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 *

139 related articles for article (PubMed ID: 21042007)

  • 21. Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
    Rooryck C; VuPhi Y; Souakri N; Burgelin I; Saura R; Lacombe D; Arveiler B; Taine L
    Eur J Med Genet; 2010; 53(2):104-7. PubMed ID: 20132917
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel chromosomal translocation t(1;14)(q25;q32) in pre-B acute lymphoblastic leukemia involves the LIM homeodomain protein gene, Lhx4.
    Kawamata N; Sakajiri S; Sugimoto KJ; Isobe Y; Kobayashi H; Oshimi K
    Oncogene; 2002 Jul; 21(32):4983-91. PubMed ID: 12118377
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Balanced reciprocal translocation mosaicism associated with an abnormal phenotype.
    Aughton DJ; AlSaadi AA; Canady AI; Lucas BM
    Am J Med Genet; 1993 Mar; 45(6):721-4. PubMed ID: 8456851
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Characterization of the t(17;19) translocation by gene-specific fluorescent in situ hybridization-based cytogenetics and detection of the E2A-HLF fusion transcript and protein in patients' cells.
    Yeung J; Kempski H; Neat M; Bailey S; Smith O; Brady HJ
    Haematologica; 2006 Mar; 91(3):422-4. PubMed ID: 16531271
    [TBL] [Abstract][Full Text] [Related]  

  • 25. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.
    Schuffenhauer S; Leifheit HJ; Lichtner P; Peters H; Murken J; Emmerich P
    J Med Genet; 1999 Mar; 36(3):233-6. PubMed ID: 10204852
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
    Nishimura DY; Swiderski RE; Alward WL; Searby CC; Patil SR; Bennet SR; Kanis AB; Gastier JM; Stone EM; Sheffield VC
    Nat Genet; 1998 Jun; 19(2):140-7. PubMed ID: 9620769
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
    Gijsbers AC; Bosch CA; Dauwerse JG; Giromus O; Hansson K; Hilhorst-Hofstee Y; Kriek M; van Haeringen A; Bijlsma EK; Bakker E; Breuning MH; Ruivenkamp CA
    Eur J Med Genet; 2010; 53(5):227-33. PubMed ID: 20542150
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Characterization of t(3;6)(q27;p21) breakpoints in B-cell non-Hodgkin's lymphoma and construction of the histone H4/BCL6 fusion gene, leading to altered expression of Bcl-6.
    Kurata M; Maesako Y; Ueda C; Nishikori M; Akasaka T; Uchiyama T; Ohno H
    Cancer Res; 2002 Nov; 62(21):6224-30. PubMed ID: 12414651
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization.
    Engelen JJ; Loots WJ; Albrechts JC; Plomp AS; van der Meer SB; Vles JS; Hamers GJ; Geraedts JP
    Am J Med Genet; 1998 Feb; 75(4):409-13. PubMed ID: 9482648
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with T-cell acute lymphoblastic leukemia.
    Mikhail FM; Coignet L; Hatem N; Mourad ZI; Farawela HM; El Kaffash DM; Farahat N; Nucifora G
    Genes Chromosomes Cancer; 2004 Feb; 39(2):110-8. PubMed ID: 14695990
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).
    Makita Y; Masuno M; Imaizumi K; Yamashita S; Ohba S; Ito D; Kuroki Y
    Am J Med Genet; 1995 May; 57(1):19-21. PubMed ID: 7645592
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.
    Odero MD; Vizmanos JL; Román JP; Lahortiga I; Panizo C; Calasanz MJ; Zeleznik-Le NJ; Rowley JD; Novo FJ
    Genes Chromosomes Cancer; 2002 Sep; 35(1):11-9. PubMed ID: 12203785
    [TBL] [Abstract][Full Text] [Related]  

  • 33. PPP2R2C, a gene disrupted in autosomal dominant intellectual disability.
    Backx L; Vermeesch J; Pijkels E; de Ravel T; Seuntjens E; Van Esch H
    Eur J Med Genet; 2010; 53(5):239-43. PubMed ID: 20601260
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Establishment and characterization of a renal cell carcinoma cell line (FU-UR-1) with the reciprocal ASPL-TFE3 fusion transcript.
    Ishiguro M; Iwasaki H; Ohjimi Y; Kaneko Y
    Oncol Rep; 2004 Jun; 11(6):1169-75. PubMed ID: 15138551
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
    Córdova-Fletes C; Domínguez MG; Delint-Ramirez I; Martínez-Rodríguez HG; Rivas-Estilla AM; Barros-Núñez P; Ortiz-López R; Neira VA
    Neurogenetics; 2015 Oct; 16(4):287-98. PubMed ID: 26163108
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
    Shoichet SA; Kunde SA; Viertel P; Schell-Apacik C; von Voss H; Tommerup N; Ropers HH; Kalscheuer VM
    Hum Genet; 2005 Oct; 117(6):536-44. PubMed ID: 16133170
    [TBL] [Abstract][Full Text] [Related]  

  • 37. ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.
    Cosemans N; Vandenhove L; Maljaars J; Van Esch H; Devriendt K; Baldwin A; Fryns JP; Noens I; Peeters H
    Eur J Med Genet; 2018 Jul; 61(7):376-383. PubMed ID: 29427787
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism.
    Ren CM; Liang Y; Wei F; Zhang YN; Zhong SQ; Gu H; Dong XS; Huang YY; Ke H; Son XM; Tang D; Chen Z
    Biochim Biophys Acta; 2013 Mar; 1832(3):431-8. PubMed ID: 23195952
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
    Schneider A; Puechberty J; Ng BL; Coubes C; Gatinois V; Tournaire M; Girard M; Dumont B; Bouret P; Magnetto J; Baghdadli A; Pellestor F; Geneviève D
    Am J Med Genet A; 2015 Dec; 167A(12):3031-7. PubMed ID: 26333717
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.
    Tagariello A; Heller R; Greven A; Kalscheuer VM; Molter T; Rauch A; Kress W; Winterpacht A
    J Med Genet; 2006 Jun; 43(6):534-40. PubMed ID: 16258006
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.