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Journal Abstract Search

119 related items for PubMed ID: 30358852

  • 21. [Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity].
    Zhang J, Huang K, Dong G.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug 10; 37(8):887-890. PubMed ID: 32761602
    [Abstract] [Full Text] [Related]

  • 22. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
    Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S.
    Am J Hum Genet; 2013 Jun 06; 92(6):927-34. PubMed ID: 23664117
    [Abstract] [Full Text] [Related]

  • 23. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.
    Kozlowski K, Beighton P.
    Rofo; 1984 Sep 06; 141(3):337-41. PubMed ID: 6435203
    [Abstract] [Full Text] [Related]

  • 24. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
    Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L.
    Genes (Basel); 2019 Oct 12; 10(10):. PubMed ID: 31614862
    [Abstract] [Full Text] [Related]

  • 25. MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
    Shyamasundar LG, Loganathan L, Kumar A, Selina A, Madhuri V.
    Indian J Pediatr; 2020 Mar 12; 87(3):227-228. PubMed ID: 31724101
    [No Abstract] [Full Text] [Related]

  • 26. A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family.
    Yasin S, Mustafa S, Ayesha A, Latif M, Hassan M, Faisal M, Makitie O, Iqbal F, Naz S.
    Eur J Med Genet; 2020 Aug 12; 63(8):103958. PubMed ID: 32470407
    [Abstract] [Full Text] [Related]

  • 27. Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.
    Beighton P, Kozlowski K, Gericke G, Wallis G, Grobler L.
    S Afr Med J; 1983 Nov 05; 64(20):772-5. PubMed ID: 6635864
    [Abstract] [Full Text] [Related]

  • 28. Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene.
    Forster KR, Hooper JE, Blakemore KJ, Baschat AA, Hoover-Fong J.
    Am J Med Genet A; 2019 Dec 05; 179(12):2490-2493. PubMed ID: 31587486
    [Abstract] [Full Text] [Related]

  • 29. 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 05; 37(5):469-73. PubMed ID: 18256824
    [Abstract] [Full Text] [Related]

  • 30. A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.
    Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K.
    Eur J Hum Genet; 2016 Aug 05; 24(8):1206-10. PubMed ID: 26669664
    [Abstract] [Full Text] [Related]

  • 31. 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 05; 161A(10):2645-51. PubMed ID: 23956136
    [Abstract] [Full Text] [Related]

  • 32. A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
    Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L.
    Am J Hum Genet; 2001 Nov 05; 69(5):969-80. PubMed ID: 11565064
    [Abstract] [Full Text] [Related]

  • 33. Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.
    Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I.
    Clin Genet; 2018 Mar 05; 93(3):671-674. PubMed ID: 28892125
    [Abstract] [Full Text] [Related]

  • 34. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
    Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S.
    Skeletal Radiol; 2009 Aug 05; 38(8):803-11. PubMed ID: 19277648
    [Abstract] [Full Text] [Related]

  • 35. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
    Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R.
    Clin Genet; 2017 Jan 05; 91(1):30-37. PubMed ID: 27102849
    [Abstract] [Full Text] [Related]

  • 36. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
    Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS.
    Am J Med Genet; 1997 Feb 11; 68(4):396-400. PubMed ID: 9021009
    [Abstract] [Full Text] [Related]

  • 37. 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 11; 176(12):2934-2935. PubMed ID: 30284759
    [No Abstract] [Full Text] [Related]

  • 38. Linkage studies of a Missouri kindred with autosomal dominant spondyloepimetaphyseal dysplasia (SEMD) indicate genetic heterogeneity.
    Gertner JM, Whyte MP, Dixon PH, Pang JT, Trump D, Pearce SH, Wooding C, Thakker RV.
    J Bone Miner Res; 1997 Aug 11; 12(8):1204-9. PubMed ID: 9258750
    [Abstract] [Full Text] [Related]

  • 39. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type.
    Figuera LE, Ramírez-Dueñas ML, Gallegos-Arreola MP, Cantú JM.
    Am J Med Genet; 1994 Jul 01; 51(3):213-5. PubMed ID: 8074146
    [Abstract] [Full Text] [Related]

  • 40. A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
    Ho TT, Tran LH, Hoang LT, Doan PKT, Nguyen TT, Nguyen TH, Tran HT, Hoang H, Chu HH, Luong ALT.
    BMC Musculoskelet Disord; 2020 Apr 07; 21(1):216. PubMed ID: 32264862
    [Abstract] [Full Text] [Related]

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