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 *

153 related articles for article (PubMed ID: 37091798)

  • 1. Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
    Gul R; Firasat S; Schubert M; Ullah A; Peña E; Thuesen ACB; Hussain M; Staeger FF; Gjesing AP; Albrechtsen A; Hansen T
    Front Genet; 2023; 14():1128850. PubMed ID: 37091798
    [No Abstract]   [Full Text] [Related]  

  • 2. Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
    Gul R; Firasat S; Schubert M; Ullah A; Peña E; Thuesen ACB; Gjesing AP; Hussain M; Tufail M; Saqib M; Afshan K; Hansen T
    Front Genet; 2023; 14():1254909. PubMed ID: 37772257
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.
    Zabihi R; Zamani M; Aminzadeh M; Chamanrou N; Kiani FZ; Seifi T; Zeighami J; Yadegari T; Sedaghat A; Saberi A; Hamid M; Shariati G; Galehdari H
    Front Genet; 2024; 15():1343094. PubMed ID: 38425718
    [No Abstract]   [Full Text] [Related]  

  • 5. Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
    Ghafoor S; Silveira KDC; Qamar R; Azam M; Kannu P
    Genes (Basel); 2022 Sep; 13(10):. PubMed ID: 36292628
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
    Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
    J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
    Agrawal N; Verma G; Saxena D; Kabra M; Gupta N; Mandal K; Moirangthem A; Sheth J; Puri RD; Bijarnia-Mahay S; Kapoor S; Danda S; H SV; Datar CA; Ranganath P; Shukla A; Dalal A; Srivastava P; Devi RR; Phadke SR
    Eur J Med Genet; 2022 Mar; 65(3):104447. PubMed ID: 35144014
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.
    Yıldız Y; Koşukcu C; Aygün D; Akçaboy M; Öztek Çelebi FZ; Taşcı Yıldız Y; Şahin G; Aytekin C; Yüksel D; Lay İ; Özgül RK; Dursun A
    Clin Genet; 2021 Sep; 100(3):308-317. PubMed ID: 34013567
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
    Zanetti A; D'Avanzo F; Rigon L; Rampazzo A; Concolino D; Barone R; Volpi N; Santoro L; Lualdi S; Bertola F; Scarpa M; Tomanin R
    Eur J Pediatr; 2019 May; 178(5):739-753. PubMed ID: 30809705
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
    Ye J; Lei HL; Zhang HW; Qiu WJ; Han LS; Wang Y; Li XY; Gu XF
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):414-9. PubMed ID: 24120057
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15.
    De Filippis C; Napoli B; Rigon L; Guarato G; Bauer R; Tomanin R; Orso G
    Cells; 2021 Dec; 11(1):. PubMed ID: 35011691
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.
    Faller KME; Ridyard AE; Gutierrez-Quintana R; Rupp A; Kun-Rodrigues C; Orme T; Tylee KL; Church HJ; Guerreiro R; Bras J
    J Vet Intern Med; 2020 Sep; 34(5):1813-1824. PubMed ID: 32785987
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).
    Zubaida B; Batool H; Cheema HA; Waheed N; Naeem M
    Hum Hered; 2019; 84(6):279-286. PubMed ID: 33075783
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
    Wang N; Zhang Y; Gedvilaite E; Loh JW; Lin T; Liu X; Liu CG; Kumar D; Donnelly R; Raymond K; Schuchman EH; Sleat DE; Lobel P; Xing J
    Hum Mutat; 2017 Nov; 38(11):1491-1499. PubMed ID: 28703315
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.