu W; Ballif BC; Kashork CD; Heilstedt HA; Howard LA; Cai WW; White LD; Liu W; Beaudet AL; Bejjani BA; Shaw CA; Shaffer LG
    Hum Mol Genet; 2003 Sep; 12(17):2145-52. PubMed ID: 12915473
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.
    Milosevic J; El Khattabi L; Roubergue A; Coussement A; Doummar D; Cuisset L; Le Tessier D; Flageul B; Viot G; Lebbar A; Dupont JM
    Am J Med Genet A; 2014 Dec; 164A(12):3180-6. PubMed ID: 25257167
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.
    Hayashi S; Kurosawa K; Imoto I; Mizutani S; Inazawa J
    Am J Med Genet A; 2005 Nov; 139(1):32-6. PubMed ID: 16222686
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
    Bursztejn AC; Bronner M; Peudenier S; Grégoire MJ; Jonveaux P; Nemos C
    Am J Med Genet A; 2009 Nov; 149A(11):2493-500. PubMed ID: 19842196
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC
    Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.
    Gamba BF; Richieri-Costa A; Costa S; Rosenberg C; Ribeiro-Bicudo LA
    Mol Genet Genomics; 2015 Dec; 290(6):2213-6. PubMed ID: 26040972
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
    Tzschach A; Menzel C; Erdogan F; Istifli ES; Rieger M; Ovens-Raeder A; Macke A; Ropers HH; Ullmann R; Kalscheuer V
    Am J Med Genet A; 2010 Apr; 152A(4):1008-12. PubMed ID: 20358617
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.
    Hulick PJ; Noonan KM; Kulkarni S; Donovan DJ; Listewnik M; Ihm C; Stoler JM; Weremowicz S
    Cytogenet Genome Res; 2009; 126(3):305-12. PubMed ID: 20068300
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 1p36 deletion syndrome associated with Prader-Willi-like phenotype.
    Tsuyusaki Y; Yoshihashi H; Furuya N; Adachi M; Osaka H; Yamamoto K; Kurosawa K
    Pediatr Int; 2010 Aug; 52(4):547-50. PubMed ID: 20113418
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.
    Chen CP; Lin SP; Chern SR; Kuo YL; Wu PS; Chen YT; Lee MS; Wang W
    Gene; 2014 Feb; 535(1):88-92. PubMed ID: 24279999
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.