These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

285 related articles for article (PubMed ID: 32578940)

  • 1. 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; 8(9):e1354. PubMed ID: 32578940
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 11(8):. PubMed ID: 32756486
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
    Richards AJ; Fincham GS; McNinch A; Hill D; Poulson AV; Castle B; Lees MM; Moore AT; Scott JD; Snead MP
    J Med Genet; 2013 Nov; 50(11):765-71. PubMed ID: 23922384
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 84(5):380-392. PubMed ID: 32427345
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 12(10):. PubMed ID: 34680973
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 22():697-704. PubMed ID: 27390512
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 179(8):1498-1506. PubMed ID: 31090205
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal recessive Stickler syndrome associated with homozygous mutations in the
    Kjellström U; Martell S; Brobeck C; Andréasson S
    Ophthalmic Genet; 2021 Apr; 42(2):161-169. PubMed ID: 33356723
    [No Abstract]   [Full Text] [Related]  

  • 10. 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; 9(5):e1628. PubMed ID: 33951325
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic characterization of patients with early-onset high myopia due to mutations in
    Zhou L; Xiao X; Li S; Jia X; Wang P; Sun W; Zhang F; Li J; Li T; Zhang Q
    Mol Vis; 2018; 24():560-573. PubMed ID: 30181686
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
    Boysen KB; La Cour M; Kessel L
    Ophthalmic Genet; 2020 Jun; 41(3):223-234. PubMed ID: 32316871
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance.
    Acke FR; Dhooge IJ; Malfait F; De Leenheer EM; De Pauw GA
    J Craniomaxillofac Surg; 2016 Jul; 44(7):848-53. PubMed ID: 27193475
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
    Vijzelaar R; Waller S; Errami A; Donaldson A; Lourenco T; Rodrigues M; McConnell V; Fincham G; Snead M; Richards A
    BMC Med Genet; 2013 Apr; 14():48. PubMed ID: 23621912
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. A novel deep intronic COL2A1 mutation in a family with early-onset high myopia/ocular-only Stickler syndrome.
    Sun W; Xiao X; Li S; Jia X; Zhang Q
    Ophthalmic Physiol Opt; 2020 May; 40(3):281-288. PubMed ID: 32196734
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
    Markova T; Sparber P; Borovikov A; Nagornova T; Dadali E
    Mol Genet Genomic Med; 2021 Mar; 9(3):e1620. PubMed ID: 33570243
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
    Chan TK; Alkaabi MK; ElBarky AM; El-Hattab AW
    Clin Genet; 2019 Feb; 95(2):325-328. PubMed ID: 30362103
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.