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 *

243 related articles for article (PubMed ID: 18328979)

  • 1. Spondylo-epi-metaphyseal dysplasia.
    Cormier-Daire V
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):33-44. PubMed ID: 18328979
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).
    Kozlowski K; Robben S; Bellemore M; Sillence D; Zonderland H
    Radiol Med; 1993; 85(1-2):7-11. PubMed ID: 8480052
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).
    Padash S; Obaid H; Henderson RDE; Padash Y; Adams SJ; Miller SF; Babyn P
    Pediatr Radiol; 2023 May; 53(5):971-983. PubMed ID: 36627376
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Late spondylo-epiphyseal dysplasia. Apropos of 3 new cases].
    Rémy J; Béguery P; Binot A; Ponté C
    J Radiol Electrol Med Nucl; 1973 Nov; 54(11):805-12. PubMed ID: 4208876
    [No Abstract]   [Full Text] [Related]  

  • 5. Pseudoachondroplastic dysplasia.
    Khungar A; Mahajan P; Gupte G; Vasundhara M; Kher A; Bharucha BA
    J Postgrad Med; 1993; 39(2):91-3. PubMed ID: 8169872
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 46(4):358-62. PubMed ID: 8357004
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
    Borochowitz ZU; Scheffer D; Adir V; Dagoneau N; Munnich A; Cormier-Daire V
    J Med Genet; 2004 May; 41(5):366-72. PubMed ID: 15121775
    [No Abstract]   [Full Text] [Related]  

  • 8. New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.
    Reardon W; Hall CM; Shaw DG; Kendall B; Hayward R; Winter RM
    Am J Med Genet; 1994 Oct; 52(4):432-7. PubMed ID: 7747755
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
    Das L; Dhiman V; Van Hul W; Bhansali A; Gogate Y; Steenackers E; Mortier G; Bhadada SK
    Bone Rep; 2020 Jun; 12():100245. PubMed ID: 32025536
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 143A(2):161-7. PubMed ID: 17163530
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic heterogeneity in skeletal dysplasias.
    Frias JL
    Ann Clin Lab Sci; 1975; 5(6):435-9. PubMed ID: 812417
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
    Beighton P; Gericke G; Kozlowski K; Grobler L
    Clin Genet; 1984 Oct; 26(4):308-17. PubMed ID: 6499247
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
    Unger S; Bonafé L; Superti-Furga A
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):19-32. PubMed ID: 18328978
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [A special form of dominant spondylo-epiphyseal dysplasia (author's transl)]].
    Stanescu V; Stanescu R; Maroteaux P
    Arch Fr Pediatr; 1981 Dec; 38 Suppl 1():843-6. PubMed ID: 6800335
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
    Campos-Xavier B; Rogers RC; Niel-Bütschi F; Ferreira C; Unger S; Spranger J; Superti-Furga A
    Am J Med Genet A; 2018 Dec; 176(12):2934-2935. PubMed ID: 30284759
    [No Abstract]   [Full Text] [Related]  

  • 16. A new syndrome of "spondylo-epi-metaphyseal dysplasia: mixed type".
    Sharma BG
    Skeletal Radiol; 2003 Feb; 32(2):111-5. PubMed ID: 12589493
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity.
    Nakamura S; Haga N; Shimode M; Taniguchi K; Ikegawa S; Iwaya T
    Clin Dysmorphol; 1999 Jul; 8(3):189-92. PubMed ID: 10457852
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
    Guo L; Elcioglu NH; Mizumoto S; Wang Z; Noyan B; Albayrak HM; Yamada S; Matsumoto N; Miyake N; Nishimura G; Ikegawa S
    J Hum Genet; 2017 Aug; 62(8):797-801. PubMed ID: 28331220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.
    Lv S; Zhao J; Liu L; Wang C; Yue H; Zhang H; Li S; Zhang Z
    Front Genet; 2022; 13():960504. PubMed ID: 36118854
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 61(2):164-7. PubMed ID: 8669445
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.