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 *

164 related articles for article (PubMed ID: 33598926)

  • 1. FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
    Schuch LA; Forstner M; Rapp CK; Li Y; Smith DEC; Mendes MI; Delhommel F; Sattler M; Emiralioğlu N; Taskiran EZ; Orhan D; Kiper N; Rohlfs M; Jeske T; Hastreiter M; Gerstlauer M; Torrent-Vernetta A; Moreno-Galdó A; Kammer B; Brasch F; Reu-Hofer S; Griese M
    Clin Genet; 2021 Jun; 99(6):789-801. PubMed ID: 33598926
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
    Zadjali F; Al-Yahyaee A; Al-Nabhani M; Al-Mubaihsi S; Gujjar A; Raniga S; Al-Maawali A
    Hum Mutat; 2018 Oct; 39(10):1355-1359. PubMed ID: 30014610
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
    Guo R; Chen Y; Hu X; Qi Z; Guo J; Li Y; Hao C
    BMC Med Genomics; 2023 Oct; 16(1):245. PubMed ID: 37833669
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
    Krenke K; Szczałuba K; Bielecka T; Rydzanicz M; Lange J; Koppolu A; Płoski R
    Clin Genet; 2019 Nov; 96(5):468-472. PubMed ID: 31355908
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
    Xu Z; Lo WS; Beck DB; Schuch LA; Oláhová M; Kopajtich R; Chong YE; Alston CL; Seidl E; Zhai L; Lau CF; Timchak D; LeDuc CA; Borczuk AC; Teich AF; Juusola J; Sofeso C; Müller C; Pierre G; Hilliard T; Turnpenny PD; Wagner M; Kappler M; Brasch F; Bouffard JP; Nangle LA; Yang XL; Zhang M; Taylor RW; Prokisch H; Griese M; Chung WK; Schimmel P
    Am J Hum Genet; 2018 Jul; 103(1):100-114. PubMed ID: 29979980
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
    Antonellis A; Oprescu SN; Griffin LB; Heider A; Amalfitano A; Innis JW
    Hum Mutat; 2018 Jun; 39(6):834-840. PubMed ID: 29573043
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
    Rips J; Meyer-Schuman R; Breuer O; Tsabari R; Shaag A; Revel-Vilk S; Reif S; Elpeleg O; Antonellis A; Harel T
    Eur J Med Genet; 2018 Oct; 61(10):616-620. PubMed ID: 29655802
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systemic inflammatory syndrome in children with FARSA deficiency.
    Charbit-Henrion F; Goguyer-Deschaumes R; Borensztajn K; Mirande M; Berthelet J; Rodrigues-Lima F; Khiat A; Frémond ML; Bader-Meunier B; Rodari MM; Seabra L; Rice GI; Legendre M; Drummond D; Berteloot L; Roux CJ; Boddaert N; Drabent P; Molina TJ; Lacaille F; Kossorotoff M; Cerf-Bensussan N; Parlato M; Hadchouel A
    Clin Genet; 2022 May; 101(5-6):552-558. PubMed ID: 35132614
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fatal systemic disorder caused by biallelic variants in FARSA.
    Kim SY; Ko S; Kang H; Kim MJ; Moon J; Lim BC; Kim KJ; Choi M; Choi HJ; Chae JH
    Orphanet J Rare Dis; 2022 Aug; 17(1):306. PubMed ID: 35918773
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
    Kuo ME; Theil AF; Kievit A; Malicdan MC; Introne WJ; Christian T; Verheijen FW; Smith DEC; Mendes MI; Hussaarts-Odijk L; van der Meijden E; van Slegtenhorst M; Wilke M; Vermeulen W; Raams A; Groden C; Shimada S; Meyer-Schuman R; Hou YM; Gahl WA; Antonellis A; Salomons GS; Mancini GMS
    Am J Hum Genet; 2019 Mar; 104(3):520-529. PubMed ID: 30824121
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
    Nowaczyk MJ; Huang L; Tarnopolsky M; Schwartzentruber J; Majewski J; Bulman DE; ; Hartley T; Boycott KM
    Am J Med Genet A; 2017 Jan; 173(1):126-134. PubMed ID: 27633801
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
    Okamoto N; Miya F; Tsunoda T; Kanemura Y; Saitoh S; Kato M; Yanagi K; Kaname T; Kosaki K
    Neurol Sci; 2022 Apr; 43(4):2765-2774. PubMed ID: 34585293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
    Oprescu SN; Chepa-Lotrea X; Takase R; Golas G; Markello TC; Adams DR; Toro C; Gropman AL; Hou YM; Malicdan MCV; Gahl WA; Tifft CJ; Antonellis A
    Hum Mutat; 2017 Oct; 38(10):1412-1420. PubMed ID: 28675565
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
    Averdunk L; Sticht H; Surowy H; Lüdecke HJ; Koch-Hogrebe M; Alsaif HS; Kahrizi K; Alzaidan H; Alawam BS; Tohary M; Kraus C; Endele S; Wadman E; Kaplan JD; Efthymiou S; Najmabadi H; Reis A; Alkuraya FS; Wieczorek D
    J Mol Med (Berl); 2021 Dec; 99(12):1755-1768. PubMed ID: 34536092
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
    Weterman MAJ; Kuo M; Kenter SB; Gordillo S; Karjosukarso DW; Takase R; Bronk M; Oprescu S; van Ruissen F; Witteveen RJW; Bienfait HME; Breuning M; Verhamme C; Hou YM; de Visser M; Antonellis A; Baas F
    Hum Mol Genet; 2018 Dec; 27(23):4036-4050. PubMed ID: 30124830
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
    Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
    Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
    [TBL] [Abstract][Full Text] [Related]  

  • 17. WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
    Bögershausen N; Krawczyk HE; Jamra RA; Lin SJ; Yigit G; Hüning I; Polo AM; Vona B; Huang K; Schmidt J; Altmüller J; Luppe J; Platzer K; Dörgeloh BB; Busche A; Biskup S; Mendes MI; Smith DEC; Salomons GS; Zibat A; Bültmann E; Nürnberg P; Spielmann M; Lemke JR; Li Y; Zenker M; Varshney GK; Hillen HS; Kratz CP; Wollnik B
    Hum Mutat; 2022 Oct; 43(10):1454-1471. PubMed ID: 35790048
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The role of tRNA synthetases in neurological and neuromuscular disorders.
    Boczonadi V; Jennings MJ; Horvath R
    FEBS Lett; 2018 Mar; 592(5):703-717. PubMed ID: 29288497
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
    Meyer-Schuman R; Antonellis A
    Hum Mol Genet; 2017 Oct; 26(R2):R114-R127. PubMed ID: 28633377
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.
    Sun Y; Hu G; Luo J; Fang D; Yu Y; Wang X; Chen J; Qiu W
    J Hum Genet; 2017 Jun; 62(6):647-651. PubMed ID: 28148924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.