1 |
Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
6
61
|
Thijssen PE...Sasaki H
|
26216346 |
2015 |
2 |
A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
61
6
|
Chouery E...Megarbane A
|
21906047 |
2012 |
3 |
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
6
61
|
de Greef JC...van der Maarel SM
|
21596365 |
2011 |
4 |
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.
61
6
|
Kloeckener-Gruissem B...Gungor T
|
15952214 |
2005 |
5 |
X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis.
61
6
|
Hansen RS
|
12925568 |
2003 |
6 |
Three novel DNMT3B mutations in Japanese patients with ICF syndrome.
61
6
|
Shirohzu H...Sasaki H
|
12239717 |
2002 |
7 |
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
61
6
|
Xu GL...Viegas-Pequignot E
|
10647011 |
1999 |
8 |
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.
61
6
|
Okano M...Li E
|
10555141 |
1999 |
9 |
Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.
6
|
Braegger C...Schinzel A
|
1999836 |
1991 |
10 |
Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1, 9, and 16.
6
|
Carpenter NJ...Berkel AI
|
3361388 |
1988 |
11 |
Clinical, Immunologic, and Molecular Spectrum of Patients with Immunodeficiency, Centromeric instability, and Facial anomalies (ICF) syndrome: a Systematic Review.
61
|
Kiaee F...Azizi G
|
32533820 |
2020 |
12 |
DNMT3B deficiency presenting as severe combined immune deficiency: A case report.
61
|
Mehawej C...Farra C
|
32360517 |
2020 |
13 |
A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.
61
|
Banday AZ...Rawat A
|
32061411 |
2020 |
14 |
Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.
61
|
Burk CM...Chong HJ
|
31520839 |
2020 |
15 |
Does DNA Methylation Matter in FSHD?
61
|
Salsi V...Tupler R
|
32121044 |
2020 |
16 |
Human subtelomeric DNA methylation: regulation and roles in telomere function.
61
|
Toubiana S...Selig S
|
32109830 |
2020 |
17 |
The human HELLS chromatin remodelling protein promotes end resection to facilitate homologous recombination and contributes to DSB repair within heterochromatin.
61
|
Kollarovic G...Chambers AL
|
31802118 |
2020 |
18 |
DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.
61
|
Vukic M...Daxinger L
|
31724723 |
2019 |
19 |
Persistent epigenetic memory impedes rescue of the telomeric phenotype in human ICF iPSCs following DNMT3B correction.
61
|
Toubiana S...Selig S
|
31738163 |
2019 |
20 |
Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation.
61
|
Aktar S...Unoki M
|
31561277 |
2019 |
21 |
Structural basis of specific DNA binding by the transcription factor ZBTB24.
61
|
Ren R...Cheng X
|
31226215 |
2019 |
22 |
A functional assay to classify ZBTB24 missense variants of unknown significance.
61
|
Wu H...Daxinger L
|
31066130 |
2019 |
23 |
An acquired high-risk chromosome instability phenotype in multiple myeloma: Jumping 1q Syndrome.
61
|
Sawyer JR...van Rhee F
|
31399558 |
2019 |
24 |
[Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome: a case report and literature review].
61
|
Hu SC...Cui GM
|
30630233 |
2019 |
25 |
CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
61
|
Unoki M...Sasaki H
|
30307408 |
2019 |
26 |
Repetitive Fragile Sites: Centromere Satellite DNA As a Source of Genome Instability in Human Diseases.
61
|
Black EM...Giunta S
|
30544645 |
2018 |
27 |
ZBTB24 is a transcriptional regulator that coordinates with DNMT3B to control DNA methylation.
61
|
Thompson JJ...Robertson KD
|
30085123 |
2018 |
28 |
Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features.
61
|
Alghamdi HA...Alzahrani MS
|
30511102 |
2018 |
29 |
Clinical and Immunological Characterization of ICF Syndrome in Japan.
61
|
Kamae C...Nonoyama S
|
30353301 |
2018 |
30 |
Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome.
61
|
Rajshekar S...Goll M
|
30484769 |
2018 |
31 |
Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric instability and Facial anomalies syndrome.
61
|
Toubiana S...Selig S
|
30010917 |
2018 |
32 |
Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state.
61
|
Velasco G...Francastel C
|
29659838 |
2018 |
33 |
HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome.
61
|
Jenness C...Funabiki H
|
29339483 |
2018 |
34 |
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
61
|
Sagie S...Selig S
|
28973513 |
2017 |
35 |
Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.
61
|
van den Boogaard ML...van der Maarel SM
|
28128455 |
2017 |
36 |
Lsh/HELLS regulates self-renewal/proliferation of neural stem/progenitor cells.
61
|
Han Y...Muegge K
|
28442710 |
2017 |
37 |
Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.
61
|
Sagie S...Selig S
|
28117327 |
2017 |
38 |
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.
61
|
Gossling KL...Kuhlen M
|
28713390 |
2017 |
39 |
Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.
61
|
Kutlug S...Yildiran A
|
27604394 |
2016 |
40 |
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
61
|
Rechavi E...Simon AJ
|
27734333 |
2016 |
41 |
Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.
61
|
Wu H...Daxinger L
|
27466202 |
2016 |
42 |
Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.
61
|
Thijssen PE...Sasaki H
|
27328760 |
2016 |
43 |
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
61
|
van den Boogaard ML...van der Maarel SM
|
27153398 |
2016 |
44 |
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
61
|
Sterlin D...Picard C
|
26851945 |
2016 |
45 |
Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome.
61
|
Simo-Riudalbas L...Sandoval J
|
26161907 |
2015 |
46 |
Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells.
61
|
Huang K...Fan G
|
25027325 |
2014 |
47 |
Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).
61
|
von Bernuth H...Kaindl AM
|
25330735 |
2014 |
48 |
Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases.
61
|
Walton EL...Velasco G
|
25198254 |
2014 |
49 |
Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.
61
|
Sagie S...Selig S
|
24549038 |
2014 |
50 |
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
61
|
Velasco G...Francastel C
|
24742017 |
2014 |