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 *

519 related articles for article (PubMed ID: 24068782)

  • 1. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.
    Mullen SA; Carvill GL; Bellows S; Bayly MA; Trucks H; Lal D; Sander T; Berkovic SF; Dibbens LM; Scheffer IE; Mefford HC
    Neurology; 2013 Oct; 81(17):1507-14. PubMed ID: 24068782
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.
    Jähn JA; von Spiczak S; Muhle H; Obermeier T; Franke A; Mefford HC; Stephani U; Helbig I
    Epilepsy Res; 2014 Jan; 108(1):109-16. PubMed ID: 24246141
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
    de Kovel CG; Trucks H; Helbig I; Mefford HC; Baker C; Leu C; Kluck C; Muhle H; von Spiczak S; Ostertag P; Obermeier T; Kleefuss-Lie AA; Hallmann K; Steffens M; Gaus V; Klein KM; Hamer HM; Rosenow F; Brilstra EH; Trenité DK; Swinkels ME; Weber YG; Unterberger I; Zimprich F; Urak L; Feucht M; Fuchs K; Møller RS; Hjalgrim H; De Jonghe P; Suls A; Rückert IM; Wichmann HE; Franke A; Schreiber S; Nürnberg P; Elger CE; Lerche H; Stephani U; Koeleman BP; Lindhout D; Eichler EE; Sander T
    Brain; 2010 Jan; 133(Pt 1):23-32. PubMed ID: 19843651
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.
    Bassuk AG; Geraghty E; Wu S; Mullen SA; Berkovic SF; Scheffer IE; Mefford HC
    Am J Med Genet A; 2013 Jul; 161A(7):1722-5. PubMed ID: 23686817
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Epilepsy and the new cytogenetics.
    Mulley JC; Mefford HC
    Epilepsia; 2011 Mar; 52(3):423-32. PubMed ID: 21269290
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
    Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
    JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
    Lal D; Ruppert AK; Trucks H; Schulz H; de Kovel CG; Kasteleijn-Nolst Trenité D; Sonsma AC; Koeleman BP; Lindhout D; Weber YG; Lerche H; Kapser C; Schankin CJ; Kunz WS; Surges R; Elger CE; Gaus V; Schmitz B; Helbig I; Muhle H; Stephani U; Klein KM; Rosenow F; Neubauer BA; Reinthaler EM; Zimprich F; Feucht M; Møller RS; Hjalgrim H; De Jonghe P; Suls A; Lieb W; Franke A; Strauch K; Gieger C; Schurmann C; Schminke U; Nürnberg P; ; Sander T
    PLoS Genet; 2015 May; 11(5):e1005226. PubMed ID: 25950944
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
    Wolfe K; Strydom A; Morrogh D; Carter J; Cutajar P; Eyeoyibo M; Hassiotis A; McCarthy J; Mukherjee R; Paschos D; Perumal N; Read S; Shankar R; Sharif S; Thirulokachandran S; Thygesen JH; Patch C; Ogilvie C; Flinter F; McQuillin A; Bass N
    Eur J Hum Genet; 2016 Jan; 25(1):66-72. PubMed ID: 27650969
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
    Peycheva V; Kamenarova K; Ivanova N; Stamatov D; Avdjieva-Tzavella D; Alexandrova I; Zhelyazkova S; Pacheva I; Dimova P; Ivanov I; Litvinenko I; Bozhinova V; Tournev I; Simeonov E; Mitev V; Jordanova A; Kaneva R
    Gene; 2018 Aug; 667():45-55. PubMed ID: 29753047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.
    Muhle H; Mefford HC; Obermeier T; von Spiczak S; Eichler EE; Stephani U; Sander T; Helbig I
    Epilepsia; 2011 Dec; 52(12):e194-8. PubMed ID: 22050399
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The unexpected role of copy number variations in juvenile myoclonic epilepsy.
    Helbig I; Hartmann C; Mefford HC
    Epilepsy Behav; 2013 Jul; 28 Suppl 1():S66-8. PubMed ID: 23756484
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
    Wang R; Lei T; Fu F; Li R; Jing X; Yang X; Liu J; Li D; Liao C
    Pediatr Neonatol; 2019 Feb; 60(1):35-42. PubMed ID: 29631977
    [TBL] [Abstract][Full Text] [Related]  

  • 13. High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
    Stewart LR; Hall AL; Kang SH; Shaw CA; Beaudet AL
    BMC Med Genet; 2011 Nov; 12():154. PubMed ID: 22118685
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
    Fry AE; Rees E; Thompson R; Mantripragada K; Blake P; Jones G; Morgan S; Jose S; Mugalaasi H; Archer H; McCann E; Clarke A; Taylor C; Davies S; Gibbon F; Te Water Naude J; Hartley L; Thomas G; White C; Natarajan J; Thomas RH; Drew C; Chung SK; Rees MI; Holmans P; Owen MJ; Kirov G; Pilz DT; Kerr MP
    BMC Med Genet; 2016 Apr; 17(1):34. PubMed ID: 27113213
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.
    Derks EM; Ayub M; Chambert K; Del Favero J; Johnstone M; MacGregor S; Maclean A; McKechanie AG; McRae AF; Moran JL; Pickard BS; Purcell S; Sklar P; StClair DM; Wray NR; Visscher PM; Blackwood DH
    Am J Med Genet B Neuropsychiatr Genet; 2013 Dec; 162B(8):847-54. PubMed ID: 24115684
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 26.