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2. Three novel DNMT3B mutations in Japanese patients with ICF syndrome. Shirohzu H; Kubota T; Kumazawa A; Sado T; Chijiwa T; Inagaki K; Suetake I; Tajima S; Wakui K; Miki Y; Hayashi M; Fukushima Y; Sasaki H Am J Med Genet; 2002 Sep; 112(1):31-7. PubMed ID: 12239717 [TBL] [Abstract][Full Text] [Related]
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4. DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Jin B; Tao Q; Peng J; Soo HM; Wu W; Ying J; Fields CR; Delmas AL; Liu X; Qiu J; Robertson KD Hum Mol Genet; 2008 Mar; 17(5):690-709. PubMed ID: 18029387 [TBL] [Abstract][Full Text] [Related]
5. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). Hagleitner MM; Lankester A; Maraschio P; Hultén M; Fryns JP; Schuetz C; Gimelli G; Davies EG; Gennery A; Belohradsky BH; de Groot R; Gerritsen EJ; Mattina T; Howard PJ; Fasth A; Reisli I; Furthner D; Slatter MA; Cant AJ; Cazzola G; van Dijken PJ; van Deuren M; de Greef JC; van der Maarel SM; Weemaes CM J Med Genet; 2008 Feb; 45(2):93-9. PubMed ID: 17893117 [TBL] [Abstract][Full Text] [Related]
6. Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication. Hassan KM; Norwood T; Gimelli G; Gartler SM; Hansen RS Hum Genet; 2001 Oct; 109(4):452-62. PubMed ID: 11702227 [TBL] [Abstract][Full Text] [Related]
7. Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions. Yehezkel S; Segev Y; Viegas-Péquignot E; Skorecki K; Selig S Hum Mol Genet; 2008 Sep; 17(18):2776-89. PubMed ID: 18558631 [TBL] [Abstract][Full Text] [Related]
8. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Chouery E; Abou-Ghoch J; Corbani S; El Ali N; Korban R; Salem N; Castro C; Klayme S; Azoury-Abou Rjeily M; Khoury-Matar R; Debo G; Germanos-Haddad M; Delague V; Lefranc G; Mégarbané A Clin Genet; 2012 Nov; 82(5):489-93. PubMed ID: 21906047 [TBL] [Abstract][Full Text] [Related]
9. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Xu GL; Bestor TH; Bourc'his D; Hsieh CL; Tommerup N; Bugge M; Hulten M; Qu X; Russo JJ; Viegas-Péquignot E Nature; 1999 Nov; 402(6758):187-91. PubMed ID: 10647011 [TBL] [Abstract][Full Text] [Related]
10. Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L. Xie ZH; Huang YN; Chen ZX; Riggs AD; Ding JP; Gowher H; Jeltsch A; Sasaki H; Hata K; Xu GL Hum Mol Genet; 2006 May; 15(9):1375-85. PubMed ID: 16543361 [TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
12. ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. Moarefi AH; Chédin F J Mol Biol; 2011 Jun; 409(5):758-72. PubMed ID: 21549127 [TBL] [Abstract][Full Text] [Related]
13. Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells. Tao Q; Huang H; Geiman TM; Lim CY; Fu L; Qiu GH; Robertson KD Hum Mol Genet; 2002 Sep; 11(18):2091-102. PubMed ID: 12189161 [TBL] [Abstract][Full Text] [Related]
14. X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Hansen RS Hum Mol Genet; 2003 Oct; 12(19):2559-67. PubMed ID: 12925568 [TBL] [Abstract][Full Text] [Related]
16. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Hansen RS; Wijmenga C; Luo P; Stanek AM; Canfield TK; Weemaes CM; Gartler SM Proc Natl Acad Sci U S A; 1999 Dec; 96(25):14412-7. PubMed ID: 10588719 [TBL] [Abstract][Full Text] [Related]
17. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients. Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590 [TBL] [Abstract][Full Text] [Related]
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19. Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome. Simo-Riudalbas L; Diaz-Lagares A; Gatto S; Gagliardi M; Crujeiras AB; Matarazzo MR; Esteller M; Sandoval J PLoS One; 2015; 10(7):e0132517. PubMed ID: 26161907 [TBL] [Abstract][Full Text] [Related]
20. Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2. van den Boogaard ML; Thijssen PE; Aytekin C; Licciardi F; Kıykım AA; Spossito L; Dalm VASH; Driessen GJ; Kersseboom R; de Vries F; van Ostaijen-Ten Dam MM; Ikinciogullari A; Dogu F; Oleastro M; Bailardo E; Daxinger L; Nain E; Baris S; van Tol MJD; Weemaes C; van der Maarel SM Clin Genet; 2017 Oct; 92(4):380-387. PubMed ID: 28128455 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]