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

141 related items for PubMed ID: 17676604

  • 1. Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.
    Park SM, Hall CM, Gray R, Firth HV.
    Am J Med Genet A; 2007 Sep 01; 143A(17):2024-8. PubMed ID: 17676604
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance.
    Hall CM, Elcioglu NH, MacDermot KD, Offiah AC, Winter RM.
    J Med Genet; 2002 Sep 01; 39(9):666-70. PubMed ID: 12205110
    [No Abstract] [Full Text] [Related]

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

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

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. 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]

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

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

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.
    Rozovsky K, Sosna J, Le Merrer M, Simanovsky N, Koplewitz BZ, Bar-Ziv J, Cormier-Daire V, Raas-Rothschild A.
    Pediatr Radiol; 2011 Oct 01; 41(10):1298-307. PubMed ID: 21818555
    [Abstract] [Full Text] [Related]

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

  • 14. Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
    Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.
    Am J Hum Genet; 2011 Dec 09; 89(6):760-6. PubMed ID: 22152677
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 52(1):115-118. PubMed ID: 35776137
    [Abstract] [Full Text] [Related]

  • 16. Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.
    Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K.
    Am J Med Genet A; 2021 Oct 09; 185(10):3104-3110. PubMed ID: 34089299
    [Abstract] [Full Text] [Related]

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

  • 18. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.
    Am J Med Genet A; 2007 Jan 15; 143A(2):161-7. PubMed ID: 17163530
    [Abstract] [Full Text] [Related]

  • 19. Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset.
    de Ravel TJ, De Smet L, Fryns JP.
    Clin Dysmorphol; 2002 Oct 15; 11(4):261-6. PubMed ID: 12401991
    [Abstract] [Full Text] [Related]

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

    Page: [Next] [New Search]
    of 8.