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 *

276 related articles for article (PubMed ID: 15805155)

  • 1. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
    Kleefstra T; Smidt M; Banning MJ; Oudakker AR; Van Esch H; de Brouwer AP; Nillesen W; Sistermans EA; Hamel BC; de Bruijn D; Fryns JP; Yntema HG; Brunner HG; de Vries BB; van Bokhoven H
    J Med Genet; 2005 Apr; 42(4):299-306. PubMed ID: 15805155
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
    Kleefstra T; van Zelst-Stams WA; Nillesen WM; Cormier-Daire V; Houge G; Foulds N; van Dooren M; Willemsen MH; Pfundt R; Turner A; Wilson M; McGaughran J; Rauch A; Zenker M; Adam MP; Innes M; Davies C; López AG; Casalone R; Weber A; Brueton LA; Navarro AD; Bralo MP; Venselaar H; Stegmann SP; Yntema HG; van Bokhoven H; Brunner HG
    J Med Genet; 2009 Sep; 46(9):598-606. PubMed ID: 19264732
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
    Kleefstra T; Brunner HG; Amiel J; Oudakker AR; Nillesen WM; Magee A; Geneviève D; Cormier-Daire V; van Esch H; Fryns JP; Hamel BC; Sistermans EA; de Vries BB; van Bokhoven H
    Am J Hum Genet; 2006 Aug; 79(2):370-7. PubMed ID: 16826528
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The chromosome 9q subtelomere deletion syndrome.
    Stewart DR; Kleefstra T
    Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):383-92. PubMed ID: 17910072
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
    Busche A; Klopocki E; Ullmann R; Mundlos S; Horn D
    Eur J Med Genet; 2008; 51(6):615-21. PubMed ID: 18674647
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G
    Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
    Roselló M; Monfort S; Orellana C; Oltra S; Martínez Garay I; Martínez F
    Med Clin (Barc); 2007 Mar; 128(11):419-21. PubMed ID: 17394858
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
    Kleefstra T; Koolen DA; Nillesen WM; de Leeuw N; Hamel BC; Veltman JA; Sistermans EA; van Bokhoven H; van Ravenswaay C; de Vries BB
    Am J Med Genet A; 2006 Mar; 140(6):618-23. PubMed ID: 16470689
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W; Wauters J; Wojciechowski M; Reyniers E; Scheers S; van Luijk R; Rooms L; Kooy F; Wuyts W
    Clin Dysmorphol; 2007 Oct; 16(4):231-9. PubMed ID: 17786114
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
    Willemsen MH; Beunders G; Callaghan M; de Leeuw N; Nillesen WM; Yntema HG; van Hagen JM; Nieuwint AW; Morrison N; Keijzers-Vloet ST; Hoischen A; Brunner HG; Tolmie J; Kleefstra T
    Clin Genet; 2011 Jul; 80(1):31-8. PubMed ID: 21204793
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.
    Obregon MG; Mingarelli R; Digilio MC; Zelante L; Giannotti A; Sabatino G; Dallapiccola B
    Ann Genet; 1992; 35(4):208-12. PubMed ID: 1296516
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
    Schoumans J; Staaf J; Jönsson G; Rantala J; Zimmer KS; Borg A; Nordenskjöld M; Anderlid BM
    Eur J Med Genet; 2005; 48(3):290-300. PubMed ID: 16179224
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A; Rudnik-Schöneborn S; Eggermann K; Eggermann T; Senderek J; Schwanitz G; Zerres K; Schüler HM
    Eur J Med Genet; 2006; 49(6):505-10. PubMed ID: 16905374
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
    Kitsiou-Tzeli S; Sismani C; Ioannides M; Bashiardes S; Ketoni A; Touliatou V; Kolialexi A; Mavrou A; Kanavakis E; Patsalis PC
    Eur J Med Genet; 2007; 50(1):73-8. PubMed ID: 17194633
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
    Koolen DA; Reardon W; Rosser EM; Lacombe D; Hurst JA; Law CJ; Bongers EM; van Ravenswaaij-Arts CM; Leisink MA; van Kessel AG; Veltman JA; de Vries BB
    Eur J Hum Genet; 2005 Sep; 13(9):1019-24. PubMed ID: 15986041
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1).
    Kroepfl T; Petek E; Schwarzbraun T; Kroisel PM; Plecko B
    Clin Genet; 2008 May; 73(5):492-5. PubMed ID: 18341605
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
    Béri-Deixheimer M; Gregoire MJ; Toutain A; Brochet K; Briault S; Schaff JL; Leheup B; Jonveaux P
    Eur J Hum Genet; 2007 Apr; 15(4):446-52. PubMed ID: 17290276
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Chromosomal rearrangements in children with idiopathic mental retardation using subtelomeric fluorescent in situ hybridization.
    Cogulu O; Gunduz C; Karaca E; Onay H; Ozkinay C; Ozkinay F
    Genet Couns; 2006; 17(3):321-31. PubMed ID: 17100201
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.