These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

113 related items for PubMed ID: 12401991

  • 1. Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.
    de Ravel TJ, De Smet L, Fryns JP.
    Clin Dysmorphol; 2002 Oct; 11(4):261-6. PubMed ID: 12401991
    [Abstract] [Full Text] [Related]

  • 2. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
    [Abstract] [Full Text] [Related]

  • 3. A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
    Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM.
    QJM; 2003 Sep 01; 96(9):663-71. PubMed ID: 12925722
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6. A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.
    Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF.
    Clin Dysmorphol; 2006 Oct 01; 15(4):197-202. PubMed ID: 16957471
    [Abstract] [Full Text] [Related]

  • 7. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
    Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.
    Am J Med Genet A; 2017 Mar 01; 173(3):733-739. PubMed ID: 27888646
    [Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
    Merrick B, Calder A, Wakeling E.
    Am J Med Genet A; 2015 Dec 01; 167A(12):3103-7. PubMed ID: 26250472
    [Abstract] [Full Text] [Related]

  • 11. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
    Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
    Skeletal Radiol; 2023 Jan 01; 52(1):115-118. PubMed ID: 35776137
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin.
    Shohat M, Lachman R, Carmi R, Bar Ziv J, Rimoin D.
    Am J Med Genet; 1993 Jun 01; 46(4):358-62. PubMed ID: 8357004
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.
    Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A.
    Am J Med Genet A; 2013 Oct 01; 161A(10):2645-51. PubMed ID: 23956136
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.
    Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V.
    Am J Med Genet A; 2008 Apr 15; 146A(8):992-6. PubMed ID: 18348257
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.