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Journal Abstract Search

141 related items for PubMed ID: 8956941

  • 21. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3.
    Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V.
    J Med Genet; 2003 Apr; 40(4):282-4. PubMed ID: 12676900
    [Abstract] [Full Text] [Related]

  • 22. Desbuquois syndrome: clinical and radiological report of the first two Chinese cases from a consanguineous family.
    Lam WF, Chan HB, Sillence DO.
    J Paediatr Child Health; 2003 Dec; 39(9):707-12. PubMed ID: 14629506
    [Abstract] [Full Text] [Related]

  • 23. Dysplasia epiphysealis hemimelica: a case simulating an intra-articular body.
    Noyes FR, Kivi LP.
    Clin Orthop Relat Res; 1972 Dec; 86():175-7. PubMed ID: 4625878
    [No Abstract] [Full Text] [Related]

  • 24. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
    Piwar H, Ordak M, Bujalska-Zadrozny M.
    Int J Mol Sci; 2024 Sep 07; 25(17):. PubMed ID: 39273648
    [Abstract] [Full Text] [Related]

  • 25. SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.
    Masuno M, Nishimura G, Adachi M, Hotsubo T, Tachibana K, Makita Y, Imaizumi K, Kuroki Y.
    Am J Med Genet; 1996 Dec 30; 66(4):429-32. PubMed ID: 8989461
    [Abstract] [Full Text] [Related]

  • 26. New skeletal dysplasia with unique brachydactyly.
    Mononen TK, Karnes PS, Senac MO, Falk RE.
    Am J Med Genet; 1992 Mar 01; 42(5):706-13. PubMed ID: 1632443
    [Abstract] [Full Text] [Related]

  • 27. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.
    Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.
    Am J Med Genet A; 2004 Feb 15; 125A(1):61-6. PubMed ID: 14755468
    [Abstract] [Full Text] [Related]

  • 28. Marshall-Smith syndrome: new radiographic, clinical, and pathologic observations.
    Eich GF, Silver MM, Weksberg R, Daneman A, Costa T.
    Radiology; 1991 Oct 15; 181(1):183-8. PubMed ID: 1909446
    [Abstract] [Full Text] [Related]

  • 29. Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs.
    Houdayer C, Ziegler A, Boussion F, Blesson S, Bris C, Toutain A, Biquard F, Guichet A, Bonneau D, Colin E.
    J Matern Fetal Neonatal Med; 2021 Jul 15; 34(13):2217-2220. PubMed ID: 31510824
    [Abstract] [Full Text] [Related]

  • 30. Familial rhizomelic dysplasia: phenotypic variation or heterogeneity?
    Viljoen D, Goldblatt J, Wallis C, Beighton P.
    Am J Med Genet; 1987 Apr 15; 26(4):941-7. PubMed ID: 3591839
    [Abstract] [Full Text] [Related]

  • 31. Rhizomelic bone dysplasia with club-like femora (case report and confirmation of a syndrome).
    Kiss P, Kozlowski K, Zavodi E.
    Australas Radiol; 1991 Aug 15; 35(3):266-7. PubMed ID: 1763991
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  • 34. Pyle metaphyseal dysplasia.
    Gupta N, Kabra M, Das CJ, Gupta AK.
    Indian Pediatr; 2008 Apr 15; 45(4):323-5. PubMed ID: 18451455
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  • 36. Recessive spondylocostal dysostosis: two new cases.
    Silengo MC, Cavallaro S, Franceschini P.
    Clin Genet; 1978 Mar 15; 13(3):289-94. PubMed ID: 416928
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  • 39. The radiological manifestations of metaphyseal dysplasia (Pyle disease).
    Heselson NG, Raad MS, Hamersma H, Cremin BJ, Beighton P.
    Br J Radiol; 1979 Jun 15; 52(618):431-40. PubMed ID: 465917
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