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 *

209 related articles for article (PubMed ID: 24372385)

  • 1. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
    Dimassi S; Labalme A; Lesca G; Rudolf G; Bruneau N; Hirsch E; Arzimanoglou A; Motte J; de Saint Martin A; Boutry-Kryza N; Cloarec R; Benitto A; Ameil A; Edery P; Ryvlin P; De Bellescize J; Szepetowski P; Sanlaville D
    Epilepsia; 2014 Feb; 55(2):370-8. PubMed ID: 24372385
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.
    Addis L; Sproviero W; Thomas SV; Caraballo RH; Newhouse SJ; Gomez K; Hughes E; Kinali M; McCormick D; Hannan S; Cossu S; Taylor J; Akman CI; Wolf SM; Mandelbaum DE; Gupta R; van der Spek RA; Pruna D; Pal DK
    J Med Genet; 2018 Sep; 55(9):607-616. PubMed ID: 29789371
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
    Lesca G; Rudolf G; Labalme A; Hirsch E; Arzimanoglou A; Genton P; Motte J; de Saint Martin A; Valenti MP; Boulay C; De Bellescize J; Kéo-Kosal P; Boutry-Kryza N; Edery P; Sanlaville D; Szepetowski P
    Epilepsia; 2012 Sep; 53(9):1526-38. PubMed ID: 22738016
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
    Hartmann C; von Spiczak S; Suls A; Weckhuysen S; Buyse G; Vilain C; Van Bogaert P; De Jonghe P; Cook J; Muhle H; Stephani U; Helbig I; Mefford HC
    Epilepsia; 2015 Mar; 56(3):e26-32. PubMed ID: 25690317
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With
    Tascón-Arcila J; Rojas-Jiménez S; Cornejo-Sánchez D; Gómez-Builes P; Ucroz-Benavides A; Holguín BM; Restrepo-Arbeláez D; Gómez-Castillo C; Solarte-Mia R; Cornejo-Ochoa W; Pineda-Trujillo N
    J Child Neurol; 2021 Sep; 36(10):875-882. PubMed ID: 34039076
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
    Striano P; Coppola A; Paravidino R; Malacarne M; Gimelli S; Robbiano A; Traverso M; Pezzella M; Belcastro V; Bianchi A; Elia M; Falace A; Gazzerro E; Ferlazzo E; Freri E; Galasso R; Gobbi G; Molinatto C; Cavani S; Zuffardi O; Striano S; Ferrero GB; Silengo M; Cavaliere ML; Benelli M; Magi A; Piccione M; Dagna Bricarelli F; Coviello DA; Fichera M; Minetti C; Zara F
    Arch Neurol; 2012 Mar; 69(3):322-30. PubMed ID: 22083797
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.
    Naseer MI; Faheem M; Chaudhary AG; Kumosani TA; Al-Quaiti MM; Jan MM; Saleh Jamal H; Al-Qahtani MH
    BMC Genomics; 2015; 16 Suppl 1(Suppl 1):S10. PubMed ID: 25923336
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
    Reutlinger C; Helbig I; Gawelczyk B; Subero JI; Tönnies H; Muhle H; Finsterwalder K; Vermeer S; Pfundt R; Sperner J; Stefanova I; Gillessen-Kaesbach G; von Spiczak S; van Baalen A; Boor R; Siebert R; Stephani U; Caliebe A
    Epilepsia; 2010 Sep; 51(9):1870-3. PubMed ID: 20384727
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population.
    Che XQ; Sun ZF; Mao X; Xia K; Yan XX; Jiang H; Shen L; Li N; Tang BS
    Int J Neurosci; 2017 Jan; 127(1):10-13. PubMed ID: 26954261
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
    Lesca G; Møller RS; Rudolf G; Hirsch E; Hjalgrim H; Szepetowski P
    Epileptic Disord; 2019 Jun; 21(S1):41-47. PubMed ID: 31149903
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Towards the identification of a genetic basis for Landau-Kleffner syndrome.
    Conroy J; McGettigan PA; McCreary D; Shah N; Collins K; Parry-Fielder B; Moran M; Hanrahan D; Deonna TW; Korff CM; Webb D; Ennis S; Lynch SA; King MD
    Epilepsia; 2014 Jun; 55(6):858-65. PubMed ID: 24828792
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Copy number variations in a population-based study of Charcot-Marie-Tooth disease.
    Høyer H; Braathen GJ; Eek AK; Nordang GB; Skjelbred CF; Russell MB
    Biomed Res Int; 2015; 2015():960404. PubMed ID: 25648254
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
    Reinthaler EM; Lal D; Lebon S; Hildebrand MS; Dahl HH; Regan BM; Feucht M; Steinböck H; Neophytou B; Ronen GM; Roche L; Gruber-Sedlmayr U; Geldner J; Haberlandt E; Hoffmann P; Herms S; Gieger C; Waldenberger M; Franke A; Wittig M; Schoch S; Becker AJ; Hahn A; Männik K; Toliat MR; Winterer G; ; Lerche H; Nürnberg P; Mefford H; Scheffer IE; Berkovic SF; Beckmann JS; ; ; Sander T; Jacquemont S; Reymond A; Zimprich F; Neubauer BA
    Hum Mol Genet; 2014 Nov; 23(22):6069-80. PubMed ID: 24939913
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The high frequency of chromosomal copy number variations and candidate genes in epilepsy patients.
    Albuz B; Ozdemir O; Silan F
    Clin Neurol Neurosurg; 2021 Mar; 202():106487. PubMed ID: 33484953
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.
    Yang L; You C; Qiu S; Yang X; Li Y; Liu F; Zhang D; Niu Y; Xu L; Xu N; Li X; Luo F; Yang J; Li B
    Brain Behav; 2020 May; 10(5):e01597. PubMed ID: 32237035
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rare gene deletions in genetic generalized and Rolandic epilepsies.
    Jabbari K; Bobbili DR; Lal D; Reinthaler EM; Schubert J; Wolking S; Sinha V; Motameny S; Thiele H; Kawalia A; Altmüller J; Toliat MR; Kraaij R; van Rooij J; Uitterlinden AG; Ikram MA; ; Zara F; Lehesjoki AE; Krause R; Zimprich F; Sander T; Neubauer BA; May P; Lerche H; Nürnberg P
    PLoS One; 2018; 13(8):e0202022. PubMed ID: 30148849
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
    Marini C; Scheffer IE; Nabbout R; Mei D; Cox K; Dibbens LM; McMahon JM; Iona X; Carpintero RS; Elia M; Cilio MR; Specchio N; Giordano L; Striano P; Gennaro E; Cross JH; Kivity S; Neufeld MY; Afawi Z; Andermann E; Keene D; Dulac O; Zara F; Berkovic SF; Guerrini R; Mulley JC
    Epilepsia; 2009 Jul; 50(7):1670-8. PubMed ID: 19400878
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
    Pérez-Palma E; Helbig I; Klein KM; Anttila V; Horn H; Reinthaler EM; Gormley P; Ganna A; Byrnes A; Pernhorst K; Toliat MR; Saarentaus E; Howrigan DP; Hoffman P; Miquel JF; De Ferrari GV; Nürnberg P; Lerche H; Zimprich F; Neubauer BA; Becker AJ; Rosenow F; Perucca E; Zara F; Weber YG; Lal D
    J Med Genet; 2017 Sep; 54(9):598-606. PubMed ID: 28756411
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes.
    Panayiotopoulos CP; Michael M; Sanders S; Valeta T; Koutroumanidis M
    Brain; 2008 Sep; 131(Pt 9):2264-86. PubMed ID: 18718967
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.