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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

229 related items for PubMed ID: 8723085

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  • 2. Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.
    Fryns JP, Lorenzetti ME, Maroteaux P, Van den Berghe H.
    Am J Med Genet; 1996 Jan 11; 61(2):164-7. PubMed ID: 8669445
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  • 3. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations.
    Cole WG.
    Clin Orthop Relat Res; 1997 Aug 11; (341):162-9. PubMed ID: 9269170
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  • 4. Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.
    Rimoin DL, Siggers DC, Lachman RS, Silberberg R.
    Clin Orthop Relat Res; 1976 Aug 11; (114):70-82. PubMed ID: 177239
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  • 5. Dyssegmental dysplasia Silverman-Handmaker type in a consanguineous Druze Lebanese family: long term survival and documentation of the natural history.
    Prabhu VG, Kozma C, Leftridge CA, Helmbrecht GD, France ML.
    Am J Med Genet; 1998 Jan 13; 75(2):164-70. PubMed ID: 9450878
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  • 7. Small deletions in the type II collagen triple helix produce kniest dysplasia.
    Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH.
    Am J Med Genet; 1999 Jul 16; 85(2):105-12. PubMed ID: 10406661
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  • 8. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
    Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B.
    Pediatr Radiol; 1994 Jul 16; 24(6):431-5. PubMed ID: 7700721
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  • 13. Spondylometaphyseal dysplasia-Sedaghatian type.
    Elçioglu N, Hall CM.
    Am J Med Genet; 1998 Apr 13; 76(5):410-4. PubMed ID: 9556300
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  • 15. A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance?
    Farag TI, Al-Awadi SA, Hunt MC, Satyanath S, Zahran M, Usha R, Uma R.
    J Med Genet; 1987 Oct 13; 24(10):597-601. PubMed ID: 3681904
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  • 17. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
    Spranger J, Winterpacht A, Zabel B.
    Am J Med Genet; 1997 Mar 03; 69(1):79-84. PubMed ID: 9066888
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  • 18. Association between Kniest dysplasia and chondrosarcoma in a child.
    Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P.
    Am J Med Genet A; 2015 Dec 03; 167A(12):3204-8. PubMed ID: 26345137
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