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 *

168 related articles for article (PubMed ID: 37738575)

  • 1. Divergent phenotypes in constitutive versus conditional mutant mouse models of Sifrim-Hitz-Weiss syndrome.
    Larrigan S; Joshi SV; Mattar P
    Hum Mol Genet; 2023 Dec; 32(24):3361-3373. PubMed ID: 37738575
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
    Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
    Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Chromatin remodeling protein CHD4 regulates axon guidance of spiral ganglion neurons in developing cochlea.
    Kim J; Martinez E; Qiu J; Zhouli Ni J; Kwan KY
    bioRxiv; 2024 Feb; ():. PubMed ID: 38352369
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Frameshift
    Da Silva JD; Oliva-Teles N; Tkachenko N; Fino J; Marques M; Fortuna AM; David D
    Biomedicines; 2022 Dec; 11(1):. PubMed ID: 36672520
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome].
    Zhou X; Wang Q; Liu Y; Liu J; Yuan H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jan; 38(1):63-66. PubMed ID: 33423261
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency.
    Zeka N; Zeka E; Zhubi E; Hoxha I
    Front Pediatr; 2023; 11():1230056. PubMed ID: 37732012
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations.
    Farnung L; Ochmann M; Cramer P
    Elife; 2020 Jun; 9():. PubMed ID: 32543371
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
    Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
    Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Dysregulation of Neurite Outgrowth and Cell Migration in Autism and Other Neurodevelopmental Disorders.
    Prem S; Millonig JH; DiCicco-Bloom E
    Adv Neurobiol; 2020; 25():109-153. PubMed ID: 32578146
    [TBL] [Abstract][Full Text] [Related]  

  • 10. DDX3X syndrome: From clinical phenotypes to biological insights.
    von Mueffling A; Garcia-Forn M; De Rubeis S
    J Neurochem; 2024 Sep; 168(9):2147-2154. PubMed ID: 38976626
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
    Snijders Blok L; Rousseau J; Twist J; Ehresmann S; Takaku M; Venselaar H; Rodan LH; Nowak CB; Douglas J; Swoboda KJ; Steeves MA; Sahai I; Stumpel CTRM; Stegmann APA; Wheeler P; Willing M; Fiala E; Kochhar A; Gibson WT; Cohen ASA; Agbahovbe R; Innes AM; Au PYB; Rankin J; Anderson IJ; Skinner SA; Louie RJ; Warren HE; Afenjar A; Keren B; Nava C; Buratti J; Isapof A; Rodriguez D; Lewandowski R; Propst J; van Essen T; Choi M; Lee S; Chae JH; Price S; Schnur RE; Douglas G; Wentzensen IM; Zweier C; Reis A; Bialer MG; Moore C; Koopmans M; Brilstra EH; Monroe GR; van Gassen KLI; van Binsbergen E; Newbury-Ecob R; Bownass L; Bader I; Mayr JA; Wortmann SB; Jakielski KJ; Strand EA; Kloth K; Bierhals T; ; Roberts JD; Petrovich RM; Machida S; Kurumizaka H; Lelieveld S; Pfundt R; Jansen S; Deriziotis P; Faivre L; Thevenon J; Assoum M; Shriberg L; Kleefstra T; Brunner HG; Wade PA; Fisher SE; Campeau PM
    Nat Commun; 2018 Nov; 9(1):4619. PubMed ID: 30397230
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
    Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M
    Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?
    Bonefas KM; Iwase S
    FEBS J; 2022 Apr; 289(8):2301-2317. PubMed ID: 34514717
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Generation of a Well-Characterized Homozygous Chromodomain-Helicase-DNA-Binding Protein 4
    Chohra I; Giri S; Malgrange B
    Int J Mol Sci; 2023 Jun; 24(13):. PubMed ID: 37445725
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities.
    Leach PT; Crawley JN
    Genes Brain Behav; 2018 Jul; 17(6):e12452. PubMed ID: 29266714
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Foxp1 in Forebrain Pyramidal Neurons Controls Gene Expression Required for Spatial Learning and Synaptic Plasticity.
    Araujo DJ; Toriumi K; Escamilla CO; Kulkarni A; Anderson AG; Harper M; Usui N; Ellegood J; Lerch JP; Birnbaum SG; Tucker HO; Powell CM; Konopka G
    J Neurosci; 2017 Nov; 37(45):10917-10931. PubMed ID: 28978667
    [TBL] [Abstract][Full Text] [Related]  

  • 17. OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
    Uddin M; Unda BK; Kwan V; Holzapfel NT; White SH; Chalil L; Woodbury-Smith M; Ho KS; Harward E; Murtaza N; Dave B; Pellecchia G; D'Abate L; Nalpathamkalam T; Lamoureux S; Wei J; Speevak M; Stavropoulos J; Hope KJ; Doble BW; Nielsen J; Wassman ER; Scherer SW; Singh KK
    Am J Hum Genet; 2018 Feb; 102(2):278-295. PubMed ID: 29395074
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analyses of Conditional Knockout Mice for
    Hamada N; Nishijo T; Iwamoto I; Shifman S; Nagata KI
    Cells; 2024 Mar; 13(6):. PubMed ID: 38534384
    [TBL] [Abstract][Full Text] [Related]  

  • 19. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
    Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
    Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.