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Journal Abstract Search

660 related items for PubMed ID: 30170566

  • 1. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B.
    BMC Med Genet; 2018 Aug 31; 19(1):155. PubMed ID: 30170566
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  • 2. A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
    Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H.
    J Med Case Rep; 2017 Aug 26; 11(1):237. PubMed ID: 28841907
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  • 4. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
    Janssen EJM, Stegmann APA, Stumpel CTRM.
    Clin Dysmorphol; 2021 Jan 26; 30(1):58-61. PubMed ID: 32897902
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  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Loeys BL, Dietz HC.
    ; 1993 Jan 26. PubMed ID: 20301312
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  • 8. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
    Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K.
    Turk J Pediatr; 2012 Jan 26; 54(2):198-202. PubMed ID: 22734312
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  • 9. Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder.
    Jeon JW, Christensen J, Chisholm J, Zalewski C, Rasooly M, Dempsey C, Magnani A, Frischmeyer-Guerrerio P, Brewer CC, Kim HJ.
    Otolaryngol Head Neck Surg; 2022 Feb 26; 166(2):357-362. PubMed ID: 33971761
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  • 12. A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
    Chu FC, Hii LY, Hung TH, Lo LM, Hsieh TT, Shaw SW.
    Taiwan J Obstet Gynecol; 2021 Mar 26; 60(2):359-362. PubMed ID: 33678343
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  • 13. Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
    Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS.
    Mol Genet Genomic Med; 2021 May 26; 9(5):e1628. PubMed ID: 33951325
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  • 14. Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation.
    Jani P, Nguyen QC, Almpani K, Keyvanfar C, Mishra R, Liberton D, Orzechowski P, Frischmeyer-Guerrerio PA, Duverger O, Lee JS.
    J Med Genet; 2020 Oct 26; 57(10):699-707. PubMed ID: 32152251
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  • 18. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.
    Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X.
    Mol Vis; 2016 Oct 26; 22():697-704. PubMed ID: 27390512
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  • 19. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian GenomicsUniversity of Washington Center for Mendelian Genomics, Seattle, Washington., Hudgins L.
    Am J Med Genet A; 2018 Dec 26; 176(12):2887-2891. PubMed ID: 30450842
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