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 *

148 related articles for article (PubMed ID: 32539280)

  • 1. Anesthetic Management of an Infant With Kleefstra Syndrome During Direct Laryngoscopy and Rigid Bronchoscopy: A Case Report.
    Yamaguchi Y; D'Mello A; Willer BL; Argote-Romero G; Tobias JD
    A A Pract; 2020 May; 14(7):e01222. PubMed ID: 32539280
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
    Guterman S; Hervé B; Rivière J; Fauvert D; Clement P; Vialard F
    J Obstet Gynaecol Res; 2018 Mar; 44(3):570-575. PubMed ID: 29160022
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.
    Balemans MC; Ansar M; Oudakker AR; van Caam AP; Bakker B; Vitters EL; van der Kraan PM; de Bruijn DR; Janssen SM; Kuipers AJ; Huibers MM; Maliepaard EM; Walboomers XF; Benevento M; Nadif Kasri N; Kleefstra T; Zhou H; Van der Zee CE; van Bokhoven H
    Dev Biol; 2014 Feb; 386(2):395-407. PubMed ID: 24362066
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Otopathology in Kleefstra Syndrome: A Case Report.
    Okayasu T; Quesnel AM; Reinshagen KL; Nadol JB
    Laryngoscope; 2020 Aug; 130(8):2028-2033. PubMed ID: 31750954
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Kleefstra Syndrome: The First Case Report From Iran.
    Noruzinia M; Ahmadvand M; Bashti O; Salehi Chaleshtori AR
    Acta Med Iran; 2017 Oct; 55(10):650-654. PubMed ID: 29228531
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Shone's complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome).
    Kohli U
    Cardiol Young; 2019 Feb; 29(2):249-251. PubMed ID: 30585561
    [TBL] [Abstract][Full Text] [Related]  

  • 13. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
    Ciaccio C; Scuvera G; Tucci A; Gentilin B; Baccarin M; Marchisio P; Avignone S; Milani D
    Cytogenet Genome Res; 2018; 156(3):127-133. PubMed ID: 30448833
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genotype-phenotype correlations in a fetus with Kleefstra syndrome.
    Wang X; Wu J; Pang M; Liu Y; Zhai J
    Taiwan J Obstet Gynecol; 2024 Mar; 63(2):238-241. PubMed ID: 38485322
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Kleefstra syndrome 1 and ring chromosome 9 in a case].
    Lyu N; Li D; Li J; Shang Q; Ma C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):837-840. PubMed ID: 31400141
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.