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 *

104 related articles for article (PubMed ID: 34620555)

  • 21. Genotype-phenotype correlation and interaction of 4q25, 15q14 and
    Liu J; Zhang R; Sun L; Zheng Y; Chen S; Chen SL; Xu Y; Pang CP; Zhang M; Ng TK
    Br J Ophthalmol; 2021 Jun; 105(6):869-877. PubMed ID: 31604699
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
    Yatsuka Y; Kishita Y; Formosa LE; Shimura M; Nozaki F; Fujii T; Nitta KR; Ohtake A; Murayama K; Ryan MT; Okazaki Y
    Clin Genet; 2020 Aug; 98(2):155-165. PubMed ID: 32385911
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
    Harel T; Yoon WH; Garone C; Gu S; Coban-Akdemir Z; Eldomery MK; Posey JE; Jhangiani SN; Rosenfeld JA; Cho MT; Fox S; Withers M; Brooks SM; Chiang T; Duraine L; Erdin S; Yuan B; Shao Y; Moussallem E; Lamperti C; Donati MA; Smith JD; McLaughlin HM; Eng CM; Walkiewicz M; Xia F; Pippucci T; Magini P; Seri M; Zeviani M; Hirano M; Hunter JV; Srour M; Zanigni S; Lewis RA; Muzny DM; Lotze TE; Boerwinkle E; ; ; Gibbs RA; Hickey SE; Graham BH; Yang Y; Buhas D; Martin DM; Potocki L; Graziano C; Bellen HJ; Lupski JR
    Am J Hum Genet; 2016 Oct; 99(4):831-845. PubMed ID: 27640307
    [TBL] [Abstract][Full Text] [Related]  

  • 24. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
    Donkervoort S; Sabouny R; Yun P; Gauquelin L; Chao KR; Hu Y; Al Khatib I; Töpf A; Mohassel P; Cummings BB; Kaur R; Saade D; Moore SA; Waddell LB; Farrar MA; Goodrich JK; Uapinyoying P; Chan SHS; Javed A; Leach ME; Karachunski P; Dalton J; Medne L; Harper A; Thompson C; Thiffault I; Specht S; Lamont RE; Saunders C; Racher H; Bernier FP; Mowat D; Witting N; Vissing J; Hanson R; Coffman KA; Hainlen M; Parboosingh JS; Carnevale A; Yoon G; Schnur RE; ; Boycott KM; Mah JK; Straub V; Foley AR; Innes AM; Bönnemann CG; Shutt TE
    Acta Neuropathol; 2019 Dec; 138(6):1013-1031. PubMed ID: 31463572
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.
    van der Lee R; Szklarczyk R; Smeitink J; Smeets HJ; Huynen MA; Vogel R
    BMC Genomics; 2015 Sep; 16():691. PubMed ID: 26369791
    [TBL] [Abstract][Full Text] [Related]  

