BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 19103789)

  • 21. Detection of clinically relevant exonic copy-number changes by array CGH.
    Boone PM; Bacino CA; Shaw CA; Eng PA; Hixson PM; Pursley AN; Kang SH; Yang Y; Wiszniewska J; Nowakowska BA; del Gaudio D; Xia Z; Simpson-Patel G; Immken LL; Gibson JB; Tsai AC; Bowers JA; Reimschisel TE; Schaaf CP; Potocki L; Scaglia F; Gambin T; Sykulski M; Bartnik M; Derwinska K; Wisniowiecka-Kowalnik B; Lalani SR; Probst FJ; Bi W; Beaudet AL; Patel A; Lupski JR; Cheung SW; Stankiewicz P
    Hum Mutat; 2010 Dec; 31(12):1326-42. PubMed ID: 20848651
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
    Bornstein B; Area E; Flanigan KM; Ganesh J; Jayakar P; Swoboda KJ; Coku J; Naini A; Shanske S; Tanji K; Hirano M; DiMauro S
    Neuromuscul Disord; 2008 Jun; 18(6):453-9. PubMed ID: 18504129
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
    Mahjoub G; Habibzadeh P; Dastsooz H; Mirzaei M; Kavosi A; Jamali L; Javanmardi H; Katibeh P; Faghihi MA; Dastgheib SA
    BMC Med Genet; 2019 Oct; 20(1):167. PubMed ID: 31664948
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.
    Bai RK; Wong LJ
    J Mol Diagn; 2005 Nov; 7(5):613-22. PubMed ID: 16258160
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
    Compton AG; Troedson C; Wilson M; Procopis PG; Li FY; Brundage EK; Yamazaki T; Thorburn DR; Wong LJ
    Mitochondrion; 2011 Jan; 11(1):104-7. PubMed ID: 20708716
    [TBL] [Abstract][Full Text] [Related]  

  • 26. POLG1 mutations associated with progressive encephalopathy in childhood.
    Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
    J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].
    Deng M; Lin WX; Guo L; Zhang ZH; Song YZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Jun; 18(6):545-50. PubMed ID: 27324545
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M; Sivri HS; Dursun A; Tokatli A; De Meirleir L; Seneca S; Akçören Z; Yiğit S; Topaloğlu H; Coşkun T
    Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
    Askree SH; Chin EL; Bean LH; Coffee B; Tanner A; Hegde M
    BMC Genet; 2013 Dec; 14():116. PubMed ID: 24304607
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
    Saillour Y; Cossée M; Leturcq F; Vasson A; Beugnet C; Poirier K; Commere V; Sublemontier S; Viel M; Letourneur F; Barbot JC; Deburgrave N; Chelly J; Bienvenu T
    Hum Mutat; 2008 Sep; 29(9):1083-90. PubMed ID: 18683213
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Improving post-natal detection of mitochondrial DNA mutations.
    Barcia G; Assouline Z; Magen M; Pennisi A; Rötig A; Munnich A; Bonnefont JP; Steffann J
    Expert Rev Mol Diagn; 2020 Oct; 20(10):1003-1008. PubMed ID: 32902337
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.
    Tadiboyina VT; Rupar A; Atkison P; Feigenbaum A; Kronick J; Wang J; Hegele RA
    Am J Med Genet A; 2005 Jun; 135(3):289-91. PubMed ID: 15887277
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
    Pronicka E; Węglewska-Jurkiewicz A; Taybert J; Pronicki M; Szymańska-Dębińska T; Karkucińska-Więckowska A; Jakóbkiewicz-Banecka J; Kowalski P; Piekutowska-Abramczuk D; Pajdowska M; Socha P; Sykut-Cegielska J; Węgrzyn G
    J Appl Genet; 2011 Feb; 52(1):61-6. PubMed ID: 21107780
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
    McKiernan P; Ball S; Santra S; Foster K; Fratter C; Poulton J; Craig K; McFarland R; Rahman S; Hargreaves I; Gupte G; Sharif K; Taylor RW
    J Pediatr Gastroenterol Nutr; 2016 Dec; 63(6):592-597. PubMed ID: 27482763
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
    Taanman JW; Kateeb I; Muntau AC; Jaksch M; Cohen N; Mandel H
    Ann Neurol; 2002 Aug; 52(2):237-9. PubMed ID: 12210798
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
    Dimmock DP; Zhang Q; Dionisi-Vici C; Carrozzo R; Shieh J; Tang LY; Truong C; Schmitt E; Sifry-Platt M; Lucioli S; Santorelli FM; Ficicioglu CH; Rodriguez M; Wierenga K; Enns GM; Longo N; Lipson MH; Vallance H; Craigen WJ; Scaglia F; Wong LJ
    Hum Mutat; 2008 Feb; 29(2):330-1. PubMed ID: 18205204
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.
    Palculict ME; Zhang VW; Wong LJ; Wang J
    Methods Mol Biol; 2016; 1351():3-17. PubMed ID: 26530670
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Current molecular diagnostic algorithm for mitochondrial disorders.
    Wong LJ; Scaglia F; Graham BH; Craigen WJ
    Mol Genet Metab; 2010 Jun; 100(2):111-7. PubMed ID: 20359921
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.