BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 12161608)

  • 1. Coffin-Lowry phenotype in a patient with a complex chromosome rearrangement.
    Concannon N; Hegarty AM; Stallings RL; Reardon W
    J Med Genet; 2002 Aug; 39(8):e41. PubMed ID: 12161608
    [No Abstract]   [Full Text] [Related]  

  • 2. Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy.
    Volleth M; Stumm M; Mohnike K; Kalscheuer VM; Jakubiczka S; Wieacker P
    Hum Hered; 2001; 52(3):177-82. PubMed ID: 11588402
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus.
    Tobias ES; Bryce G; Farmer G; Barton J; Colgan J; Morrison N; Cooke A; Tolmie JL
    J Med Genet; 2001 Jul; 38(7):466-70. PubMed ID: 11474655
    [No Abstract]   [Full Text] [Related]  

  • 4. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.
    Zeniou M; Pannetier S; Fryns JP; Hanauer A
    Am J Hum Genet; 2002 Jun; 70(6):1421-33. PubMed ID: 11992250
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Coffin-Lowry syndrome: a multicenter study.
    Gilgenkrantz S; Mujica P; Gruet P; Tridon P; Schweitzer F; Nivelon-Chevallier A; Nivelon JL; Couillault G; David A; Verloes A
    Clin Genet; 1988 Oct; 34(4):230-45. PubMed ID: 3069251
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Börjeson-Forssman-Lehmann syndrome].
    Fujieda K
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):147-9. PubMed ID: 11057174
    [No Abstract]   [Full Text] [Related]  

  • 7. A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.
    Partington MW; Mulley JC; Sutherland GR; Thode A; Turner G
    Am J Med Genet; 1988; 30(1-2):509-21. PubMed ID: 3177468
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
    Fink JM; Dobyns WB; Guerrini R; Hirsch BA
    Am J Hum Genet; 1997 Aug; 61(2):379-87. PubMed ID: 9311743
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Coffin-Lowry syndrome. A study of two new index patients and their families.
    Haspeslagh M; Fryns JP; Beusen L; Van Dessel F; Vinken L; Moens E; Van den Berghe H
    Eur J Pediatr; 1984 Dec; 143(2):82-6. PubMed ID: 6519116
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked mental retardation.
    Neri G; Chiurazzi P
    Adv Genet; 1999; 41():55-94. PubMed ID: 10494617
    [No Abstract]   [Full Text] [Related]  

  • 11. Autopsy findings in two adult siblings with Coffin-Lowry syndrome.
    Machin GA; Walther GL; Fraser VM
    Am J Med Genet Suppl; 1987; 3():303-9. PubMed ID: 3130866
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?
    Fichera M; Borgione E; Avola E; Amata S; Sturnio M; Romano C; Ragusa A
    J Med Genet; 2002 Apr; 39(4):276-80. PubMed ID: 11950858
    [No Abstract]   [Full Text] [Related]  

  • 13. Genes on the X chromosome are important in undiagnosed mental retardation.
    Partington M; Mowat D; Einfeld S; Tonge B; Turner G
    Am J Med Genet; 2000 May; 92(1):57-61. PubMed ID: 10797424
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Chromosome banding required for studies on X-linked mental retardation.
    Leversha MA; Webb GC; Pavey SM
    Lancet; 1981 Jan; 1(8210):49. PubMed ID: 6109088
    [No Abstract]   [Full Text] [Related]  

  • 15. "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
    Crow YJ; Zuberi SM; McWilliam R; Tolmie JL; Hollman A; Pohl K; Stephenson JB
    J Med Genet; 1998 Feb; 35(2):94-8. PubMed ID: 9507386
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Chromosome banding in X-linked mental retardation.
    Lancet; 1981 Feb; 1(8218):494. PubMed ID: 6110103
    [No Abstract]   [Full Text] [Related]  

  • 17. Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.
    May M; Colleaux L; Murgia A; Aylsworth A; Nussbaum R; Fontes M; Schwartz C
    Hum Mol Genet; 1995 Aug; 4(8):1465-6. PubMed ID: 7581391
    [No Abstract]   [Full Text] [Related]  

  • 18. Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.
    Manouvrier-Hanu S; Amiel J; Jacquot S; Merienne K; Moerman A; Coëslier A; Labarriere F; Vallée L; Croquette MF; Hanauer A
    J Med Genet; 1999 Oct; 36(10):775-8. PubMed ID: 10528858
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Syndromic XLMR genes (MRXS): update 2000.
    Hamel BC; Chiurazzi P; Lubs HA
    Am J Med Genet; 2000 Oct; 94(5):361-3. PubMed ID: 11050617
    [No Abstract]   [Full Text] [Related]  

  • 20. A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features.
    Barnes IC; Curtis D; Duncan SL
    J Med Genet; 1988 Apr; 25(4):264-7. PubMed ID: 3367354
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.