BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 8897044)

  • 1. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL; Beighton P
    Genet Couns; 1996; 7(3):219-25. PubMed ID: 8897044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
    Pina-Neto JM; Defino HL; Guedes ML; Jorge SM
    Am J Med Genet; 1996 Jan; 61(2):131-3. PubMed ID: 8669438
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient.
    Bradburn JM; Hall BD
    Am J Med Genet; 1995 Nov; 59(2):234-7. PubMed ID: 8588592
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
    Smith W; Ji HP; Mouradian W; Pagon RA
    Am J Med Genet; 1999 Sep; 86(3):245-52. PubMed ID: 10482874
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K; Beighton P
    Rofo; 1984 Sep; 141(3):337-41. PubMed ID: 6435203
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Beighton P
    J Med Genet; 1994 Feb; 31(2):136-40. PubMed ID: 8182720
    [No Abstract]   [Full Text] [Related]  

  • 7. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.
    Torrington M; Beighton P
    Clin Genet; 1991 Mar; 39(3):210-3. PubMed ID: 2036742
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.
    Sulko J; Kozlowski K
    J Pediatr Orthop B; 2008 Nov; 17(6):323-7. PubMed ID: 18841068
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
    Chimusa ER; Beighton P; Kumuthini J; Ramesar RS
    Hum Mol Genet; 2019 Apr; 28(7):1053-1063. PubMed ID: 30358852
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.
    Honey EM
    S Afr Med J; 2016 May; 106(6 Suppl 1):S54-6. PubMed ID: 27245527
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.
    Al Kaissi A; Chehida FB; Ghachem MB; Klaushofer K; Grill F
    Skeletal Radiol; 2008 May; 37(5):469-73. PubMed ID: 18256824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families.
    Vorster AA; Beighton P; Ramesar RS
    Clin Genet; 2015 May; 87(5):492-5. PubMed ID: 24766538
    [TBL] [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; 89(6):760-6. PubMed ID: 22152677
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Tsirikos AI; Mason DE; Scott CI; Chang WN
    Am J Med Genet A; 2003 Jun; 119A(3):386-90. PubMed ID: 12784311
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
    Leoni C; Tedesco M; Radio FC; Chillemi G; Leone A; Bruselles A; Ciolfi A; Stellacci E; Pantaleoni F; Butera G; Rigante D; Onesimo R; Tartaglia M; Zampino G
    Am J Med Genet A; 2021 Oct; 185(10):3153-3160. PubMed ID: 34159694
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
    Dubail J; Rondeau S; Michot C; Baujat G; Capri Y; Thévenon J; Charpie M; Pejin Z; Phan G; Huber C; Cormier-Daire V
    J Bone Miner Res; 2024 Apr; 39(3):287-297. PubMed ID: 38477767
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
    Boyden ED; Campos-Xavier AB; Kalamajski S; Cameron TL; Suarez P; Tanackovic G; Andria G; Ballhausen D; Briggs MD; Hartley C; Cohn DH; Davidson HR; Hall C; Ikegawa S; Jouk PS; König R; Megarbané A; Nishimura G; Lachman RS; Mortier G; Rimoin DL; Rogers RC; Rossi M; Sawada H; Scott R; Unger S; Valadares ER; Bateman JF; Warman ML; Superti-Furga A; Bonafé L
    Am J Hum Genet; 2011 Dec; 89(6):767-72. PubMed ID: 22152678
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diastrophic dysplasia: extreme variability within a sibship.
    Hall BD
    Am J Med Genet; 1996 May; 63(1):28-33. PubMed ID: 8723083
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.