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.
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. 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]
8. 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]
9. 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]
10. 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; 60(9):451-464. PubMed ID: 28645799 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
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. 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]
16. Exome sequencing identifies three novel candidate genes implicated in intellectual disability. Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Genetic analysis of three patients with Kleefstra syndrome]. Gong Y; Zhu X; Li W; Dong G; Xu B; Zhao H Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Apr; 38(4):347-350. PubMed ID: 33834462 [TBL] [Abstract][Full Text] [Related]
19. 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]
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]