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128 related items for PubMed ID: 39147273

  • 1. The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.
    Da Cás E, Pires LVL, Linnenkamp BDW, Allegro MC, Honjo RS, Bertola DR, Aoi H, Matsumoto N, Kim CA.
    Eur J Med Genet; 2024 Oct; 71():104966. PubMed ID: 39147273
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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 Aug; 156(3):127-133. PubMed ID: 30448833
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.
    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 03; 292(9):3866-3876. PubMed ID: 28057753
    [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 03; 100(12):985-90. PubMed ID: 25380126
    [Abstract] [Full Text] [Related]

  • 7. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
    Atik T, Karaca E, Ozkinay E, Cogulu O.
    Genet Couns; 2015 Dec 03; 26(4):431-5. PubMed ID: 26852514
    [Abstract] [Full Text] [Related]

  • 8. 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 03; 185(12):3877-3883. PubMed ID: 34357686
    [Abstract] [Full Text] [Related]

  • 9. [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 10; 36(8):837-840. PubMed ID: 31400141
    [Abstract] [Full Text] [Related]

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

  • 11. 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 10; 105(6):655-660. PubMed ID: 38384171
    [Abstract] [Full Text] [Related]

  • 12. 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 08; 111(8):1605-1625. PubMed ID: 39013458
    [Abstract] [Full Text] [Related]

  • 13. 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 08; 44(3):570-575. PubMed ID: 29160022
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 386(2):395-407. PubMed ID: 24362066
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 37(5):829-31. PubMed ID: 26792009
    [No Abstract] [Full Text] [Related]

  • 16. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C, Meunier-Cussac S, Madigand J.
    Neurocase; 2021 Jun 15; 27(3):227-230. PubMed ID: 34010111
    [Abstract] [Full Text] [Related]

  • 17. 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 25; 7(7):e1179. PubMed ID: 28742076
    [Abstract] [Full Text] [Related]

  • 18. 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 25; 59(4):240-8. PubMed ID: 26808425
    [Abstract] [Full Text] [Related]

  • 19. Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
    Huang LY, Yang Y, He P, Li DZ.
    J Obstet Gynaecol; 2017 Apr 25; 37(3):327-329. PubMed ID: 27966372
    [Abstract] [Full Text] [Related]

  • 20. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
    Asadollahi R, Zweier M, Gogoll L, Schiffmann R, Sticht H, Steindl K, Rauch A.
    Eur J Med Genet; 2017 Sep 25; 60(9):451-464. PubMed ID: 28645799
    [Abstract] [Full Text] [Related]

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