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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

119 related items for PubMed ID: 30358852

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  • 2. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
    Christianson AL, Beighton P.
    Genet Couns; 1996; 7(3):219-25. PubMed ID: 8897044
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  • 4. 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 19; 39(3):287-297. PubMed ID: 38477767
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  • 5. 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 19; 87(5):492-5. PubMed ID: 24766538
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  • 6. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
    Pina-Neto JM, Defino HL, Guedes ML, Jorge SM.
    Am J Med Genet; 1996 Jan 11; 61(2):131-3. PubMed ID: 8669438
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  • 7. 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 09; 89(6):767-72. PubMed ID: 22152678
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  • 8. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.
    Torrington M, Beighton P.
    Clin Genet; 1991 Mar 09; 39(3):210-3. PubMed ID: 2036742
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  • 10. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Beighton P.
    J Med Genet; 1994 Feb 09; 31(2):136-40. PubMed ID: 8182720
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  • 12. Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
    Grosch M, Grüner B, Spranger S, Stütz AM, Rausch T, Korbel JO, Seelow D, Nürnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A.
    Matrix Biol; 2013 Feb 09; 32(7-8):387-92. PubMed ID: 23665482
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  • 14. 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 17; 86(3):245-52. PubMed ID: 10482874
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  • 18. 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 17; 185(10):3153-3160. PubMed ID: 34159694
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