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 *

120 related articles for article (PubMed ID: 38385826)

  • 21. Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome: A scoping review.
    Korteling D; Musch JLI; Zinkstok JR; Boot E
    Am J Med Genet B Neuropsychiatr Genet; 2024 Mar; 195(2):e32956. PubMed ID: 37584268
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Chromatin Remodeling Proteins in Epilepsy: Lessons From
    Lamar KJ; Carvill GL
    Front Mol Neurosci; 2018; 11():208. PubMed ID: 29962935
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Lebrun N; Parent P; Gendras J; Billuart P; Poirier K; Bienvenu T
    Clin Genet; 2017 Dec; 92(6):669-670. PubMed ID: 28960266
    [TBL] [Abstract][Full Text] [Related]  

  • 24. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
    Thomas RH; Zhang LM; Carvill GL; Archer JS; Heavin SB; Mandelstam SA; Craiu D; Berkovic SF; Gill DS; Mefford HC; Scheffer IE;
    Neurology; 2015 Mar; 84(9):951-8. PubMed ID: 25672921
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.
    Xie Y; Luo J; Zhong J; Liu X; Tang J; Lan D
    Mol Genet Genomic Med; 2023 Jun; 11(6):e2161. PubMed ID: 36897110
    [TBL] [Abstract][Full Text] [Related]  

  • 26. CHD2-Related CNS Pathologies.
    Wilson MM; Henshall DC; Byrne SM; Brennan GP
    Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33435571
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
    Lee M; Lui ACY; Chan JCK; Doong PHL; Kwong AKY; Mak CCY; Li RHW; Kan ASY; Chung BHY
    Hum Genomics; 2023 Oct; 17(1):91. PubMed ID: 37798624
    [TBL] [Abstract][Full Text] [Related]  

  • 28. CHD2 variants are a risk factor for photosensitivity in epilepsy.
    Galizia EC; Myers CT; Leu C; de Kovel CG; Afrikanova T; Cordero-Maldonado ML; Martins TG; Jacmin M; Drury S; Krishna Chinthapalli V; Muhle H; Pendziwiat M; Sander T; Ruppert AK; Møller RS; Thiele H; Krause R; Schubert J; Lehesjoki AE; Nürnberg P; Lerche H; ; Palotie A; Coppola A; Striano S; Gaudio LD; Boustred C; Schneider AL; Lench N; Jocic-Jakubi B; Covanis A; Capovilla G; Veggiotti P; Piccioli M; Parisi P; Cantonetti L; Sadleir LG; Mullen SA; Berkovic SF; Stephani U; Helbig I; Crawford AD; Esguerra CV; Kasteleijn-Nolst Trenité DG; Koeleman BP; Mefford HC; Scheffer IE; Sisodiya SM
    Brain; 2015 May; 138(Pt 5):1198-207. PubMed ID: 25783594
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
    Clara-Hwang A; Stefani S; Lau T; Scala M; Aynekin B; Bernardo P; Madia F; Bakhtadze S; Kaiyrzhanov R; Maroofian R; Zara F; Srinivasan VM; Gowda V; Guliyeva U; Montavont A; Poulat AL; Güleç A; Berger C; Ville DM; de Bellescize J; Cabet S; Wonneberger A; Schulz A; Rodriguez-Palmero A; Chatron N; Lesca G; Per H; Goel H; Brown J; Frey T; Steindl K; Rauch A; Severino M; Houlden H; Nicolaides P; Striano P; Efthymiou S
    Neurol Genet; 2024 Aug; 10(4):e200168. PubMed ID: 39035822
    [TBL] [Abstract][Full Text] [Related]  

  • 30. CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.
    Angelopoulou E; Theodosiou A; Papaevripidou I; Alexandrou A; Liehr T; Gyftodimou Y; Stefanou EG; Sismani C
    Heliyon; 2023 Dec; 9(12):e22987. PubMed ID: 38125503
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
    Rive Le Gouard N; Jacquinet A; Ruaud L; Deleersnyder H; Ageorges F; Gallard J; Lacombe D; Odent S; Mikaty M; Manouvrier-Hanu S; Ghoumid J; Geneviève D; Lehman N; Philip N; Edery P; Héron D; Rastel C; Chancenotte S; Thauvin-Robinet C; Faivre L; Perrin L; Verloes A
    Clin Genet; 2021 Apr; 99(4):519-528. PubMed ID: 33368193
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.
    Alaimo JT; Barton LV; Mullegama SV; Wills RD; Foster RH; Elsea SH
    Res Dev Disabil; 2015 Dec; 47():27-38. PubMed ID: 26323055
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Autism spectrum disorder/development delay in siblings with SCN2A mutations caused by germline mosaicism].
    Zhang P; Gao Z; Jia J; Chen Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Nov; 38(11):1097-1100. PubMed ID: 34729751
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical Study of 8 Cases of
    Luo X; Sun X; Wang Y; Lin L; Yuan F; Wang S; Zhang W; Ji X; Liu M; Wu S; Lan X; Zhang J; Yan J; Zeng F; Chen Y
    Front Cell Dev Biol; 2022; 10():853127. PubMed ID: 35386198
    [No Abstract]   [Full Text] [Related]  

  • 35. Germline mosaicism in a family with
    Bhatia M; Cavalleri GL; White M; Delanty N; Sweeney BJ; Costello DJ; Greally MT; Benson KA
    Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36396431
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
    Rinaldi B; Villa R; Sironi A; Garavelli L; Finelli P; Bedeschi MF
    Genes (Basel); 2022 Feb; 13(2):. PubMed ID: 35205380
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Sleep disturbance associated with Smith-Magenis syndrome].
    Pan M; Chen L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1262-1265. PubMed ID: 34839521
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Multi-exon
    Strang-Karlsson S; Keigwin S; Anttonen AK; Baker D; Bean K; Jakkula E
    Clin Case Rep; 2022 Oct; 10(10):e6455. PubMed ID: 36245460
    [TBL] [Abstract][Full Text] [Related]  

  • 40. CHD2 mutations in Lennox-Gastaut syndrome.
    Lund C; Brodtkorb E; Øye AM; Røsby O; Selmer KK
    Epilepsy Behav; 2014 Apr; 33():18-21. PubMed ID: 24614520
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.