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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]