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Journal Abstract Search

148 related items for PubMed ID: 12195301

  • 1. Gracile bone dysplasias.
    Kozlowski K, Masel J, Sillence DO, Arbuckle S, Juttnerova V.
    Pediatr Radiol; 2002 Sep; 32(9):629-34. PubMed ID: 12195301
    [Abstract] [Full Text] [Related]

  • 2. Gracile bone dysplasia.
    Thomas JA, Rimoin DL, Lachman RS, Wilcox WR.
    Am J Med Genet; 1998 Jan 06; 75(1):95-100. PubMed ID: 9450865
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  • 4. Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
    Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T.
    BMC Med Genet; 2020 Jan 07; 21(1):7. PubMed ID: 31910817
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  • 5. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    Müller R, Steffensen T, Krstić N, Cain MA.
    Am J Med Genet A; 2021 Jun 07; 185(6):1903-1907. PubMed ID: 33750016
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  • 6. Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review.
    Puvabanditsin S, February M, Stefano VD, Vinod S, Minerowicz C, Hussein K, Mayne J, Mehta R.
    Genet Couns; 2016 Jun 07; 27(2):149-57. PubMed ID: 29485259
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  • 7. Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.
    Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS.
    Am J Med Genet A; 2006 Jul 15; 140(14):1553-63. PubMed ID: 16770805
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  • 11. Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood.
    Bronicki LM, Stevenson RE, Spranger JW.
    Am J Med Genet C Semin Med Genet; 2015 Dec 15; 169(4):314-27. PubMed ID: 26531771
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  • 14. Infantile metaphysial dysplasia or "battered babies"? A reassessment of material in the Fairbank Collection.
    Horan FT, Beighton PH.
    J Bone Joint Surg Br; 1980 May 15; 62-B(2):243-7. PubMed ID: 6965941
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  • 15. Acromesomelic dysplasia.
    Langer LO, Garrett RT.
    Radiology; 1980 Nov 15; 137(2):349-55. PubMed ID: 7433666
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  • 17. Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel.
    Spear GS.
    Am J Med Genet A; 2006 Nov 01; 140(21):2341-8. PubMed ID: 17036309
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  • 18. Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias.
    Giedion A.
    Pediatr Radiol; 2002 Mar 01; 32(3):214. PubMed ID: 12164361
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  • 20. Distal femoral epiphysis: normal standards for thickness and application to bone dysplasias.
    Schlesinger AE, Poznanski AK, Pudlowski RM, Millar EA.
    Radiology; 1986 May 01; 159(2):515-9. PubMed ID: 3961186
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