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 *

143 related articles for article (PubMed ID: 35005816)

  • 1. Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
    Ghaffari SR; Rafati M; Shadnoush M; Pourbabaee S; Aghighi M; Mirab Samiee S; Kermanchi J; Alaei MR; Salehpour S; Amirkashani D; Setoodeh A; Sarkhail P; Badv RS; Aminzadeh M; Shiva S; Eshraghi P; Moravej H; Hashemipour M; Rostampour N; Hamidieh AA; Shamsian BS; Shams S; Zamanfar D; Ebrahimi A; Otadi A; Tara SZ; Barati Z; Fakhri L; Hoseini A; Amiri H; Ramandi S; Mostofinezhad N; Kani ZP; Mohammadyari E; Khosravi M; Saadati M; Hoseininasab F; Khorram Khorshid HR; Modaberisaber Y
    Hum Mutat; 2022 Apr; 43(4):e1-e23. PubMed ID: 35005816
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Estimated birth prevalence of mucopolysaccharidoses in Brazil.
    Federhen A; Pasqualim G; de Freitas TF; Gonzalez EA; Trapp F; Matte U; Giugliani R
    Am J Med Genet A; 2020 Mar; 182(3):469-483. PubMed ID: 31926052
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
    Aminzadeh M; Malekpour N; Ghandil P
    Gene; 2019 Jul; 706():1-5. PubMed ID: 31009684
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
    Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
    Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
    [TBL] [Abstract][Full Text] [Related]  

  • 5. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
    Jahic A; Günther S; Muschol N; Fossøy Stadheim B; Braaten Ø; Kjensli Hyldebrandt H; Kuiper GA; Tylee K; Wijburg FA; Beetz C
    Mol Genet Genomic Med; 2019 Sep; 7(9):e00615. PubMed ID: 31319022
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing.
    Fang X; Zhu C; Zhu X; Feng Y; Jiao Z; Duan H; Kong X; Liu N
    Clin Chim Acta; 2022 Jan; 524():194-200. PubMed ID: 34813777
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
    Jafaryazdi R; Shams S; Isaian A; Setoodeh A; Teimourian S
    Mol Biol Rep; 2019 Jun; 46(3):3417-3426. PubMed ID: 30982216
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.
    Yassaee VR; Hashemi-Gorji F; Miryounesi M; Rezayi A; Ravesh Z; Yassaee F; Salehpour S
    Clin Chim Acta; 2017 Nov; 474():88-95. PubMed ID: 28844463
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
    Chuang CK; Tu YR; Lee CL; Lo YT; Chang YH; Liu MY; Liu HY; Chen HJ; Kao SM; Wang LY; Ho HJ; Lin HY; Lin SP
    Int J Mol Sci; 2022 Sep; 23(17):. PubMed ID: 36077388
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.
    Murgasova L; Jurovcik M; Jesina P; Malinova V; Bloomfield M; Zeman J; Magner M
    Int J Pediatr Otorhinolaryngol; 2020 Aug; 135():110137. PubMed ID: 32502916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
    Uttarilli A; Ranganath P; Jain SJ; Prasad CK; Sinha A; Verma IC; Phadke SR; Puri RD; Danda S; Muranjan MN; Jevalikar G; Nagarajaram HA; Dalal AB
    Indian J Med Res; 2015 Oct; 142(4):414-25. PubMed ID: 26609033
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
    Khedhiri S; Chkioua L; Bouzidi H; Dandana A; Ben Turkia H; Miled A; Laradi S
    Pathol Biol (Paris); 2009 Jul; 57(5):392-7. PubMed ID: 18584975
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients].
    Khedhiri S; Chkioua L; Ferchichi S; Bouzidi H; Haj Khelil A; Ben Mansour R; Kassab A; M'dallah S; Chaabouni M; Jrad T; Ben Chibani J; Miled A; Laradi S
    Ann Biol Clin (Paris); 2007; 65(1):59-63. PubMed ID: 17264040
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Worldwide distribution of common IDUA pathogenic variants.
    Poletto E; Pasqualim G; Giugliani R; Matte U; Baldo G
    Clin Genet; 2018 Jul; 94(1):95-102. PubMed ID: 29393969
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
    Pollard LM; Jones JR; Wood TC
    J Inherit Metab Dis; 2013 Mar; 36(2):179-87. PubMed ID: 22976768
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
    Peretz RH; Flora CH; Adams DJ
    Am J Med Genet A; 2020 Jun; 182(6):1491-1495. PubMed ID: 32216080
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Newborn screening of mucopolysaccharidoses: past, present, and future.
    Arunkumar N; Langan TJ; Stapleton M; Kubaski F; Mason RW; Singh R; Kobayashi H; Yamaguchi S; Suzuki Y; Orii K; Orii T; Fukao T; Tomatsu S
    J Hum Genet; 2020 Jul; 65(7):557-567. PubMed ID: 32277174
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
    Nouri N; Nouri N; Aryani O; Kamalidehghan B; Houshmand M
    Iran Biomed J; 2012; 16(3):169-71. PubMed ID: 23023219
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
    Uttarilli A; Ranganath P; Matta D; Md Nurul Jain J; Prasad K; Babu AS; Girisha KM; Verma IC; Phadke SR; Mandal K; Puri RD; Aggarwal S; Danda S; Sankar VH; Kapoor S; Bhat M; Gowrishankar K; Hasan AQ; Nair M; Nampoothiri S; Dalal A
    Clin Genet; 2016 Dec; 90(6):496-508. PubMed ID: 27146977
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
    Chuang CK; Lin HY; Wang TJ; Huang YH; Chan MJ; Liao HC; Lo YT; Wang LY; Tu RY; Fang YY; Chen TL; Ho HC; Chiang CC; Lin SP
    Orphanet J Rare Dis; 2018 May; 13(1):84. PubMed ID: 29801497
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.