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Journal Abstract Search

290 related items for PubMed ID: 18056050

  • 1. The skeletal dysplasias: clinical-molecular correlations.
    Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y.
    Ann N Y Acad Sci; 2007 Nov; 1117():302-9. PubMed ID: 18056050
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  • 2. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.
    Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG.
    Clin Genet; 2009 Feb; 75(2):150-6. PubMed ID: 19215249
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  • 4. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
    Wasant P, Waeteekul S, Rimoin DL, Lachman RS.
    Southeast Asian J Trop Med Public Health; 1995 Feb; 26 Suppl 1():59-67. PubMed ID: 8629144
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  • 5. Molecular-pathogenetic classification of genetic disorders of the skeleton.
    Superti-Furga A, Bonafé L, Rimoin DL.
    Am J Med Genet; 2001 Feb; 106(4):282-93. PubMed ID: 11891680
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  • 6. Morphologic studies in the skeletal dysplasias.
    Sillence DO, Horton WA, Rimoin DL.
    Am J Pathol; 1979 Sep; 96(3):813-70. PubMed ID: 474720
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  • 7. Osteochondrodysplasias in South Africa.
    Beighton P.
    Am J Med Genet; 1996 May 03; 63(1):7-11. PubMed ID: 8723079
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  • 8. Skeletal Dysplasias: An Overview.
    Offiah AC.
    Endocr Dev; 2015 May 03; 28():259-276. PubMed ID: 26138847
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  • 9. Fetal skeletal anomalies.
    Romero R, Athanassiadis AP, Jeanty P.
    Radiol Clin North Am; 1990 Jan 03; 28(1):75-99. PubMed ID: 2404307
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  • 10. Radiology case of the month. Sclerotic bone disease in an 8-year-old dwarf. Pycnodysostosis.
    Ram PB, Ram SK, Neitzschman H.
    J La State Med Soc; 2002 Jan 03; 154(6):287-8. PubMed ID: 12517022
    [No Abstract] [Full Text] [Related]

  • 11. [Genetic basis for skeletal disease. Nosology and molecular classification of skeletal dysplasias].
    Namba N.
    Clin Calcium; 2010 Aug 03; 20(8):1159-65. PubMed ID: 20675925
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  • 12. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
    Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE.
    Clin Genet; 2017 Jul 03; 92(1):91-98. PubMed ID: 28067412
    [Abstract] [Full Text] [Related]

  • 13. Severe neurological complications in skeletal dysplasias: two case reports.
    Weisfelt M, Poll-The BT, Hennekam RC.
    Eur J Paediatr Neurol; 2006 Jul 03; 10(5-6):241-3. PubMed ID: 17035051
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  • 15. International nosology and classification of constitutional disorders of bone (2001).
    Hall CM.
    Am J Med Genet; 2002 Nov 15; 113(1):65-77. PubMed ID: 12400068
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  • 16. A review of the principles of radiological assessment of skeletal dysplasias.
    Alanay Y, Lachman RS.
    J Clin Res Pediatr Endocrinol; 2011 Nov 15; 3(4):163-78. PubMed ID: 22155458
    [Abstract] [Full Text] [Related]

  • 17. Current state of the art in treatment of Mendelian disease: Skeletal dysplasias.
    Hoover-Fong J.
    Am J Med Genet A; 2021 Nov 15; 185(11):3359-3368. PubMed ID: 34487414
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