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)

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

  • 22. Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
    Khalifa O; Imtiaz F; Ramzan K; Allam R; Hemidan AA; Faqeih E; Abuharb G; Balobaid A; Sakati N; Owain MA
    Am J Med Genet A; 2014 Oct; 164A(10):2601-6. PubMed ID: 25073711
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
    Richards AJ; McNinch A; Martin H; Oakhill K; Rai H; Waller S; Treacy B; Whittaker J; Meredith S; Poulson A; Snead MP
    Hum Mutat; 2010 Jun; 31(6):E1461-71. PubMed ID: 20513134
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review.
    Carroll C; Papaioannou D; Rees A; Kaltenthaler E
    Health Technol Assess; 2011 Apr; 15(16):iii-xiv, 1-62. PubMed ID: 21466760
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. 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; 19(1):155. PubMed ID: 30170566
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
    Sakka R; Kerkeni E; Chaabouni M; Chioukh FZ; Ben Amor S; M'rad R; Ben Yahia S; Chaabouni H; Monastiri K
    Tunis Med; 2015 Mar; 93(3):170-4. PubMed ID: 26367406
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. Potential blindness in children of patients with hereditary bone disease.
    Kheir V; Munier FL; Aubry-Rozier B; Schorderet DF
    Osteoporos Int; 2016 Feb; 27(2):841-4. PubMed ID: 26243358
    [TBL] [Abstract][Full Text] [Related]  

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

  • 33. 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]  

  • 34. 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; 79(3):449-57. PubMed ID: 16909383
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
    van Beelen E; Leijendeckers JM; Huygen PL; Admiraal RJ; Hoefsloot LH; Lichtenbelt KD; Stöbe L; Pennings RJ; Leuwer R; Snik AF; Kunst HP
    Hear Res; 2012 Sep; 291(1-2):15-23. PubMed ID: 22796475
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
    Richards AJ; Yates JR; Williams R; Payne SJ; Pope FM; Scott JD; Snead MP
    Hum Mol Genet; 1996 Sep; 5(9):1339-43. PubMed ID: 8872475
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
    Hufnagel SB; Weaver KN; Hufnagel RB; Bader PI; Schorry EK; Hopkin RJ
    Am J Med Genet A; 2014 Oct; 164A(10):2607-12. PubMed ID: 25091507
    [TBL] [Abstract][Full Text] [Related]  

  • 38. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
    Richards AJ; Martin S; Yates JR; Scott JD; Baguley DM; Pope FM; Snead MP
    Br J Ophthalmol; 2000 Apr; 84(4):364-71. PubMed ID: 10729292
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Correlation of linkage data with phenotype in eight families with Stickler syndrome.
    Wilkin DJ; Mortier GR; Johnson CL; Jones MC; de Paepe A; Shohat M; Wildin RS; Falk RE; Cohn DH
    Am J Med Genet; 1998 Nov; 80(2):121-7. PubMed ID: 9805127
    [TBL] [Abstract][Full Text] [Related]  

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