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 *

356 related articles for article (PubMed ID: 8826435)

  • 21. Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
    Leong HY; Abdul Azize NA; Chew HB; Keng WT; Thong MK; Mohd Khalid MKN; Hung LC; Mohamed Zainudin N; Ramlee A; Md Haniffa MA; Yakob Y; Ngu LH
    Orphanet J Rare Dis; 2019 Jun; 14(1):143. PubMed ID: 31200731
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
    Kim SM; Noh ES; Park JH; Park HD; Lee SY; Jang JH; Cho SY
    Ann Hum Genet; 2022 Nov; 86(6):361-368. PubMed ID: 36000290
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ; Montaño AM; Tomatsu S; Barrera LA
    FEBS J; 2010 Sep; 277(17):3608-19. PubMed ID: 20716181
    [TBL] [Abstract][Full Text] [Related]  

  • 24. GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
    Bidchol AM; Dalal A; Shah H; S S; Nampoothiri S; Kabra M; Gupta N; Danda S; Gowrishankar K; Phadke SR; Kapoor S; Kamate M; Verma IC; Puri RD; Sankar VH; Devi AR; Patil SJ; Ranganath P; Jain SJ; Agarwal M; Singh A; Mishra P; Tamhankar PM; Gopinath PM; Nagarajaram HA; Satyamoorthy K; Girisha KM
    Am J Med Genet A; 2014 Nov; 164A(11):2793-801. PubMed ID: 25252036
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
    Fukuda S; Tomatsu S; Masuno M; Ogawa T; Yamagishi A; Rezvi GM; Sukegawa K; Shimozawa N; Suzuki Y; Kondo N; Imaizumi K; Kuroki Y; Okabe T; Orii T
    Hum Mutat; 1996; 7(2):123-34. PubMed ID: 8829629
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
    Khedhiri S; Chkioua L; Elcioglu N; Laradi S; Miled A
    Pathol Biol (Paris); 2014 Feb; 62(1):38-40. PubMed ID: 24411403
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    Fukuda S; Tomatsu S; Masue M; Sukegawa K; Iwata H; Ogawa T; Nakashima Y; Hori T; Yamagishi A; Hanyu Y
    J Clin Invest; 1992 Sep; 90(3):1049-53. PubMed ID: 1522213
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
    Caciotti A; Tonin R; Mort M; Cooper DN; Gasperini S; Rigoldi M; Parini R; Deodato F; Taurisano R; Sibilio M; Parenti G; Guerrini R; Morrone A
    BMC Med Genet; 2018 Oct; 19(1):183. PubMed ID: 30305043
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.
    Khedhiri S; Chkioua L; Bouzidi H; Dandana A; Ferchichi S; Ben Turkia H; Miled A; Laradi S
    Pathol Biol (Paris); 2012 Jun; 60(3):190-2. PubMed ID: 22078177
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
    Peracha H; Sawamoto K; Averill L; Kecskemethy H; Theroux M; Thacker M; Nagao K; Pizarro C; Mackenzie W; Kobayashi H; Yamaguchi S; Suzuki Y; Orii K; Orii T; Fukao T; Tomatsu S
    Mol Genet Metab; 2018 Sep; 125(1-2):18-37. PubMed ID: 29779902
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Catarzi S; Giunti L; Papadia F; Gabrielli O; Guerrini R; Donati MA; Genuardi M; Morrone A
    Mol Genet Metab; 2012 Mar; 105(3):438-42. PubMed ID: 22178352
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
    Xie J; Pan J; Guo D; Pan W; Li R; Guo C; Du M; Jiang W; Guo Y
    Gene; 2019 Feb; 686():261-269. PubMed ID: 30458289
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
    Tomatsu S; Gutierrez M; Nishioka T; Yamada M; Yamada M; Tosaka Y; Grubb JH; Montaño AM; Vieira MB; Trandafirescu GG; Peña OM; Yamaguchi S; Orii KO; Orii T; Noguchi A; Laybauer L
    Hum Mol Genet; 2005 Nov; 14(22):3321-35. PubMed ID: 16219627
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
    Morris CP; Guo XH; Apostolou S; Hopwood JJ; Scott HS
    Genomics; 1994 Aug; 22(3):652-4. PubMed ID: 8001980
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
    Caciotti A; Tonin R; Rigoldi M; Ferri L; Catarzi S; Cavicchi C; Procopio E; Donati MA; Ficcadenti A; Fiumara A; Barone R; Garavelli L; Rocco MD; Filocamo M; Antuzzi D; Scarpa M; Mooney SD; Li B; Skouma A; Bianca S; Concolino D; Casalone R; Monti E; Pantaleo M; Giglio S; Guerrini R; Parini R; Morrone A
    Hum Mutat; 2015 Mar; 36(3):357-68. PubMed ID: 25545067
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical, biochemical and molecular findings in a two-generation Morquio A family.
    Tylki-Szymańska A; Czartoryska B; Bunge S; van Diggelen OP; Kleijer WJ; Poorthuis BJ; Huijmans JG; Górska D
    Clin Genet; 1998 May; 53(5):369-74. PubMed ID: 9660054
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].
    Zhao Y; Meng YX; Guo YB; Du ML; Ai Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):241-6. PubMed ID: 21644215
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.
    Kubaski F; Brusius-Facchin AC; Palhares HM; Balarin MA; Viapiana-Camelier M; Guidobono R; Burin MG; Giugliani R; Leistner-Segal S
    Gene; 2013 Mar; 517(1):112-5. PubMed ID: 23313879
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
    Ogawa T; Tomatsu S; Fukuda S; Yamagishi A; Rezvi GM; Sukegawa K; Kondo N; Suzuki Y; Shimozawa N; Orü T
    Hum Mol Genet; 1995 Mar; 4(3):341-9. PubMed ID: 7795586
    [TBL] [Abstract][Full Text] [Related]  

  • 40. N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
    Parkinson-Lawrence EJ; Muller VJ; Hopwood JJ; Brooks DA
    Clin Chim Acta; 2007 Feb; 377(1-2):88-91. PubMed ID: 17027703
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.