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 *

467 related articles for article (PubMed ID: 32972427)

  • 61. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 62. [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
    Monnot S; Chabrol B; Cano A; Pellissier JF; Collignon P; Montfort MF; Paquis-Flucklinger V
    Arch Pediatr; 2005 May; 12(5):568-71. PubMed ID: 15885549
    [TBL] [Abstract][Full Text] [Related]  

  • 63. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
    Stowe RC; Sun Q; Elsea SH; Scaglia F
    Am J Med Genet A; 2018 May; 176(5):1184-1189. PubMed ID: 29681092
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency.
    Savasta S; Comi GP; Perini MP; Lupi A; Strazzer S; Rognoni F; Rossoni R
    J Child Neurol; 2001 Aug; 16(8):608-13. PubMed ID: 11510937
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
    Sonam K; Khan NA; Bindu PS; Taly AB; Gayathri N; Bharath MM; Govindaraju C; Arvinda HR; Nagappa M; Sinha S; Thangaraj K
    Brain Dev; 2014 Oct; 36(9):807-12. PubMed ID: 24262866
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
    Schwartzentruber J; Buhas D; Majewski J; Sasarman F; Papillon-Cavanagh S; Thiffault I; Sheldon KM; Massicotte C; Patry L; Simon M; Zare AS; McKernan KJ; ; Michaud J; Boles RG; Deal CL; Desilets V; Shoubridge EA; Samuels ME
    Hum Mutat; 2014 Nov; 35(11):1285-9. PubMed ID: 25130867
    [TBL] [Abstract][Full Text] [Related]  

  • 67. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
    Merante F; Petrova-Benedict R; MacKay N; Mitchell G; Lambert M; Morin C; De Braekeleer M; Laframboise R; Gagné R; Robinson BH
    Am J Hum Genet; 1993 Aug; 53(2):481-7. PubMed ID: 8392290
    [TBL] [Abstract][Full Text] [Related]  

  • 68. VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
    Begliuomini C; Magli G; Di Rocco M; Santorelli FM; Cassandrini D; Nesti C; Deodato F; Diodato D; Casellato S; Simula DM; Dessì V; Eusebi A; Carta A; Sotgiu S
    BMC Med Genet; 2019 May; 20(1):77. PubMed ID: 31064326
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
    Catania A; Ardissone A; Verrigni D; Legati A; Reyes A; Lamantea E; Diodato D; Tonduti D; Imperatore V; Pinto AM; Moroni I; Bertini E; Robinson A; Carrozzo R; Zeviani M; Ghezzi D
    J Hum Genet; 2018 May; 63(5):563-568. PubMed ID: 29531337
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
    Gerards M; Sallevelt SC; Smeets HJ
    Mol Genet Metab; 2016 Mar; 117(3):300-12. PubMed ID: 26725255
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion.
    Rolland SG; Motori E; Memar N; Hench J; Frank S; Winklhofer KF; Conradt B
    Proc Natl Acad Sci U S A; 2013 Aug; 110(32):E2967-76. PubMed ID: 23878239
    [TBL] [Abstract][Full Text] [Related]  

  • 72. A patient with mitochondrial disorder due to a novel mutation in MRPS22.
    Kılıç M; Oğuz KK; Kılıç E; Yüksel D; Demirci H; Sağıroğlu MŞ; Yücel-Yılmaz D; Özgül RK
    Metab Brain Dis; 2017 Oct; 32(5):1389-1393. PubMed ID: 28752220
    [TBL] [Abstract][Full Text] [Related]  

  • 73. 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]  

  • 74. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
    Tay SK; Sacconi S; Akman HO; Morales JF; Morales A; De Vivo DC; Shanske S; Bonilla E; DiMauro S
    J Child Neurol; 2005 Aug; 20(8):670-4. PubMed ID: 16225813
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome.
    Cacić M; Wilichowski E; Mejaski-Bosnjak V; Fumić K; Lujić L; Marusić Della Marina B; Hanefeld F
    J Child Neurol; 2001 Aug; 16(8):616-9. PubMed ID: 11510939
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Leigh Syndrome Due to
    Borna NN; Kishita Y; Sakai N; Hamada Y; Kamagata K; Kohda M; Ohtake A; Murayama K; Okazaki Y
    Genes (Basel); 2020 Nov; 11(11):. PubMed ID: 33182419
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
    Pillai NR; AlDhaheri NS; Ghosh R; Lim J; Streff H; Nayak A; Graham BH; Hanchard NA; Elsea SH; Scaglia F
    Am J Med Genet A; 2019 Oct; 179(10):2138-2143. PubMed ID: 31290619
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
    Men L; Feng J; Huang W; Xu M; Zhao X; Sun R; Xu J; Cao L
    Medicine (Baltimore); 2022 Aug; 101(34):e30303. PubMed ID: 36042640
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
    DeBrosse SD; Okajima K; Zhang S; Nakouzi G; Schmotzer CL; Lusk-Kopp M; Frohnapfel MB; Grahame G; Kerr DS
    Mol Genet Metab; 2012 Nov; 107(3):394-402. PubMed ID: 23021068
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.