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 *

202 related articles for article (PubMed ID: 25634561)

  • 1. Mosaic structural variation in children with developmental disorders.
    King DA; Jones WD; Crow YJ; Dominiczak AF; Foster NA; Gaunt TR; Harris J; Hellens SW; Homfray T; Innes J; Jones EA; Joss S; Kulkarni A; Mansour S; Morris AD; Parker MJ; Porteous DJ; Shihab HA; Smith BH; Tatton-Brown K; Tolmie JL; Trzaskowski M; Vasudevan PC; Wakeling E; Wright M; Plomin R; Timpson NJ; Hurles ME;
    Hum Mol Genet; 2015 May; 24(10):2733-45. PubMed ID: 25634561
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
    Bruno DL; White SM; Ganesamoorthy D; Burgess T; Butler K; Corrie S; Francis D; Hills L; Prabhakara K; Ngo C; Norris F; Oertel R; Pertile MD; Stark Z; Amor DJ; Slater HR
    J Med Genet; 2011 Dec; 48(12):831-9. PubMed ID: 22039585
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
    Miller CR; Lee K; Pfau RB; Reshmi SC; Corsmeier DJ; Hashimoto S; Dave-Wala A; Jayaraman V; Koboldt D; Matthews T; Mouhlas D; Stein M; McKinney A; Grossman T; Kelly BJ; White P; Magrini V; Wilson RK; Mardis ER; Cottrell CE
    Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32371413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
    Wright CF; Prigmore E; Rajan D; Handsaker J; McRae J; Kaplanis J; Fitzgerald TW; FitzPatrick DR; Firth HV; Hurles ME
    Nat Commun; 2019 Jul; 10(1):2985. PubMed ID: 31278258
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.
    Rodríguez-Santiago B; Malats N; Rothman N; Armengol L; Garcia-Closas M; Kogevinas M; Villa O; Hutchinson A; Earl J; Marenne G; Jacobs K; Rico D; Tardón A; Carrato A; Thomas G; Valencia A; Silverman D; Real FX; Chanock SJ; Pérez-Jurado LA
    Am J Hum Genet; 2010 Jul; 87(1):129-38. PubMed ID: 20598279
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
    Hu J; Ou Z; Surti U; Kochmar S; Hoffner L; Madan-Khetarpal S; Arnold GL; Walsh L; Acquaro R; Sebastian J; Yatsenko SA
    Am J Med Genet A; 2020 Apr; 182(4):813-822. PubMed ID: 31913574
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnosis and clinical delineation of mosaic tetrasomy 5p.
    Blakey-Cheung S; Parker P; Schlaff W; Monseur B; Keppler-Noreuil K; Al-Kouatly HB
    Eur J Med Genet; 2020 Jan; 63(1):103634. PubMed ID: 30797979
    [TBL] [Abstract][Full Text] [Related]  

  • 8. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
    Hsieh A; Morton SU; Willcox JAL; Gorham JM; Tai AC; Qi H; DePalma S; McKean D; Griffin E; Manheimer KB; Bernstein D; Kim RW; Newburger JW; Porter GA; Srivastava D; Tristani-Firouzi M; Brueckner M; Lifton RP; Goldmuntz E; Gelb BD; Chung WK; Seidman CE; Seidman JG; Shen Y
    Genome Med; 2020 Apr; 12(1):42. PubMed ID: 32349777
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
    Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
    JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
    Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
    D'Amours G; Langlois M; Mathonnet G; Fetni R; Nizard S; Srour M; Tihy F; Phillips MS; Michaud JL; Lemyre E
    BMC Med Genomics; 2014 Dec; 7():70. PubMed ID: 25539807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
    Mirzaa GM; Conti V; Timms AE; Smyser CD; Ahmed S; Carter M; Barnett S; Hufnagel RB; Goldstein A; Narumi-Kishimoto Y; Olds C; Collins S; Johnston K; Deleuze JF; Nitschké P; Friend K; Harris C; Goetsch A; Martin B; Boyle EA; Parrini E; Mei D; Tattini L; Slavotinek A; Blair E; Barnett C; Shendure J; Chelly J; Dobyns WB; Guerrini R
    Lancet Neurol; 2015 Dec; 14(12):1182-95. PubMed ID: 26520804
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mosaic variants in two patients with Cornelia de Lange syndrome.
    Pozojevic J; Parenti I; Graul-Neumann L; Ruiz Gil S; Watrin E; Wendt KS; Werner R; Strom TM; Gillessen-Kaesbach G; Kaiser FJ
    Eur J Med Genet; 2018 Nov; 61(11):680-684. PubMed ID: 29155047
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Array-CGH and clinical findings in a patient with a small supernumerary r(8) mosaicism.
    Eyüpoğlu FC; Sünnetçi D; Cine N; Savli H; Okten A; Açikgöz EG; Sönmez FM
    Genet Couns; 2014; 25(3):305-13. PubMed ID: 25365853
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
    de Kock L; Wang YC; Revil T; Badescu D; Rivera B; Sabbaghian N; Wu M; Weber E; Sandoval C; Hopman SM; Merks JH; van Hagen JM; Bouts AH; Plager DA; Ramasubramanian A; Forsmark L; Doyle KL; Toler T; Callahan J; Engelenberg C; Bouron-Dal Soglio D; Priest JR; Ragoussis J; Foulkes WD
    J Med Genet; 2016 Jan; 53(1):43-52. PubMed ID: 26475046
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of structural mosaicism from targeted and whole-genome sequencing data.
    King DA; Sifrim A; Fitzgerald TW; Rahbari R; Hobson E; Homfray T; Mansour S; Mehta SG; Shehla M; Tomkins SE; Vasudevan PC; Hurles ME;
    Genome Res; 2017 Oct; 27(10):1704-1714. PubMed ID: 28855261
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
    Lee CL; Lee CH; Chuang CK; Chiu HC; Chen YJ; Chou CL; Wu PS; Chen CP; Lin HY; Lin SP
    Pediatr Neonatol; 2019 Aug; 60(4):453-460. PubMed ID: 30581099
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.
    Inoue T; Nakamura A; Fuke T; Yamazawa K; Sano S; Matsubara K; Mizuno S; Matsukura Y; Harashima C; Hasegawa T; Nakajima H; Tsumura K; Kizaki Z; Oka A; Ogata T; Fukami M; Kagami M
    Clin Epigenetics; 2017; 9():52. PubMed ID: 28515796
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
    Mroske C; Rasmussen K; Shinde DN; Huether R; Powis Z; Lu HM; Baxter RM; McPherson E; Tang S
    BMC Med Genet; 2015 Nov; 16():102. PubMed ID: 26542245
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.