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 *

313 related articles for article (PubMed ID: 16906164)

  • 1. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
    Koolen DA; Vissers LE; Pfundt R; de Leeuw N; Knight SJ; Regan R; Kooy RF; Reyniers E; Romano C; Fichera M; Schinzel A; Baumer A; Anderlid BM; Schoumans J; Knoers NV; van Kessel AG; Sistermans EA; Veltman JA; Brunner HG; de Vries BB
    Nat Genet; 2006 Sep; 38(9):999-1001. PubMed ID: 16906164
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
    Koolen DA; Sharp AJ; Hurst JA; Firth HV; Knight SJ; Goldenberg A; Saugier-Veber P; Pfundt R; Vissers LE; Destrée A; Grisart B; Rooms L; Van der Aa N; Field M; Hackett A; Bell K; Nowaczyk MJ; Mancini GM; Poddighe PJ; Schwartz CE; Rossi E; De Gregori M; Antonacci-Fulton LL; McLellan MD; Garrett JM; Wiechert MA; Miner TL; Crosby S; Ciccone R; Willatt L; Rauch A; Zenker M; Aradhya S; Manning MA; Strom TM; Wagenstaller J; Krepischi-Santos AC; Vianna-Morgante AM; Rosenberg C; Price SM; Stewart H; Shaw-Smith C; Brunner HG; Wilkie AO; Veltman JA; Zuffardi O; Eichler EE; de Vries BB
    J Med Genet; 2008 Nov; 45(11):710-20. PubMed ID: 18628315
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
    Shaw-Smith C; Pittman AM; Willatt L; Martin H; Rickman L; Gribble S; Curley R; Cumming S; Dunn C; Kalaitzopoulos D; Porter K; Prigmore E; Krepischi-Santos AC; Varela MC; Koiffmann CP; Lees AJ; Rosenberg C; Firth HV; de Silva R; Carter NP
    Nat Genet; 2006 Sep; 38(9):1032-7. PubMed ID: 16906163
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
    Dubourg C; Sanlaville D; Doco-Fenzy M; Le Caignec C; Missirian C; Jaillard S; Schluth-Bolard C; Landais E; Boute O; Philip N; Toutain A; David A; Edery P; Moncla A; Martin-Coignard D; Vincent-Delorme C; Mortemousque I; Duban-Bedu B; Drunat S; Beri M; Mosser J; Odent S; David V; Andrieux J
    Eur J Med Genet; 2011; 54(2):144-51. PubMed ID: 21094706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.
    Rao PN; Li W; Vissers LE; Veltman JA; Ophoff RA
    Cytogenet Genome Res; 2010; 129(4):275-9. PubMed ID: 20606400
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype.
    Sharkey FH; Morrison N; Murray R; Iremonger J; Stephen J; Maher E; Tolmie J; Jackson AP
    Cytogenet Genome Res; 2009; 127(1):61-6. PubMed ID: 20110647
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
    Bernardo P; Madia F; Santulli L; Del Gaudio L; Caccavale C; Zara F; Traverso M; Cirillo M; Striano S; Coppola A
    Brain Dev; 2016 Aug; 38(7):663-8. PubMed ID: 26897099
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
    Koolen DA; Dupont J; de Leeuw N; Vissers LE; van den Heuvel SP; Bradbury A; Steer J; de Brouwer AP; Ten Kate LP; Nillesen WM; de Vries BB; Parker MJ
    Eur J Hum Genet; 2012 Jul; 20(7):729-33. PubMed ID: 22293690
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.
    de Jong S; Chepelev I; Janson E; Strengman E; van den Berg LH; Veldink JH; Ophoff RA
    BMC Genomics; 2012 Sep; 13():458. PubMed ID: 22950410
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Monozygotic twins with 17q21.31 microdeletion syndrome.
    Vlckova M; Hancarova M; Drabova J; Slamova Z; Koudova M; Alanova R; Mannik K; Kurg A; Sedlacek Z
    Twin Res Hum Genet; 2014 Oct; 17(5):405-10. PubMed ID: 24909117
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.
    Gregor A; Krumbiegel M; Kraus C; Reis A; Zweier C
    Am J Med Genet A; 2012 Jul; 158A(7):1765-70. PubMed ID: 22678764
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.
    Kirchhoff M; Bisgaard AM; Duno M; Hansen FJ; Schwartz M
    Eur J Med Genet; 2007; 50(4):256-63. PubMed ID: 17576104
    [TBL] [Abstract][Full Text] [Related]  

  • 13. KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
    Moreno-Igoa M; Hernández-Charro B; Bengoa-Alonso A; Pérez-Juana-del-Casal A; Romero-Ibarra C; Nieva-Echebarria B; Ramos-Arroyo MA
    BMC Med Genet; 2015 Aug; 16():68. PubMed ID: 26293599
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
    Varela MC; Krepischi-Santos AC; Paz JA; Knijnenburg J; Szuhai K; Rosenberg C; Koiffmann CP
    Cytogenet Genome Res; 2006; 114(1):89-92. PubMed ID: 16717456
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetics. 17q21.31: not your average genomic address.
    Pennisi E
    Science; 2008 Nov; 322(5903):842-5. PubMed ID: 18988819
    [No Abstract]   [Full Text] [Related]  

  • 16. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M; Orteschi D; Murdolo M; Lattante S; Battaglia D; Stefanini C; Mercuri E; Chiurazzi P; Neri G; Marangi G
    Nat Genet; 2012 Apr; 44(6):636-8. PubMed ID: 22544367
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
    Krepischi-Santos AC; Rajan D; Temple IK; Shrubb V; Crolla JA; Huang S; Beal S; Otto PA; Carter NP; Vianna-Morgante AM; Rosenberg C
    Cytogenet Genome Res; 2009; 125(1):1-7. PubMed ID: 19617690
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.
    Uctepe E; Aktas D; Alikasifoglu M; Gunduz E; Sonmez FM
    Genet Couns; 2016; 27(3):357-365. PubMed ID: 30204964
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
    Terrone G; D'Amico A; Imperati F; Carella M; Palumbo O; Gentile M; Canani RB; Melis D; Romano A; Parente I; Riccitelli M; Del Giudice E
    Eur J Med Genet; 2012; 55(8-9):466-71. PubMed ID: 22659270
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.