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Journal Abstract Search

182 related items for PubMed ID: 35241111

  • 21. Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
    Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.
    J Med Genet; 2019 Sep; 56(9):629-638. PubMed ID: 31129566
    [Abstract] [Full Text] [Related]

  • 22. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.
    Janssen EJM, Stegmann APA, Stumpel CTRM.
    Clin Dysmorphol; 2021 Jan; 30(1):58-61. PubMed ID: 32897902
    [No Abstract] [Full Text] [Related]

  • 23. 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; 27(3):369-377. PubMed ID: 30568244
    [Abstract] [Full Text] [Related]

  • 24. 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 Mar; 22():697-704. PubMed ID: 27390512
    [Abstract] [Full Text] [Related]

  • 25. 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; 8(9):e1353. PubMed ID: 32558342
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
    Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S.
    Am J Hum Genet; 2006 Sep 26; 79(3):449-57. PubMed ID: 16909383
    [Abstract] [Full Text] [Related]

  • 28. Hearing impairment in Stickler syndrome: a systematic review.
    Acke FR, Dhooge IJ, Malfait F, De Leenheer EM.
    Orphanet J Rare Dis; 2012 Oct 30; 7():84. PubMed ID: 23110709
    [Abstract] [Full Text] [Related]

  • 29. Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
    Nash BM, Watson CJG, Hughes E, Hou AL, Loi TH, Bennetts B, Jelovic D, Polkinghorne PJ, Gorbatov M, Grigg JR, Vincent AL, Jamieson RV.
    Eur J Hum Genet; 2021 May 30; 29(5):881-886. PubMed ID: 33633367
    [Abstract] [Full Text] [Related]

  • 30. Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea.
    Yoon JM, Jang MA, Ki CS, Kim SJ.
    Ann Lab Med; 2016 Mar 30; 36(2):166-9. PubMed ID: 26709265
    [Abstract] [Full Text] [Related]

  • 31. Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.
    Boysen KB, Tümer Z, Bach-Holm D, Bisgaard AM, Kessel L.
    Ophthalmic Genet; 2024 Jun 30; 45(3):313-318. PubMed ID: 38299479
    [Abstract] [Full Text] [Related]

  • 32.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mortier G.
    ; 1993 Jun 30. PubMed ID: 20301479
    [Abstract] [Full Text] [Related]

  • 33. Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
    Zhou L, Xiao X, Li S, Jia X, Wang P, Sun W, Zhang F, Li J, Li T, Zhang Q.
    Mol Vis; 2018 Jun 30; 24():560-573. PubMed ID: 30181686
    [Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35. Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.
    Wang DD, Gao FJ, Hu FY, Zhang SH, Xu P, Wu JH.
    BMC Med Genet; 2020 Feb 10; 21(1):27. PubMed ID: 32039712
    [Abstract] [Full Text] [Related]

  • 36. Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype.
    Breazzano MP, Tsang SH, Tezel TH.
    Ophthalmol Retina; 2020 May 10; 4(5):522. PubMed ID: 32381255
    [No Abstract] [Full Text] [Related]

  • 37. Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.
    Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.
    Mol Vis; 2013 May 10; 19():759-66. PubMed ID: 23592912
    [Abstract] [Full Text] [Related]

  • 38. 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]

  • 39. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
    Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.
    Eur J Hum Genet; 2016 Jul 03; 24(7):992-1000. PubMed ID: 26626311
    [Abstract] [Full Text] [Related]

  • 40. Pregnancy management in a patient with stickler syndrome.
    Gomez J, Rice SM, Makhamreh MM, Al-Kouatly HB.
    Mol Genet Genomic Med; 2020 Aug 03; 8(8):e1311. PubMed ID: 32478486
    [Abstract] [Full Text] [Related]

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