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 *

214 related articles for article (PubMed ID: 28971234)

  • 41. Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
    Iwasa Y; Moteki H; Hattori M; Sato R; Nishio SY; Takumi Y; Usami S
    Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():111S-7S. PubMed ID: 25780254
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Auditory dysfunction in type 2 Stickler Syndrome.
    Alexander P; Gomersall P; Stancel-Lewis J; Fincham GS; Poulson A; Richards A; McNinch A; Baguley DM; Snead M
    Eur Arch Otorhinolaryngol; 2021 Jul; 278(7):2261-2268. PubMed ID: 32901364
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. 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]  

  • 45. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
    Hanson-Kahn A; Li B; Cohn DH; Nickerson DA; Bamshad MJ; ; Hudgins L
    Am J Med Genet A; 2018 Dec; 176(12):2887-2891. PubMed ID: 30450842
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Vitreous phenotype: genotype correlation in Stickler syndrome.
    McLeod D; Black GC; Bishop PN
    Graefes Arch Clin Exp Ophthalmol; 2002 Jan; 240(1):63-5; author reply 66. PubMed ID: 11954783
    [No Abstract]   [Full Text] [Related]  

  • 47. Clinical and Molecular genetics of Stickler syndrome.
    Snead MP; Yates JR
    J Med Genet; 1999 May; 36(5):353-9. PubMed ID: 10353778
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Hearing impairment in Stickler syndrome.
    Admiraal RJ; Szymko YM; Griffith AJ; Brunner HG; Huygen PL
    Adv Otorhinolaryngol; 2002; 61():216-23. PubMed ID: 12408087
    [No Abstract]   [Full Text] [Related]  

  • 49. Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
    Acke FR; Swinnen FK; Malfait F; Dhooge IJ; De Leenheer EM
    Eur Arch Otorhinolaryngol; 2016 Oct; 273(10):3025-34. PubMed ID: 26786361
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
    Baker S; Booth C; Fillman C; Shapiro M; Blair MP; Hyland JC; Ala-Kokko L
    Am J Med Genet A; 2011 Jul; 155A(7):1668-72. PubMed ID: 21671392
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
    Majava M; Hoornaert KP; Bartholdi D; Bouma MC; Bouman K; Carrera M; Devriendt K; Hurst J; Kitsos G; Niedrist D; Petersen MB; Shears D; Stolte-Dijkstra I; Van Hagen JM; Ala-Kokko L; Männikkö M; Mortier GR
    Am J Med Genet A; 2007 Feb; 143A(3):258-64. PubMed ID: 17236192
    [TBL] [Abstract][Full Text] [Related]  

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

  • 53. Hereditary vitreopathy.
    Snead MP
    Eye (Lond); 1996; 10 ( Pt 6)():653-63. PubMed ID: 9091360
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.
    Lisi V; Guala A; Lopez A; Vitali M; Spadoni E; Olivieri C; Danesino C; Mottes M
    Genet Couns; 2002; 13(2):163-70. PubMed ID: 12150217
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Prevalence of mitral valve prolapse in Stickler syndrome.
    Ahmad N; Richards AJ; Murfett HC; Shapiro L; Scott JD; Yates JR; Norton J; Snead MP
    Am J Med Genet A; 2003 Jan; 116A(3):234-7. PubMed ID: 12503098
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
    Stanbury K; Stavinohova R; Pettitt L; Dixon C; Schofield EC; Mclaughlin B; Pettinen I; Lohi H; Ricketts SL; Oliver JA; Mellersh CS
    PLoS One; 2023; 18(12):e0295851. PubMed ID: 38153936
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.
    Schrauwen I; Sommen M; Claes C; Pinner J; Flaherty M; Collins F; Van Camp G
    Clin Genet; 2014 Sep; 86(3):282-6. PubMed ID: 23992033
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Stickler syndrome: an underdiagnosed disease. Report of a family.
    De Keyzer TH; De Veuster I; Smets RM
    Bull Soc Belge Ophtalmol; 2011; (318):45-9. PubMed ID: 22003765
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
    Faletra F; D'Adamo AP; Bruno I; Athanasakis E; Biskup S; Esposito L; Gasparini P
    Am J Med Genet A; 2014 Jan; 164A(1):42-7. PubMed ID: 24273071
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
    Sirko-Osadsa DA; Murray MA; Scott JA; Lavery MA; Warman ML; Robin NH
    J Pediatr; 1998 Feb; 132(2):368-71. PubMed ID: 9506662
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.