PubMed

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. Epub 2007 Sep 24.PMID: 17893117 [PubMed - indexed for MEDLINE]Related articles

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Ehrlich M, Jackson K, Weemaes C.

Orphanet J Rare Dis. 2006 Mar 1;1:2. Review.PMID: 16722602 [PubMed - indexed for MEDLINE]Related articlesFree article

A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.

Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Güngör T.

Am J Med Genet A. 2005 Jul 1;136(1):31-7. Erratum in: Am J Med Genet A. 2005 Oct 1;138(2):195. PMID: 15952214 [PubMed - indexed for MEDLINE]Related articles

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

Wijmenga C, Hansen RS, Gimelli G, Björck EJ, Davies EG, Valentine D, Belohradsky BH, van Dongen JJ, Smeets DF, van den Heuvel LP, Luyten JA, Strengman E, Weemaes C, Pearson PL.

Hum Mutat. 2000 Dec;16(6):509-17. Review.PMID: 11102980 [PubMed - indexed for MEDLINE]Related articles

The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease.

Ehrlich M.

Clin Immunol. 2003 Oct;109(1):17-28. Review.PMID: 14585272 [PubMed - indexed for MEDLINE]Related articles

Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

Gennery AR, Slatter MA, Bredius RG, Hagleitner MM, Weemaes C, Cant AJ, Lankester AC.

Pediatrics. 2007 Nov;120(5):e1341-4. Epub 2007 Oct 1.PMID: 17908720 [PubMed - indexed for MEDLINE]Related articlesFree article

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

Jiang YL, Rigolet M, Bourc'his D, Nigon F, Bokesoy I, Fryns JP, Hultén M, Jonveaux P, Maraschio P, Mégarbané A, Moncla A, Viegas-Péquignot E.

Hum Mutat. 2005 Jan;25(1):56-63.PMID: 15580563 [PubMed - indexed for MEDLINE]Related articles

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 7;96(25):14412-7.PMID: 10588719 [PubMed - indexed for MEDLINE]Related articlesFree article

Defective B-cell-negative selection and terminal differentiation in the ICF syndrome.

Blanco-Betancourt CE, Moncla A, Milili M, Jiang YL, Viegas-Péquignot EM, Roquelaure B, Thuret I, Schiff C.

Blood. 2004 Apr 1;103(7):2683-90. Epub 2003 Nov 26.PMID: 14645008 [PubMed - indexed for MEDLINE]Related articlesFree article

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, Uicker W, Weemaes CM, Smeets D, Sperling K, Belohradsky BH, Tommerup N, Misek DE, Rouillard JM, Kuick R, Hanash SM.

Hum Mol Genet. 2001 Dec 1;10(25):2917-31.PMID: 11741835 [PubMed - indexed for MEDLINE]Related articlesFree article

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 1;17(5):690-709. Epub 2007 Nov 20.PMID: 18029387 [PubMed - indexed for MEDLINE]Related articlesFree article

Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

Ueda Y, Okano M, Williams C, Chen T, Georgopoulos K, Li E.

Development. 2006 Mar;133(6):1183-92.PMID: 16501171 [PubMed - indexed for MEDLINE]Related articlesFree article

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 15;112(1):31-7.PMID: 12239717 [PubMed - indexed for MEDLINE]Related articles

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 1;11(18):2091-102.PMID: 12189161 [PubMed - indexed for MEDLINE]Related articlesFree article

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG.

Eur J Hum Genet. 2005 Jan;13(1):41-51.PMID: 15470359 [PubMed - indexed for MEDLINE]Related articlesFree article

DNA methyltransferase 3B mutant in ICF syndrome interacts non-covalently with SUMO-1.

Park J, Kim TY, Jung Y, Song SH, Kim SH, Oh DY, Im SA, Bang YJ.

J Mol Med. 2008 Nov;86(11):1269-77. Epub 2008 Sep 2.PMID: 18762900 [PubMed - indexed for MEDLINE]Related articles

DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients.

Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M.

Cytogenet Cell Genet. 2000;89(1-2):121-8.PMID: 10894953 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 11702227 [PubMed - indexed for MEDLINE]Related articles

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 11;402(6758):187-91.PMID: 10647011 [PubMed - indexed for MEDLINE]Related articles

ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

Schuetz C, Barbi G, Barth TF, Hoenig M, Schulz A, Möeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin KM, Friedrich W.

Am J Med Genet A. 2007 Sep 1;143A(17):2052-7.PMID: 17702009 [PubMed - indexed for MEDLINE]Related articles