BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 1133653)

  • 1. The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome.
    Temtamy SA; Miller JD; Hussels-Maumenee I
    J Pediatr; 1975 May; 86(5):724-31. PubMed ID: 1133653
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.
    Temtamy SA; Miller JD; Dorst JP; Hussels-Maumenee I; Salinas C; Lacassie Y; Kenyon KR
    Birth Defects Orig Artic Ser; 1975; 11(6):133-52. PubMed ID: 1201338
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. The association between Coffin-Lowry syndrome and psychosis: a family study.
    Sivagamasundari U; Fernando H; Jardine P; Rao JM; Lunt P; Jayewardene SL
    J Intellect Disabil Res; 1994 Oct; 38 ( Pt 5)():469-73. PubMed ID: 7841685
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Coffin-Lowry syndrome. Experience from four centres.
    Hunter AG; Partington MW; Evans JA
    Clin Genet; 1982 May; 21(5):321-35. PubMed ID: 7116677
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome).
    Cantwell RJ
    Humangenetik; 1975; 26(3):261-5. PubMed ID: 1132883
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Coffin-Lowry syndrome: clinical and molecular features.
    Hanauer A; Young ID
    J Med Genet; 2002 Oct; 39(10):705-13. PubMed ID: 12362025
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Miyatake S; Okamoto N; Stark Z; Nabetani M; Tsurusaki Y; Nakashima M; Miyake N; Mizuguchi T; Ohtake A; Saitsu H; Matsumoto N
    J Hum Genet; 2017 Aug; 62(8):741-746. PubMed ID: 28250421
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Fatal cardiac complications in a child operated on for severe scoliosis with a Coffin-Lowry syndrome. Apropos of a case].
    Charles S; Passuti N; Rogez JM; David A
    Chir Pediatr; 1988; 29(1):36-8. PubMed ID: 3396137
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.
    Hanauer A; Alembik Y; Gilgenkrantz S; Mujica P; Nivelon-Chevallier A; Pembrey ME; Young ID; Mandel JL
    Am J Med Genet; 1988; 30(1-2):523-30. PubMed ID: 3177469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Coffin-Lowry syndrome and schizophrenia: a family report.
    Collacott RA; Warrington JS; Young ID
    J Ment Defic Res; 1987 Jun; 31 ( Pt 2)():199-207. PubMed ID: 3625766
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.
    Kaname T; Yanagi K
    J Hum Genet; 2017 Aug; 62(8):739-740. PubMed ID: 28566769
    [No Abstract]   [Full Text] [Related]  

  • 14. A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
    Spiegel R; Horovitz Y; Peters H; Erdogan F; Chervinsky I; Shalev SA
    Am J Med Genet A; 2009 Dec; 149A(12):2655-60. PubMed ID: 19938075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Greig cephalopolysyndactyly: report of 13 affected individuals in three families.
    Baraitser M; Winter RM; Brett EM
    Clin Genet; 1983 Oct; 24(4):257-65. PubMed ID: 6641002
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [A dominant syndrome associated with polysyndactyly, spatule thumb, facial abnormalities, and mental retardation. (A particular form of Noack's acrocephalosyndactylia)].
    Gnamey D; Farriaux JP
    J Genet Hum; 1971 Dec; 19(4):299-316. PubMed ID: 5152131
    [No Abstract]   [Full Text] [Related]  

  • 17. Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers.
    Plomp AS; De Die-Smulders CE; Meinecke P; Ypma-Verhulst JM; Lissone DA; Fryns JP
    Genet Couns; 1995; 6(3):259-68. PubMed ID: 8588856
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities.
    Battaglia A; Ferrari AR; Orsitto E; Gibilisco G; Neri G
    Clin Dysmorphol; 1996 Jan; 5(1):41-7. PubMed ID: 8867658
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The inheritance of the Aarskog facial-digital-genital syndrome.
    Berman P; Desjardins C; Fraser FC
    J Pediatr; 1975 Jun; 86(6):885-91. PubMed ID: 1127528
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
    Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.