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 *

732 related articles for article (PubMed ID: 21681106)

  • 1. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
    Kearney HM; Thorland EC; Brown KK; Quintero-Rivera F; South ST;
    Genet Med; 2011 Jul; 13(7):680-5. PubMed ID: 21681106
    [TBL] [Abstract][Full Text] [Related]  

  • 2. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
    Kearney HM; South ST; Wolff DJ; Lamb A; Hamosh A; Rao KW;
    Genet Med; 2011 Jul; 13(7):676-9. PubMed ID: 21681105
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
    South ST; Lee C; Lamb AN; Higgins AW; Kearney HM;
    Genet Med; 2013 Nov; 15(11):901-9. PubMed ID: 24071793
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Oligonucleotide microarrays in constitutional genetic diagnosis.
    Keren B; Le Caignec C
    Expert Rev Mol Diagn; 2011 Jun; 11(5):521-32. PubMed ID: 21707460
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.
    Moeschler JB
    Curr Opin Neurol; 2008 Apr; 21(2):117-22. PubMed ID: 18317267
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings.
    Akkus N; Cubuk PO
    Mol Biol Rep; 2024 Apr; 51(1):577. PubMed ID: 38664339
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
    Riggs ER; Andersen EF; Cherry AM; Kantarci S; Kearney H; Patel A; Raca G; Ritter DI; South ST; Thorland EC; Pineda-Alvarez D; Aradhya S; Martin CL
    Genet Med; 2020 Feb; 22(2):245-257. PubMed ID: 31690835
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.
    Jobanputra V; Andrews P; Felice V; Abhyankar A; Kozon L; Robinson D; London F; Hakker I; Wrzeszczynski K; Ronemus M
    J Mol Diagn; 2020 Dec; 22(12):1476-1481. PubMed ID: 33132082
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.
    Jang W; Kim Y; Han E; Park J; Chae H; Kwon A; Choi H; Kim J; Son JO; Lee SJ; Hong BY; Jang DH; Han JY; Lee JH; Kim SY; Lee IG; Sung IK; Moon Y; Kim M; Park JH
    Ann Lab Med; 2019 May; 39(3):299-310. PubMed ID: 30623622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
    Bruno DL; Stark Z; Amor DJ; Burgess T; Butler K; Corrie S; Francis D; Ganesamoorthy D; Hills L; James PA; O'Rielly D; Oertel R; Savarirayan R; Prabhakara K; Salce N; Slater HR
    Hum Mutat; 2011 Dec; 32(12):1500-6. PubMed ID: 21850686
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
    Mikhail FM; Biegel JA; Cooley LD; Dubuc AM; Hirsch B; Horner VL; Newman S; Shao L; Wolff DJ; Raca G
    Genet Med; 2019 Sep; 21(9):1903-1916. PubMed ID: 31138931
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
    Bartnik M; Wiśniowiecka-Kowalnik B; Nowakowska B; Smyk M; Kędzior M; Sobecka K; Kutkowska-Kaźmierczak A; Klapecki J; Szczałuba K; Castañeda J; Własienko P; Bezniakow N; Obersztyn E; Bocian E
    Dev Period Med; 2014; 18(3):307-17. PubMed ID: 25182394
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances.
    de Souza LC; Dos Santos AP; Sgardioli IC; Viguetti-Campos NL; Marques Prota JR; de Oliveira-Sobrinho RP; Vieira TP; Gil-da-Silva-Lopes VL
    J Intellect Disabil Res; 2019 Nov; 63(11):1379-1389. PubMed ID: 30900361
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)].
    Chen X; Shangguan S; Xie H; Liu H; Liu W; An Y; Shen Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):1-10. PubMed ID: 34964957
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic copy number variation in disorders of cognitive development.
    Morrow EM
    J Am Acad Child Adolesc Psychiatry; 2010 Nov; 49(11):1091-104. PubMed ID: 20970697
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Special report: aCGH for the genetic evaluation of patients with developmental delay/mental retardation or autism spectrum disorder.
    Technol Eval Cent Assess Program Exec Summ; 2009 Apr; 23(10):1-5. PubMed ID: 19824216
    [No Abstract]   [Full Text] [Related]  

  • 17. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
    Battaglia A; Doccini V; Bernardini L; Novelli A; Loddo S; Capalbo A; Filippi T; Carey JC
    Eur J Paediatr Neurol; 2013 Nov; 17(6):589-99. PubMed ID: 23711909
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Oligonucleotide microarrays for clinical diagnosis of copy number variation.
    Miller DT; Shen Y; Wu BL
    Curr Protoc Hum Genet; 2008 Jul; Chapter 8():Unit 8.12. PubMed ID: 18633976
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
    Girirajan S; Rosenfeld JA; Coe BP; Parikh S; Friedman N; Goldstein A; Filipink RA; McConnell JS; Angle B; Meschino WS; Nezarati MM; Asamoah A; Jackson KE; Gowans GC; Martin JA; Carmany EP; Stockton DW; Schnur RE; Penney LS; Martin DM; Raskin S; Leppig K; Thiese H; Smith R; Aberg E; Niyazov DM; Escobar LF; El-Khechen D; Johnson KD; Lebel RR; Siefkas K; Ball S; Shur N; McGuire M; Brasington CK; Spence JE; Martin LS; Clericuzio C; Ballif BC; Shaffer LG; Eichler EE
    N Engl J Med; 2012 Oct; 367(14):1321-31. PubMed ID: 22970919
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
    Lay-Son G; Espinoza K; Vial C; Rivera JC; Guzmán ML; Repetto GM
    J Pediatr (Rio J); 2015; 91(2):189-95. PubMed ID: 25458876
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 37.