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 *

222 related articles for article (PubMed ID: 34573280)

  • 1. Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
    Grossi A; Miano M; Lanciotti M; Fioredda F; Guardo D; Palmisani E; Terranova P; Santamaria G; Caroli F; Caorsi R; Volpi S; Gattorno M; Dufour C; Ceccherini I
    Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
    Elsink K; Huibers MMH; Hollink IHIM; Simons A; Zonneveld-Huijssoon E; van der Veken LT; Leavis HL; Henriet SSV; van Deuren M; van de Veerdonk FL; Potjewijd J; Berghuis D; Dalm VASH; Vermont CL; van de Ven AAJM; Lambeck AJA; Abbott KM; van Hagen PM; de Bree GJ; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM;
    Front Immunol; 2021; 12():780134. PubMed ID: 34992599
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
    El Hawary RE; Meshaal SS; Abd Elaziz DS; Alkady R; Lotfy S; Eldash A; Erfan A; Chohayeb EA; Saad MM; Darwish RK; Boutros JA; Galal NM; Elmarsafy AM
    J Clin Immunol; 2022 Jul; 42(5):1051-1070. PubMed ID: 35482138
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.
    Segura-Tudela A; López-Nevado M; Nieto-López C; García-Jiménez S; Díaz-Madroñero MJ; Delgado Á; Cabrera-Marante O; Pleguezuelo D; Morales P; Paz-Artal E; Gil-Niño J; Marco FM; Serrano C; González-Granado LI; Quesada-Espinosa JF; Allende LM
    J Clin Immunol; 2024 Feb; 44(3):61. PubMed ID: 38363452
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
    LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
    PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
    Pupavac M; Tian X; Chu J; Wang G; Feng Y; Chen S; Fenter R; Zhang VW; Wang J; Watkins D; Wong LJ; Rosenblatt DS
    Mol Genet Metab; 2016 Mar; 117(3):363-8. PubMed ID: 26827111
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.
    Kuzmenko N; Alexenko M; Mukhina A; Rodina Y; Fadeeva M; Pershin D; Kieva A; Raykina E; Maschan M; Novichkova G; Shcherbina A
    J Clin Immunol; 2024 Jul; 44(7):165. PubMed ID: 39052144
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
    Barbosa-Gouveia S; Vázquez-Mosquera ME; González-Vioque E; Álvarez JV; Chans R; Laranjeira F; Martins E; Ferreira AC; Avila-Alvarez A; Couce ML
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440436
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.
    Karimi E; Mahmoudian F; Reyes SOL; Bargir UA; Madkaikar M; Artac H; Sabzevari A; Lu N; Azizi G; Abolhassani H
    Mol Immunol; 2021 Sep; 137():57-66. PubMed ID: 34216999
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.
    Wan R; Schieck M; Caballero-Oteyza A; Hofmann W; Cochino AV; Shcherbina A; Sherkat R; Wache-Mainier C; Fernandez A; Sultan M; Illig T; Grimbacher B; Proietti M; Steinemann D
    J Clin Immunol; 2022 Jul; 42(5):1083-1092. PubMed ID: 35486341
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).
    Peng XP; Al-Ddafari MS; Caballero-Oteyza A; El Mezouar C; Mrovecova P; Dib SE; Massen Z; Smahi MC; Faiza A; Hassaïne RT; Lefranc G; Aribi M; Grimbacher B
    Clin Immunol; 2023 Nov; 256():109758. PubMed ID: 37678716
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Current genetic diagnostics in inborn errors of immunity.
    von Hardenberg S; Klefenz I; Steinemann D; Di Donato N; Baumann U; Auber B; Klemann C
    Front Pediatr; 2024; 12():1279112. PubMed ID: 38659694
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic Mosaicism as a Cause of Inborn Errors of Immunity.
    Aluri J; Cooper MA
    J Clin Immunol; 2021 May; 41(4):718-728. PubMed ID: 33864184
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
    Engelbrecht C; Urban M; Schoeman M; Paarwater B; van Coller A; Abraham DR; Cornelissen H; Glashoff R; Esser M; Möller M; Kinnear C; Glanzmann B
    Front Immunol; 2021; 12():665621. PubMed ID: 34093558
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
    Ghosh A; Schlecht H; Heptinstall LE; Bassett JK; Cartwright E; Bhaskar SS; Urquhart J; Broomfield A; Morris AA; Jameson E; Schwahn BC; Walter JH; Douzgou S; Murphy H; Hendriksz C; Sharma R; Wilcox G; Crushell E; Monavari AA; Martin R; Doolan A; Senniappan S; Ramsden SC; Jones SA; Banka S
    Arch Dis Child; 2017 Nov; 102(11):1019-1029. PubMed ID: 28468868
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing.
    van de Burgt N; van Koningsbruggen S; Behrens L; Leibold N; Martinez-Martinez P; Mannens M; van Amelsvoort T
    J Psychiatr Res; 2021 Jun; 138():125-129. PubMed ID: 33848968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Next-generation sequencing for inborn errors of immunity.
    Lee K; Abraham RS
    Hum Immunol; 2021 Nov; 82(11):871-882. PubMed ID: 33715910
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
    Okano T; Imai K; Naruto T; Okada S; Yamashita M; Yeh TW; Ono S; Tanaka K; Okamoto K; Tanita K; Matsumoto K; Toyofuku E; Kumaki-Matsumoto E; Okamura M; Ueno H; Ogawa S; Ohara O; Takagi M; Kanegane H; Morio T
    J Clin Immunol; 2020 Jul; 40(5):729-740. PubMed ID: 32506361
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
    Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
    Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic screening in a Brazilian cohort with inborn errors of immunity.
    Ferreira CS; Francisco Junior RDS; Gerber AL; Guimarães APC; de Carvalho FAA; Dos Reis BCS; Pinto-Mariz F; de Souza MS; de Vasconcelos ZFM; Goudouris ES; Vasconcelos ATR
    BMC Genom Data; 2023 Aug; 24(1):47. PubMed ID: 37592284
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.