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161 related items for PubMed ID: 35108799

  • 1. Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation.
    Cheema HA, Waheed N, Saeed A.
    J Coll Physicians Surg Pak; 2022 Feb; 32(2):236-238. PubMed ID: 35108799
    [Abstract] [Full Text] [Related]

  • 2. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
    Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Vissers LELM, Kleefstra T, Weksberg R, Banka S.
    Am J Hum Genet; 2024 Aug 08; 111(8):1626-1642. PubMed ID: 39013459
    [Abstract] [Full Text] [Related]

  • 3. Kleefstra Syndrome.
    Aydin H, Bucak IH, Bagis H.
    J Coll Physicians Surg Pak; 2022 Apr 08; 32(4):S76-S78. PubMed ID: 35633020
    [Abstract] [Full Text] [Related]

  • 4. A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.
    Whitford W, Taylor J, Hayes I, Smith W, Snell RG, Lehnert K, Jacobsen JC.
    Mol Genet Genomic Med; 2024 Jan 08; 12(1):e2350. PubMed ID: 38146907
    [Abstract] [Full Text] [Related]

  • 5. 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 08; 13(10):e1006864. PubMed ID: 29069077
    [Abstract] [Full Text] [Related]

  • 6. 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 08; 176(8):1773-1777. PubMed ID: 30063093
    [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 Aug 08; 26(4):431-5. PubMed ID: 26852514
    [Abstract] [Full Text] [Related]

  • 8. 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 08; 100(12):985-90. PubMed ID: 25380126
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 03; 64(9):104289. PubMed ID: 34265435
    [Abstract] [Full Text] [Related]

  • 11. 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 03; 37(5):829-31. PubMed ID: 26792009
    [No Abstract] [Full Text] [Related]

  • 12. 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 May 03; 156(3):127-133. PubMed ID: 30448833
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 60(9):451-464. PubMed ID: 28645799
    [Abstract] [Full Text] [Related]

  • 14. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E, Cavdarli B, Karaoguz MY, Percin FE.
    Genet Couns; 2012 Sep 03; 23(4):465-71. PubMed ID: 23431745
    [Abstract] [Full Text] [Related]

  • 15. First episode of psychosis in Kleefstra syndrome: a case report.
    De Taevernier C, Meunier-Cussac S, Madigand J.
    Neurocase; 2021 Jun 03; 27(3):227-230. PubMed ID: 34010111
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 03; 59(4):240-8. PubMed ID: 26808425
    [Abstract] [Full Text] [Related]

  • 18. Kleefstra Syndrome: The First Case Report From Iran.
    Noruzinia M, Ahmadvand M, Bashti O, Salehi Chaleshtori AR.
    Acta Med Iran; 2017 Oct 03; 55(10):650-654. PubMed ID: 29228531
    [Abstract] [Full Text] [Related]

  • 19. [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]

  • 20. KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.
    Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW.
    Clin Epigenetics; 2020 Jan 10; 12(1):10. PubMed ID: 31924266
    [Abstract] [Full Text] [Related]

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