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 *

207 related articles for article (PubMed ID: 26808425)

  • 1. A structured assessment of motor function and behavior in patients with Kleefstra syndrome.
    Schmidt S; Nag HE; Hunn BS; Houge G; Hoxmark LB
    Eur J Med Genet; 2016 Apr; 59(4):240-8. PubMed ID: 26808425
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.
    Okur V; Nees S; Chung WK; Krishnan U
    Am J Med Genet A; 2018 Aug; 176(8):1773-1777. PubMed ID: 30063093
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM
    PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
    Campbell CL; Collins RT; Zarate YA
    Birth Defects Res A Clin Mol Teratol; 2014 Dec; 100(12):985-90. PubMed ID: 25380126
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report.
    Marchese G; Rizzo F; Guacci A; Weisz A; Coppola G
    Neurol Sci; 2016 May; 37(5):829-31. PubMed ID: 26792009
    [No Abstract]   [Full Text] [Related]  

  • 6. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
    Blackburn PR; Tischer A; Zimmermann MT; Kemppainen JL; Sastry S; Knight Johnson AE; Cousin MA; Boczek NJ; Oliver G; Misra VK; Gavrilova RH; Lomberk G; Auton M; Urrutia R; Klee EW
    J Biol Chem; 2017 Mar; 292(9):3866-3876. PubMed ID: 28057753
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects.
    Huang Q; Xiong H; Tao Z; Yue F; Xiao N
    Eur J Med Genet; 2021 Sep; 64(9):104289. PubMed ID: 34265435
    [TBL] [Abstract][Full Text] [Related]  

  • 8. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T; Karaca E; Ozkinay E; Cogulu O
    Genet Couns; 2015; 26(4):431-5. PubMed ID: 26852514
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Altered neurite morphology and cholinergic function of induced pluripotent stem cell-derived neurons from a patient with Kleefstra syndrome and autism.
    Nagy J; Kobolák J; Berzsenyi S; Ábrahám Z; Avci HX; Bock I; Bekes Z; Hodoscsek B; Chandrasekaran A; Téglási A; Dezső P; Koványi B; Vörös ET; Fodor L; Szél T; Németh K; Balázs A; Dinnyés A; Lendvai B; Lévay G; Román V
    Transl Psychiatry; 2017 Jul; 7(7):e1179. PubMed ID: 28742076
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
    Bock I; Németh K; Pentelényi K; Balicza P; Balázs A; Molnár MJ; Román V; Nagy J; Lévay G; Kobolák J; Dinnyés A
    Gene; 2016 Dec; 595(2):131-141. PubMed ID: 27651234
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation.
    Benevento M; Oomen CA; Horner AE; Amiri H; Jacobs T; Pauwels C; Frega M; Kleefstra T; Kopanitsa MV; Grant SG; Bussey TJ; Saksida LM; Van der Zee CE; van Bokhoven H; Glennon JC; Kasri NN
    Sci Rep; 2017 Jan; 7():40284. PubMed ID: 28071689
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.
    Balemans MC; Kasri NN; Kopanitsa MV; Afinowi NO; Ramakers G; Peters TA; Beynon AJ; Janssen SM; van Summeren RC; Eeftens JM; Eikelenboom N; Benevento M; Tachibana M; Shinkai Y; Kleefstra T; van Bokhoven H; Van der Zee CE
    Hum Mol Genet; 2013 Mar; 22(5):852-66. PubMed ID: 23175442
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
    Rots D; Bouman A; Yamada A; Levy M; Dingemans AJM; de Vries BBA; Ruiterkamp-Versteeg M; de Leeuw N; Ockeloen CW; Pfundt R; de Boer E; Kummeling J; van Bon B; van Bokhoven H; Kasri NN; Venselaar H; Alders M; Kerkhof J; McConkey H; Kuechler A; Elffers B; van Beeck Calkoen R; Hofman S; Smith A; Valenzuela MI; Srivastava S; Frazier Z; Maystadt I; Piscopo C; Merla G; Balasubramanian M; Santen GWE; Metcalfe K; Park SM; Pasquier L; Banka S; Donnai D; Weisberg D; Strobl-Wildemann G; Wagemans A; Vreeburg M; Baralle D; Foulds N; Scurr I; Brunetti-Pierri N; van Hagen JM; Bijlsma EK; Hakonen AH; Courage C; Genevieve D; Pinson L; Forzano F; Deshpande C; Kluskens ML; Welling L; Plomp AS; Vanhoutte EK; Kalsner L; Hol JA; Putoux A; Lazier J; Vasudevan P; Ames E; O'Shea J; Lederer D; Fleischer J; O'Connor M; Pauly M; Vasileiou G; Reis A; Kiraly-Borri C; Bouman A; Barnett C; Nezarati M; Borch L; Beunders G; Özcan K; Miot S; Volker-Touw CML; van Gassen KLI; Cappuccio G; Janssens K; Mor N; Shomer I; Dominissini D; Tedder ML; Muir AM; Sadikovic B; Brunner HG; Vissers LELM; Shinkai Y; Kleefstra T
    Am J Hum Genet; 2024 Aug; 111(8):1605-1625. PubMed ID: 39013458
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
    Yamada A; Shimura C; Shinkai Y
    J Hum Genet; 2018 May; 63(5):555-562. PubMed ID: 29459631
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
    Jobic F; Lacot-Leriche E; Piton A; Le Moing AG; Mathieu-Dramard M; Costantini S; Morin G; Jedraszak G
    Am J Med Genet A; 2021 Dec; 185(12):3877-3883. PubMed ID: 34357686
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Object Space Task reveals increased expression of cumulative memory in a mouse model of Kleefstra syndrome.
    Schut EHS; Alonso A; Smits S; Khamassi M; Samanta A; Negwer M; Kasri NN; Navarro Lobato I; Genzel L
    Neurobiol Learn Mem; 2020 Sep; 173():107265. PubMed ID: 32531423
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Euchromatin histone methyltransferase 1 regulates cortical neuronal network development.
    Martens MB; Frega M; Classen J; Epping L; Bijvank E; Benevento M; van Bokhoven H; Tiesinga P; Schubert D; Nadif Kasri N
    Sci Rep; 2016 Oct; 6():35756. PubMed ID: 27767173
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.
    Samango-Sprouse C; Lawson P; Sprouse C; Stapleton E; Sadeghin T; Gropman A
    Am J Med Genet A; 2016 May; 170A(5):1312-6. PubMed ID: 26833960
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
    Rots D; Rooney K; Relator R; Kerkhof J; McConkey H; Pfundt R; Marcelis C; Willemsen MH; van Hagen JM; Zwijnenburg P; Alders M; Õunap K; Reimand T; Fjodorova O; Berland S; Liahjell EB; Bojovic O; Kriek M; Ruivenkamp C; Bonati MT; Brunner HG; Vissers LELM; Sadikovic B; Kleefstra T
    Clin Genet; 2024 Jun; 105(6):655-660. PubMed ID: 38384171
    [TBL] [Abstract][Full Text] [Related]  

  • 20. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C; Meunier-Cussac S; Madigand J
    Neurocase; 2021 Jun; 27(3):227-230. PubMed ID: 34010111
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.