BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 21865298)

  • 1. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
    Celestino-Soper PB; Shaw CA; Sanders SJ; Li J; Murtha MT; Ercan-Sencicek AG; Davis L; Thomson S; Gambin T; Chinault AC; Ou Z; German JR; Milosavljevic A; Sutcliffe JS; Cook EH; Stankiewicz P; State MW; Beaudet AL
    Hum Mol Genet; 2011 Nov; 20(22):4360-70. PubMed ID: 21865298
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
    Celestino-Soper PB; Violante S; Crawford EL; Luo R; Lionel AC; Delaby E; Cai G; Sadikovic B; Lee K; Lo C; Gao K; Person RE; Moss TJ; German JR; Huang N; Shinawi M; Treadwell-Deering D; Szatmari P; Roberts W; Fernandez B; Schroer RJ; Stevenson RE; Buxbaum JD; Betancur C; Scherer SW; Sanders SJ; Geschwind DH; Sutcliffe JS; Hurles ME; Wanders RJ; Shaw CA; Leal SM; Cook EH; Goin-Kochel RP; Vaz FM; Beaudet AL
    Proc Natl Acad Sci U S A; 2012 May; 109(21):7974-81. PubMed ID: 22566635
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of copy number variants from exome sequence data.
    Samarakoon PS; Sorte HS; Kristiansen BE; Skodje T; Sheng Y; Tjønnfjord GE; Stadheim B; Stray-Pedersen A; Rødningen OK; Lyle R
    BMC Genomics; 2014 Aug; 15(1):661. PubMed ID: 25102989
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
    Bartnik M; Szczepanik E; Derwińska K; Wiśniowiecka-Kowalnik B; Gambin T; Sykulski M; Ziemkiewicz K; Kędzior M; Gos M; Hoffman-Zacharska D; Mazurczak T; Jeziorek A; Antczak-Marach D; Rudzka-Dybała M; Mazurkiewicz H; Goszczańska-Ciuchta A; Zalewska-Miszkurka Z; Terczyńska I; Sobierajewicz M; Shaw CA; Gambin A; Mierzewska H; Mazurczak T; Obersztyn E; Bocian E; Stankiewicz P
    Am J Med Genet B Neuropsychiatr Genet; 2012 Oct; 159B(7):760-71. PubMed ID: 22825934
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
    Nava C; Keren B; Mignot C; Rastetter A; Chantot-Bastaraud S; Faudet A; Fonteneau E; Amiet C; Laurent C; Jacquette A; Whalen S; Afenjar A; Périsse D; Doummar D; Dorison N; Leboyer M; Siffroi JP; Cohen D; Brice A; Héron D; Depienne C
    Eur J Hum Genet; 2014 Jan; 22(1):71-8. PubMed ID: 23632794
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.
    Bestetti I; Castronovo C; Sironi A; Caslini C; Sala C; Rossetti R; Crippa M; Ferrari I; Pistocchi A; Toniolo D; Persani L; Marozzi A; Finelli P
    Hum Reprod; 2019 Mar; 34(3):574-583. PubMed ID: 30689869
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.
    da Silva Montenegro EM; Costa CS; Campos G; Scliar M; de Almeida TF; Zachi EC; Silva IMW; Chan AJS; Zarrei M; Lourenço NCV; Yamamoto GL; Scherer S; Passos-Bueno MR
    Autism Res; 2020 Feb; 13(2):199-206. PubMed ID: 31696658
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.
    Przybytkowski E; Ferrario C; Basik M
    BMC Med Genomics; 2011 Jan; 4():16. PubMed ID: 21272361
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.
    Hussein IR; Bader RS; Chaudhary AG; Bassiouni R; Alquaiti M; Ashgan F; Schulten HJ; Al Qahtani MH
    Pediatr Cardiol; 2018 Jun; 39(5):924-940. PubMed ID: 29541814
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
    Leppa VM; Kravitz SN; Martin CL; Andrieux J; Le Caignec C; Martin-Coignard D; DyBuncio C; Sanders SJ; Lowe JK; Cantor RM; Geschwind DH
    Am J Hum Genet; 2016 Sep; 99(3):540-554. PubMed ID: 27569545
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tourette syndrome is associated with recurrent exonic copy number variants.
    Sundaram SK; Huq AM; Wilson BJ; Chugani HT
    Neurology; 2010 May; 74(20):1583-90. PubMed ID: 20427753
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
    AlAyadhi LY; Hashmi JA; Iqbal M; Albalawi AM; Samman MI; Elamin NE; Bashir S; Basit S
    Neuroscience; 2016 Dec; 339():561-570. PubMed ID: 27771533
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
    Wiszniewska J; Bi W; Shaw C; Stankiewicz P; Kang SH; Pursley AN; Lalani S; Hixson P; Gambin T; Tsai CH; Bock HG; Descartes M; Probst FJ; Scaglia F; Beaudet AL; Lupski JR; Eng C; Cheung SW; Bacino C; Patel A
    Eur J Hum Genet; 2014 Jan; 22(1):79-87. PubMed ID: 23695279
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ohnologs are overrepresented in pathogenic copy number mutations.
    McLysaght A; Makino T; Grayton HM; Tropeano M; Mitchell KJ; Vassos E; Collier DA
    Proc Natl Acad Sci U S A; 2014 Jan; 111(1):361-6. PubMed ID: 24368850
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
    Wayhelova M; Smetana J; Vallova V; Hladilkova E; Filkova H; Hanakova M; Vilemova M; Nikolova P; Gromesova B; Gaillyova R; Kuglik P
    BMC Med Genomics; 2019 Jul; 12(1):111. PubMed ID: 31337399
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genomic changes detected by array CGH in human embryos with developmental defects.
    Rajcan-Separovic E; Qiao Y; Tyson C; Harvard C; Fawcett C; Kalousek D; Stephenson M; Philipp T
    Mol Hum Reprod; 2010 Feb; 16(2):125-34. PubMed ID: 19778950
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
    Prasad A; Merico D; Thiruvahindrapuram B; Wei J; Lionel AC; Sato D; Rickaby J; Lu C; Szatmari P; Roberts W; Fernandez BA; Marshall CR; Hatchwell E; Eis PS; Scherer SW
    G3 (Bethesda); 2012 Dec; 2(12):1665-85. PubMed ID: 23275889
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
    Tisserant E; Vitobello A; Callegarin D; Verdez S; Bruel AL; Aho Glele LS; Sorlin A; Viora-Dupont E; Konyukh M; Marle N; Nambot S; Moutton S; Racine C; Garde A; Delanne J; Tran-Mau-Them F; Philippe C; Kuentz P; Poulleau M; Payet M; Poe C; Thauvin-Robinet C; Faivre L; Mosca-Boidron AL; Thevenon J; Duffourd Y; Callier P
    Ann Hum Genet; 2022 Jul; 86(4):171-180. PubMed ID: 35141892
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.