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 *

123 related articles for article (PubMed ID: 25604853)

  • 41. [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA].
    Stratilová L; Zeman J; Hansíková H; Houstĕk J; Hermanská J; Dudková Z; Konrádová V; Hůlková H; Elleder M
    Cas Lek Cesk; 1998 Jul; 137(14):430-3. PubMed ID: 9748738
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
    Okhuijsen-Kroes EJ; Trijbels JM; Sengers RC; Mariman E; van den Heuvel LP; Wendel U; Koch G; Smeitink JA
    Neuropediatrics; 2001 Aug; 32(4):183-90. PubMed ID: 11571698
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.
    Bakker HD; Scholte HR; Van den Bogert C; Ruitenbeek W; Jeneson JA; Wanders RJ; Abeling NG; Dorland B; Sengers RC; Van Gennip AH
    Pediatr Res; 1993 Apr; 33(4 Pt 1):412-7. PubMed ID: 8479824
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Lactic acidosis in a newborn with adrenal calcifications.
    Zecic A; Smet JE; De Praeter CM; Vanhaesebrouck P; Viscomi C; Van Den Broecke C; De Paepe B; Lohse P; Martin JJ; Jackson JG; Campbell CR; De Meirleir LJ; Zeviani M; Seneca SH; Lissens W; Van Coster RN
    Pediatr Res; 2009 Sep; 66(3):317-22. PubMed ID: 19581830
    [TBL] [Abstract][Full Text] [Related]  

  • 45. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
    Carrozzo R; Dionisi-Vici C; Steuerwald U; Lucioli S; Deodato F; Di Giandomenico S; Bertini E; Franke B; Kluijtmans LA; Meschini MC; Rizzo C; Piemonte F; Rodenburg R; Santer R; Santorelli FM; van Rooij A; Vermunt-de Koning D; Morava E; Wevers RA
    Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
    De Paepe B; Smet J; Lammens M; Seneca S; Martin JJ; De Bleecker J; De Meirleir L; Lissens W; Van Coster R
    J Clin Pathol; 2009 Feb; 62(2):172-6. PubMed ID: 19181635
    [TBL] [Abstract][Full Text] [Related]  

  • 47. EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
    Danhauser K; Haack TB; Alhaddad B; Melcher M; Seibt A; Strom TM; Meitinger T; Klee D; Mayatepek E; Prokisch H; Distelmaier F
    Metab Brain Dis; 2016 Jun; 31(3):717-21. PubMed ID: 26780086
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.
    Van Hove JL; Shanske S; Ciacci F; Ballinger S; Shoffner JS; Wallace DC; Hanioka T; Folkers K; Bossen EH; Kussin PS
    Am J Med Genet; 1994 Jun; 51(2):114-20. PubMed ID: 8092186
    [TBL] [Abstract][Full Text] [Related]  

  • 49. COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.
    Bursle C; Narendra A; Chuk R; Cardinal J; Justo R; Lewis B; Coman D
    JIMD Rep; 2017; 34():105-109. PubMed ID: 27815843
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
    Tabebi M; Mkaouar-Rebai E; Mnif M; Kallabi F; Ben Mahmoud A; Ben Saad W; Charfi N; Keskes-Ammar L; Kamoun H; Abid M; Fakhfakh F
    Biochem Biophys Res Commun; 2015 Apr; 459(3):353-60. PubMed ID: 25701779
    [TBL] [Abstract][Full Text] [Related]  

  • 51. A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.
    Pronicki M; Kowalski P; Piekutowska-Abramczuk D; Taybert J; Karkucinska-Wieckowska A; Szymanska-Debinska T; Karczmarewicz E; Pajdowska M; Migdal M; Milewska-Bobula B; Sykut-Cegielska J; Popowska E
    Eur J Paediatr Neurol; 2010 May; 14(3):253-60. PubMed ID: 19879173
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
    Kremer LS; L'hermitte-Stead C; Lesimple P; Gilleron M; Filaut S; Jardel C; Haack TB; Strom TM; Meitinger T; Azzouz H; Tebib N; Ogier de Baulny H; Touati G; Prokisch H; Lombès A
    J Hepatol; 2016 Aug; 65(2):377-85. PubMed ID: 27151179
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Biallelic variants in
    Thompson K; Bianchi L; Rastelli F; Piron-Prunier F; Ayciriex S; Besmond C; Hubert L; Barth M; Barbosa IA; Deshpande C; Chitre M; Mehta SG; Wever EJM; Marcorelles P; Donkervoort S; Saade D; Bönnemann CG; Chao KR; Cai C; Iannaccone ST; Dean AF; McFarland R; Vaz FM; Delahodde A; Taylor RW; Rötig A
    HGG Adv; 2022 Apr; 3(2):100097. PubMed ID: 35321494
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
    Joshi M; Anselm I; Shi J; Bale TA; Towne M; Schmitz-Abe K; Crowley L; Giani FC; Kazerounian S; Markianos K; Lidov HG; Folkerth R; Sankaran VG; Agrawal PB
    Cold Spring Harb Mol Case Stud; 2016 May; 2(3):a000786. PubMed ID: 27148589
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.
    Balasubramaniam S; Choy YS; Talib A; Norsiah MD; van den Heuvel LP; Rodenburg RJ
    JIMD Rep; 2012; 5():113-22. PubMed ID: 23430926
    [TBL] [Abstract][Full Text] [Related]  

  • 56. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.
    Riley LG; Rudinger-Thirion J; Schmitz-Abe K; Thorburn DR; Davis RL; Teo J; Arbuckle S; Cooper ST; Campagna DR; Frugier M; Markianos K; Sue CM; Fleming MD; Christodoulou J
    JIMD Rep; 2016; 28():49-57. PubMed ID: 26537577
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
    Apatean D; Rakic B; Brunel-Guitton C; Hendson G; Bai R; Sargent MA; Lavoie PM; Patel M; Stockler-Ipsiroglu S
    Mol Genet Metab Rep; 2019 Mar; 18():32-38. PubMed ID: 30723688
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
    Apatean D; Rakic B; Brunel-Guitton C; Hendson G; Bai R; Sargent MA; Lavoie PM; Patel M; Stockler-Ipsiroglu S
    Mol Genet Metab Rep; 2019 Jun; 19():100472. PubMed ID: 31065540
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Rare presentation of FDX2-related disorder and untargeted global metabolomics findings.
    Aggarwal A; Pillai NR; Billington CJ; Schema L; Berry SA
    Am J Med Genet A; 2022 Apr; 188(4):1239-1244. PubMed ID: 34905296
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in
    Yang JO; Shaybekyan H; Zhao Y; Kang X; Fishbein GA; Khanlou N; Alejos JC; Halnon N; Satou G; Biniwale R; Lee H; Van Arsdell G; Nelson SF; Touma M; ;
    Front Cardiovasc Med; 2021; 8():798985. PubMed ID: 35071363
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.