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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

114 related articles for article (PubMed ID: 31523532)

  • 1. Spondyloepiphyseal Dysplasia Congenita: A Rare Cause of Respiratory Distress.
    Saleem S; Anwar A; Iftikhar PM; Anjum Z; Tariq Z
    Cureus; 2019 Jul; 11(7):e5101. PubMed ID: 31523532
    [TBL] [Abstract][Full Text] [Related]  

  • 2. True generalized microdontia and hypodontia with spondyloepiphyseal dysplasia.
    Singhal A; Singhal P; Gupta R; Jarial KD
    Case Rep Dent; 2013; 2013():685781. PubMed ID: 24416601
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature.
    Veeravagu A; Lad SP; Camara-Quintana JQ; Jiang B; Shuer L
    World Neurosurg; 2013; 80(3-4):437.e1-8. PubMed ID: 22381876
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita.
    LeDoux MS; Naftalis RC; Aronin PA
    Neurosurgery; 1991 Apr; 28(4):580-3. PubMed ID: 2034354
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Thoracic dysplasia in spondyloepiphyseal dysplasia congenita.
    Naumoff P
    Am J Dis Child; 1977 Jun; 131(6):653-4. PubMed ID: 405862
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
    Cole WG; Hall RK; Rogers JG
    J Med Genet; 1993 Jan; 30(1):27-35. PubMed ID: 8423604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
    Donahue LR; Chang B; Mohan S; Miyakoshi N; Wergedal JE; Baylink DJ; Hawes NL; Rosen CJ; Ward-Bailey P; Zheng QY; Bronson RT; Johnson KR; Davisson MT
    J Bone Miner Res; 2003 Sep; 18(9):1612-21. PubMed ID: 12968670
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism.
    Macpherson RI; Wood BP
    Pediatr Radiol; 1980 Jul; 9(4):217-24. PubMed ID: 6773018
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case report of spondyloepiphyseal dysplasia congenita.
    Gembun Y; Nakayama Y; Shirai Y; Miyamoto M; Sawaizumi T; Kitamura S
    J Nippon Med Sch; 2001 Apr; 68(2):186-9. PubMed ID: 11301365
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spondyloepiphyseal dysplasia congenita: report of one case.
    Lai SW; Tsai FJ; Tan CK; Lin CC; Peng CT; Tsai CH
    Acta Paediatr Taiwan; 1999; 40(3):189-91. PubMed ID: 10910613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.
    Sezer A; Özdemir Z; Özkan E; Çetinkaya S
    Am J Med Genet A; 2024 Aug; ():e63852. PubMed ID: 39149811
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Nenna R; Turchetti A; Mastrogiorgio G; Midulla F
    Appl Clin Genet; 2019; 12():235-238. PubMed ID: 31824186
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic heterogeneity in spondyloepiphyseal dysplasia congenita.
    Harrod MJ; Friedman JM; Currarino G; Pauli RM; Langer LO
    Am J Med Genet; 1984 Jun; 18(2):311-20. PubMed ID: 6431817
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Management of Craniocervical Instability in Spondyloepiphyseal Dysplasia Congenita: Assessment of Literature and Presentation of Two Cases.
    Falls CJ; Page PS; Greeneway GP; Stadler JA
    Cureus; 2022 Jul; 14(7):e27020. PubMed ID: 35989807
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.
    Fiedler J; Frances AM; Le Merrer M; Richter M; Brenner RE
    Spine (Phila Pa 1976); 2003 Nov; 28(22):E478-82. PubMed ID: 14624098
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita.
    Ishida Y; Koh S; Kaito T; Nishida K
    Case Rep Ophthalmol; 2018; 9(1):138-142. PubMed ID: 29643796
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family.
    Chung SW; Kang EH; Lee YJ; Ha YJ; Song YW
    Yonsei Med J; 2016 Sep; 57(5):1290-3. PubMed ID: 27401665
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spondyloepiphyseal dysplasia congenita.
    Turner LM; Steffensen TS; Leroy J; Gilbert-Barness E
    Fetal Pediatr Pathol; 2010; 29(1):57-62. PubMed ID: 20055564
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Does it always have to be Perthes' disease? What is epiphyseal dysplasia?
    Hesse B; Kohler G
    Clin Orthop Relat Res; 2003 Sep; (414):219-27. PubMed ID: 12966296
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Osteoarthritis in a fifty-year-old patient with unfused skeleton due to undiagnosed coexisting cleidocranial and spondyloepiphyseal dysplasia - Case report.
    Zaidi DM; Akhtar SE; Shakil S; Wasif DM; Siraj DR; Almas T; Ramjohn J; Alkhattab M; Ahmed R; Thakur T
    Ann Med Surg (Lond); 2022 Jul; 79():104066. PubMed ID: 35860135
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.