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192 related items for PubMed ID: 35741851

  • 1. Dominant Stickler Syndrome.
    Soh Z, Richards AJ, McNinch A, Alexander P, Martin H, Snead MP.
    Genes (Basel); 2022 Jun 18; 13(6):. PubMed ID: 35741851
    [Abstract] [Full Text] [Related]

  • 2. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
    Nixon T, Richards AJ, Lomas A, Abbs S, Vasudevan P, McNinch A, Alexander P, Snead MP.
    Mol Genet Genomic Med; 2020 Sep 18; 8(9):e1354. PubMed ID: 32578940
    [Abstract] [Full Text] [Related]

  • 3. Autosomal Recessive Stickler Syndrome.
    Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP.
    Genes (Basel); 2022 Jun 24; 13(7):. PubMed ID: 35885918
    [Abstract] [Full Text] [Related]

  • 4. Hearing Loss in Stickler Syndrome: An Update.
    Acke FRE, De Leenheer EMR.
    Genes (Basel); 2022 Sep 01; 13(9):. PubMed ID: 36140739
    [Abstract] [Full Text] [Related]

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  • 6. 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 Sep 01; 22():697-704. PubMed ID: 27390512
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  • 8. 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 01; 9(5):e1628. PubMed ID: 33951325
    [Abstract] [Full Text] [Related]

  • 9. Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.
    Wu H, Che S, Li S, Cheng Y, Xiao J, Liu Z.
    Mol Genet Genomic Med; 2021 Oct 01; 9(10):e1781. PubMed ID: 34405586
    [Abstract] [Full Text] [Related]

  • 10. Hearing Outcomes in Stickler Syndrome: Variation Due to COL2A1 and COL11A1.
    Bath F, Swanson D, Zavala H, Chinnadurai S, Roby BB.
    Cleft Palate Craniofac J; 2022 Aug 01; 59(8):970-975. PubMed ID: 34238052
    [Abstract] [Full Text] [Related]

  • 11. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
    Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.
    Eur J Hum Genet; 2010 Aug 01; 18(8):872-80. PubMed ID: 20179744
    [Abstract] [Full Text] [Related]

  • 12. Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
    Brizola E, Gnoli M, Tremosini M, Nucci P, Bargiacchi S, La Barbera A, Giglio S, Sangiorgi L.
    Mol Genet Genomic Med; 2020 Sep 01; 8(9):e1353. PubMed ID: 32558342
    [Abstract] [Full Text] [Related]

  • 13. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
    Kjellström U, Martell S, Brobeck C, Andréasson S.
    Ophthalmic Genet; 2021 Apr 01; 42(2):161-169. PubMed ID: 33356723
    [Abstract] [Full Text] [Related]

  • 14. Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
    Huang L, Chen C, Wang Z, Sun L, Li S, Zhang T, Luo X, Ding X.
    Genes (Basel); 2020 Aug 03; 11(8):. PubMed ID: 32756486
    [Abstract] [Full Text] [Related]

  • 15. Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
    Choi SI, Woo SJ, Oh BL, Han J, Lim HT, Lee BJ, Joo K, Park JY, Jang JH, So MK, Kim SJ.
    Genes (Basel); 2021 Oct 05; 12(10):. PubMed ID: 34680973
    [Abstract] [Full Text] [Related]

  • 16. Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
    Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP.
    Am J Med Genet A; 2019 Aug 05; 179(8):1498-1506. PubMed ID: 31090205
    [Abstract] [Full Text] [Related]

  • 17. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
    Wubben TJ, Branham KH, Besirli CG, Bohnsack BL.
    Ophthalmic Genet; 2018 Oct 05; 39(5):615-618. PubMed ID: 30130436
    [Abstract] [Full Text] [Related]

  • 18. Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
    Nixon TRW, Richards A, Towns LK, Fuller G, Abbs S, Alexander P, McNinch A, Sandford RN, Snead MP.
    Eur J Hum Genet; 2019 Mar 05; 27(3):369-377. PubMed ID: 30568244
    [Abstract] [Full Text] [Related]

  • 19. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
    Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R.
    Ann Hum Genet; 2020 Sep 05; 84(5):380-392. PubMed ID: 32427345
    [Abstract] [Full Text] [Related]

  • 20. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
    Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
    Orphanet J Rare Dis; 2022 Mar 03; 17(1):97. PubMed ID: 35241111
    [Abstract] [Full Text] [Related]

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