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 *

264 related articles for article (PubMed ID: 22659343)

  • 1. Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.
    Isrie M; Froyen G; Devriendt K; de Ravel T; Fryns JP; Vermeesch JR; Van Esch H
    Eur J Med Genet; 2012 Nov; 55(11):577-85. PubMed ID: 22659343
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.
    Willemsen MH; de Leeuw N; de Brouwer AP; Pfundt R; Hehir-Kwa JY; Yntema HG; Nillesen WM; de Vries BB; van Bokhoven H; Kleefstra T
    Eur J Med Genet; 2012 Nov; 55(11):586-98. PubMed ID: 22796527
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
    Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
    J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
    Shoukier M; Klein N; Auber B; Wickert J; Schröder J; Zoll B; Burfeind P; Bartels I; Alsat EA; Lingen M; Grzmil P; Schulze S; Keyser J; Weise D; Borchers M; Hobbiebrunken E; Röbl M; Gärtner J; Brockmann K; Zirn B
    Clin Genet; 2013 Jan; 83(1):53-65. PubMed ID: 22283495
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Pathogenic or not? Assessing the clinical relevance of copy number variants.
    Hehir-Kwa JY; Pfundt R; Veltman JA; de Leeuw N
    Clin Genet; 2013 Nov; 84(5):415-21. PubMed ID: 23895381
    [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. Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.
    Mignon-Ravix C; Cacciagli P; Choucair N; Popovici C; Missirian C; Milh M; Mégarbané A; Busa T; Julia S; Girard N; Badens C; Sigaudy S; Philip N; Villard L
    Am J Med Genet A; 2014 Aug; 164A(8):1991-7. PubMed ID: 24817631
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
    Di Gregorio E; Riberi E; Belligni EF; Biamino E; Spielmann M; Ala U; Calcia A; Bagnasco I; Carli D; Gai G; Giordano M; Guala A; Keller R; Mandrile G; Arduino C; Maffè A; Naretto VG; Sirchia F; Sorasio L; Ungari S; Zonta A; Zacchetti G; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Ferrero M; Brussino A; Savin E; Gandione M; Pelle A; Giachino DF; De Marchi M; Restagno G; Provero P; Cirillo Silengo M; Grosso E; Buxbaum JD; Pasini B; De Rubeis S; Brusco A; Ferrero GB
    Clin Genet; 2017 Oct; 92(4):415-422. PubMed ID: 28295210
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
    Li F; Shen Y; Köhler U; Sharkey FH; Menon D; Coulleaux L; Malan V; Rio M; McMullan DJ; Cox H; Fagan KA; Gaunt L; Metcalfe K; Heinrich U; Hislop G; Maye U; Sutcliffe M; Wu BL; Thiel BD; Mulchandani S; Conlin LK; Spinner NB; Murphy KM; Batista DA
    Eur J Med Genet; 2010; 53(2):93-9. PubMed ID: 20132918
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.
    D'Amours G; Kibar Z; Mathonnet G; Fetni R; Tihy F; Désilets V; Nizard S; Michaud JL; Lemyre E
    Clin Genet; 2012 Feb; 81(2):128-41. PubMed ID: 21496010
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
    Basit S; Malibari OI; Al-Balawi AM; Afzal S; Eldardear AE; Ramzan K
    Am J Med Genet A; 2016 Jan; 170A(1):87-93. PubMed ID: 26358363
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Array CGH: technical considerations and applications].
    Sireteanu A; Covic M; Gorduza EV
    Rev Med Chir Soc Med Nat Iasi; 2012; 116(2):545-51. PubMed ID: 23077951
    [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. The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
    Tzetis M; Kitsiou-Tzeli S; Frysira H; Xaidara A; Kanavakis E
    Expert Rev Mol Diagn; 2012 Jun; 12(5):449-57. PubMed ID: 22702362
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.