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Items: 1 to 20 of 116

1.

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H.

J Hum Genet. 2013 Jul;58(7):455-60. doi: 10.1038/jhg.2013.56.

PMID:
23739126
2.

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. doi: 10.1111/j.1399-0004.2011.01783.x.

PMID:
21906047
3.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DF, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJ, van den Elsen PJ, Weemaes CM, van der Maarel SM.

Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018.

4.

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.

5.

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome.

Dupont C, Guimiot F, Perrin L, Marey I, Smiljkovski D, Le Tessier D, Lebugle C, Baumann C, Bourdoncle P, Tabet AC, Aboura A, Benzacken B, Dupont JM.

Clin Genet. 2012 Aug;82(2):187-92. doi: 10.1111/j.1399-0004.2011.01697.x.

PMID:
21554265
6.

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
7.

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.

8.

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM.

Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6.

9.

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
10.

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
11.

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.

Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y, Fouyssac F, Mégarbané A, Sasaki H, Picard C, Francastel C.

Orphanet J Rare Dis. 2014 Apr 17;9:56. doi: 10.1186/1750-1172-9-56.

12.

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM.

Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40.

13.

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.

14.

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.

15.

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A, Bourc'his D, Viegas-Péquignot E, Ehrlich M, Hanash SM.

Hum Mol Genet. 2000 Mar 1;9(4):597-604.

16.

DNA demethylation and pericentromeric rearrangements of chromosome 1.

Ji W, Hernandez R, Zhang XY, Qu GZ, Frady A, Varela M, Ehrlich M.

Mutat Res. 1997 Sep 5;379(1):33-41.

PMID:
9330620
17.

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
18.

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
19.

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

Ehrlich M, Jackson K, Weemaes C.

Orphanet J Rare Dis. 2006 Mar 1;1:2. Review.

20.

Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients.

Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C, Fischer A, Niveleau A, Viegas-Péquignot E.

Hum Mol Genet. 1994 Dec;3(12):2093-102.

PMID:
7881405
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