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Journal Abstract Search

119 related items for PubMed ID: 30358852

  • 41. 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 01; 46(4):358-62. PubMed ID: 8357004
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  • 42. Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress.
    Wang YC, Liu JS, Chen JY, Wu SQ, Wang GR, Nie J, Zhang SK, Guo QL, Luo JM.
    Int J Mol Med; 2015 Dec 01; 36(6):1648-56. PubMed ID: 26499313
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  • 43. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
    Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Care4Rare Canada Consortium, Maas RL, Boycott K, Alkuraya FS.
    Am J Hum Genet; 2015 Oct 01; 97(4):608-15. PubMed ID: 26365341
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  • 45. A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature.
    Franceschi R, Iascone M, Maitz S, Marchetti D, Mariani M, Selicorni A, Soffiati M, Maines E.
    Am J Med Genet A; 2022 Aug 01; 188(8):2434-2437. PubMed ID: 35670300
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  • 47. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
    Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH.
    Cell; 1995 Feb 10; 80(3):431-7. PubMed ID: 7859284
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  • 50. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y.
    Eur J Med Genet; 2020 Nov 10; 63(11):104021. PubMed ID: 32755715
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  • 51. KIF22 regulates mitosis and proliferation of chondrocyte cells.
    Kawaue H, Matsubara T, Nagano K, Ikedo A, Rojasawasthien T, Yoshimura A, Nakatomi C, Imai Y, Kakuta Y, Addison WN, Kokabu S.
    iScience; 2024 Jul 19; 27(7):110151. PubMed ID: 38989461
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  • 54. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.
    Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E.
    Nat Genet; 1992 Nov 19; 2(3):204-11. PubMed ID: 1345170
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  • 55. Clinical and genetic heterogeneity in Desbuquois dysplasia.
    Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V.
    Am J Med Genet A; 2004 Jul 01; 128A(1):29-32. PubMed ID: 15211652
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  • 56. Association and linkage disequilibrium analyses suggest genetic effects of estrogen receptor alpha and collagen IA1 genes on bone mineral density in Caucasian women.
    Sapir-Koren R, Livshits G, Kobyliansky E.
    Calcif Tissue Int; 2003 Jun 01; 72(6):643-50. PubMed ID: 14562991
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  • 57. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
    Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
    Hum Mutat; 2022 Dec 01; 43(12):2116-2129. PubMed ID: 36150098
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  • 58. Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
    Crotti L, Lahtinen AM, Spazzolini C, Mastantuono E, Monti MC, Morassutto C, Parati G, Heradien M, Goosen A, Lichtner P, Meitinger T, Brink PA, Kontula K, Swan H, Schwartz PJ.
    Circ Cardiovasc Genet; 2016 Aug 01; 9(4):330-9. PubMed ID: 27531917
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  • 59. Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.
    Ricci R, Aulisa L, Antuzzi D, Serra F, Segni G, Kozlowski K.
    Pediatr Radiol; 1995 Aug 01; 25(4):303-5. PubMed ID: 7567245
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