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Journal Abstract Search

162 related items for PubMed ID: 7282775

  • 1. Brief clinical report: early recognition of the Coffin-Lowry syndrome.
    Wilson WG, Kelly TE.
    Am J Med Genet; 1981; 8(2):215-20. PubMed ID: 7282775
    [Abstract] [Full Text] [Related]

  • 2. Early clinical signs in Coffin-Lowry syndrome.
    Vles JS, Haspeslagh M, Raes MM, Fryns JP, Casaer P, Eggermont E.
    Clin Genet; 1984 Nov; 26(5):448-52. PubMed ID: 6541982
    [Abstract] [Full Text] [Related]

  • 3. [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 Nov; 29(1):36-8. PubMed ID: 3396137
    [Abstract] [Full Text] [Related]

  • 4. The radiology of Coffin-Lowry syndrome.
    Padley S, Hodgson SV, Sherwood T.
    Br J Radiol; 1990 Jan; 63(745):72-5. PubMed ID: 2306591
    [No Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 Jun; 6(3):259-68. PubMed ID: 8588856
    [Abstract] [Full Text] [Related]

  • 7. 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 Jun; 11(6):133-52. PubMed ID: 1201338
    [No Abstract] [Full Text] [Related]

  • 8. [Coffin-Lowry syndrome and hyperprolinemia].
    Lacombe D, Parrot-Roulaud F, Castell JF, Serville F, Hehunstre JP, Battin J.
    Arch Fr Pediatr; 1993 Jun; 50(6):489-92. PubMed ID: 8135609
    [Abstract] [Full Text] [Related]

  • 9. A new growth deficiency syndrome.
    Myhre SA, Ruvalcaba RH, Graham CB.
    Clin Genet; 1981 Jul; 20(1):1-5. PubMed ID: 7296942
    [No Abstract] [Full Text] [Related]

  • 10. Acrocallosal syndrome: a new case.
    Lungarotti MS, Marinelli D, Mezzetti D, Caputo N, Calabro A.
    Am J Med Genet; 1991 Jul 01; 40(1):94-6. PubMed ID: 1887856
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant syndrome resembling Coffin-Siris syndrome.
    Flynn MA, Milunsky JM.
    Am J Med Genet A; 2006 Jun 15; 140(12):1326-30. PubMed ID: 16691594
    [Abstract] [Full Text] [Related]

  • 12. Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome.
    Miyazaki K, Yamanaka T, Oohira A.
    Tohoku J Exp Med; 1989 Aug 15; 158(4):325-34. PubMed ID: 2588262
    [Abstract] [Full Text] [Related]

  • 13. The Dyggve-Melchior-Clausen syndrome in adult siblings.
    Bonafede RP, Beighton P.
    Clin Genet; 1978 Jul 15; 14(1):24-30. PubMed ID: 679519
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 143(2):82-6. PubMed ID: 6519116
    [Abstract] [Full Text] [Related]

  • 15. A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.
    Tos T, Alp MY, Aksoy A, Ceylaner S, Hanauer A.
    Genet Couns; 2015 Dec 15; 26(1):47-52. PubMed ID: 26043507
    [Abstract] [Full Text] [Related]

  • 16. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F, Sammito V, Bellussi A, Neri G.
    Am J Med Genet; 1992 Oct 01; 44(3):315-20. PubMed ID: 1488978
    [No Abstract] [Full Text] [Related]

  • 17. Cardiac involvement in Coffin-Lowry syndrome.
    Krajewska-Walasek M, Kubicka K, Ryzko J.
    Eur J Pediatr; 1988 May 01; 147(4):448. PubMed ID: 3396606
    [No Abstract] [Full Text] [Related]

  • 18. The Coffin-Lowry syndrome. Experience from four centres.
    Hunter AG, Partington MW, Evans JA.
    Clin Genet; 1982 May 01; 21(5):321-35. PubMed ID: 7116677
    [Abstract] [Full Text] [Related]

  • 19. Cockayne's syndrome. Roentgen findings.
    Riggs W, Seibert J.
    Am J Roentgenol Radium Ther Nucl Med; 1972 Nov 01; 116(3):623-33. PubMed ID: 4641186
    [No Abstract] [Full Text] [Related]

  • 20. Autopsy findings in two adult siblings with Coffin-Lowry syndrome.
    Machin GA, Walther GL, Fraser VM.
    Am J Med Genet Suppl; 1987 Nov 01; 3():303-9. PubMed ID: 3130866
    [Abstract] [Full Text] [Related]

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