  • 26.
    Thompson K; Mai N; Oláhová M; Scialó F; Formosa LE; Stroud DA; Garrett M; Lax NZ; Robertson FM; Jou C; Nascimento A; Ortez C; Jimenez-Mallebrera C; Hardy SA; He L; Brown GK; Marttinen P; McFarland R; Sanz A; Battersby BJ; Bonnen PE; Ryan MT; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW
    EMBO Mol Med; 2018 Nov; 10(11):. PubMed ID: 30201738
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The genotypic and phenotypic spectrum of MTO1 deficiency.
    O'Byrne JJ; Tarailo-Graovac M; Ghani A; Champion M; Deshpande C; Dursun A; Ozgul RK; Freisinger P; Garber I; Haack TB; Horvath R; Barić I; Husain RA; Kluijtmans LAJ; Kotzaeridou U; Morris AA; Ross CJ; Santra S; Smeitink J; Tarnopolsky M; Wortmann SB; Mayr JA; Brunner-Krainz M; Prokisch H; Wasserman WW; Wevers RA; Engelke UF; Rodenburg RJ; Ting TW; McFarland R; Taylor RW; Salvarinova R; van Karnebeek CDM
    Mol Genet Metab; 2018 Jan; 123(1):28-42. PubMed ID: 29331171
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutations in
    Reyes A; Melchionda L; Burlina A; Robinson AJ; Ghezzi D; Zeviani M
    EMBO Mol Med; 2018 Oct; 10(10):. PubMed ID: 30190335
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mitochondrial disorders due to nuclear OXPHOS gene defects.
    Ugalde C; Morán M; Blázquez A; Arenas J; Martín MA
    Adv Exp Med Biol; 2009; 652():85-116. PubMed ID: 20225021
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
    Lake NJ; Webb BD; Stroud DA; Richman TR; Ruzzenente B; Compton AG; Mountford HS; Pulman J; Zangarelli C; Rio M; Boddaert N; Assouline Z; Sherpa MD; Schadt EE; Houten SM; Byrnes J; McCormick EM; Zolkipli-Cunningham Z; Haude K; Zhang Z; Retterer K; Bai R; Calvo SE; Mootha VK; Christodoulou J; Rötig A; Filipovska A; Cristian I; Falk MJ; Metodiev MD; Thorburn DR
    Am J Hum Genet; 2017 Aug; 101(2):239-254. PubMed ID: 28777931
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways.
    Tang JX; Thompson K; Taylor RW; Oláhová M
    Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32481479
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
    Sheffer R; Douiev L; Edvardson S; Shaag A; Tamimi K; Soiferman D; Meiner V; Saada A
    Am J Med Genet A; 2016 Jun; 170(6):1603-7. PubMed ID: 26992161
    [TBL] [Abstract][Full Text] [Related]  

  • 33. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
    Jobling RK; Assoum M; Gakh O; Blaser S; Raiman JA; Mignot C; Roze E; Dürr A; Brice A; Lévy N; Prasad C; Paton T; Paterson AD; Roslin NM; Marshall CR; Desvignes JP; Roëckel-Trevisiol N; Scherer SW; Rouleau GA; Mégarbané A; Isaya G; Delague V; Yoon G
    Brain; 2015 Jun; 138(Pt 6):1505-17. PubMed ID: 25808372
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
    Tucker EJ; Wanschers BF; Szklarczyk R; Mountford HS; Wijeyeratne XW; van den Brand MA; Leenders AM; Rodenburg RJ; Reljić B; Compton AG; Frazier AE; Bruno DL; Christodoulou J; Endo H; Ryan MT; Nijtmans LG; Huynen MA; Thorburn DR
    PLoS Genet; 2013; 9(12):e1004034. PubMed ID: 24385928
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
    Oláhová M; Thompson K; Hardy SA; Barbosa IA; Besse A; Anagnostou ME; White K; Davey T; Simpson MA; Champion M; Enns G; Schelley S; Lightowlers RN; Chrzanowska-Lightowlers ZM; McFarland R; Deshpande C; Bonnen PE; Taylor RW
    J Inherit Metab Dis; 2017 Jan; 40(1):121-130. PubMed ID: 27696117
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
    Cafournet C; Zanin S; Guimier A; Hully M; Assouline Z; Barcia G; de Lonlay P; Steffann J; Munnich A; Bonnefont JP; Rötig A; Ruzzenente B; Metodiev MD
    Life (Basel); 2023 Feb; 13(2):. PubMed ID: 36836802
    [TBL] [Abstract][Full Text] [Related]  

  • 38. MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
    Baertling F; Haack TB; Rodenburg RJ; Schaper J; Seibt A; Strom TM; Meitinger T; Mayatepek E; Hadzik B; Selcan G; Prokisch H; Distelmaier F
    Neurogenetics; 2015 Jul; 16(3):237-40. PubMed ID: 25663021
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
    Barcia G; Rio M; Assouline Z; Zangarelli C; Roux CJ; de Lonlay P; Steffann J; Desguerre I; Munnich A; Bonnefont JP; Boddaert N; Rötig A; Metodiev MD; Ruzzenente B
    Eur J Hum Genet; 2021 Mar; 29(3):533-538. PubMed ID: 33168986
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
    Glasgow RIC; Thompson K; Barbosa IA; He L; Alston CL; Deshpande C; Simpson MA; Morris AAM; Neu A; Löbel U; Hall J; Prokisch H; Haack TB; Hempel M; McFarland R; Taylor RW
    Neurogenetics; 2017 Dec; 18(4):227-235. PubMed ID: 29075935
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.