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 *

197 related articles for article (PubMed ID: 24508361)

  • 1. Etiological yield of SNP microarrays in idiopathic intellectual disability.
    Utine GE; Haliloğlu G; Volkan-Salancı B; Çetinkaya A; Kiper PÖ; Alanay Y; Aktaş D; Anlar B; Topçu M; Boduroğlu K; Alikaşifoğlu M
    Eur J Paediatr Neurol; 2014 May; 18(3):327-37. PubMed ID: 24508361
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control.
    de Leeuw N; Hehir-Kwa JY; Simons A; Geurts van Kessel A; Smeets DF; Faas BH; Pfundt R
    Cytogenet Genome Res; 2011; 135(3-4):212-21. PubMed ID: 21934286
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays.
    Wang L; Fidler C; Nadig N; Giagounidis A; Della Porta MG; Malcovati L; Killick S; Gattermann N; Aul C; Boultwood J; Wainscoat JS
    Haematologica; 2008 Jul; 93(7):994-1000. PubMed ID: 18508791
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies.
    Pariltay E; Durmaz A; Durmaz B; Aykut A; Onay H; Ak H; Aydin HH; Ozkinay F; Cogulu O
    Genet Couns; 2014; 25(2):221-9. PubMed ID: 25059023
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.
    Hu T; Zhang Z; Wang J; Li Q; Zhu H; Lai Y; Wang H; Liu S
    Biomed Res Int; 2019; 2019():9352581. PubMed ID: 31781653
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genome-wide UPD screening in patients with intellectual disability.
    Schroeder C; Ekici AB; Moog U; Grasshoff U; Mau-Holzmann U; Sturm M; Vosseler V; Poths S; Rappold G; Riess A; Riess O; Dufke A; Bonin M
    Eur J Hum Genet; 2014 Oct; 22(10):1233-5. PubMed ID: 24801762
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability.
    Micleaa D; Al-Khzouza C; Osan S; Bucerzan S; Cret V; Popp RA; Puiu M; Chirita-Emandi A; Zimbru C; Ghervan C
    J Pediatr Endocrinol Metab; 2019 Jul; 32(7):667-674. PubMed ID: 31150357
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations.
    Kearney HM; Kearney JB; Conlin LK
    Clin Lab Med; 2011 Dec; 31(4):595-613, ix. PubMed ID: 22118739
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Detection of subtelomeric copy number variations in children with intellectual disability].
    Zhu LN; Wang Y; Peng W; Ma XW; Yang X; Liu X; Feng ZC
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Dec; 17(12):1273-6. PubMed ID: 26695663
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.
    Pani AM; Hobart HH; Morris CA; Mervis CB; Bray-Ward P; Kimberley KW; Rios CM; Clark RC; Gulbronson MD; Gowans GC; Gregg RG
    PLoS One; 2010 Aug; 5(8):e12349. PubMed ID: 20824207
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
    Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
    Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.
    Ting JC; Roberson ED; Miller ND; Lysholm-Bernacchi A; Stephan DA; Capone GT; Ruczinski I; Thomas GH; Pevsner J
    Hum Mutat; 2007 Dec; 28(12):1225-35. PubMed ID: 17661425
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
    Talseth-Palmer BA; Bowden NA; Meldrum C; Nicholl J; Thompson E; Friend K; Liebelt J; Bratkovic D; Haan E; Yu S; Scott RJ
    Cytogenet Genome Res; 2009; 124(1):94-101. PubMed ID: 19372674
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.
    Spreiz A; Haberlandt E; Baumann M; Baumgartner Sigl S; Fauth C; Gautsch K; Karall D; Janetschek C; Rostasy K; Scholl-Bürgi S; Zotter S; Utermann G; Zschocke J; Kotzot D
    Clin Genet; 2014 Oct; 86(4):361-6. PubMed ID: 24116836
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.
    Sharma P; Gupta N; Chowdhury MR; Sapra S; Ghosh M; Gulati S; Kabra M
    Gene; 2016 Sep; 590(1):109-19. PubMed ID: 27291820
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience.
    Durmaz B; Karaca E; Durmaz A; Atik T; Akin H; Cogulu O; Ozkinay F
    Genet Couns; 2013; 24(2):167-77. PubMed ID: 24032287
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.