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Quoted phrase not found in phrase index: "Immunodeficiency-centromeric instability-facial anomalies syndrome 2"
Page 1
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
Hum Mol Genet. 2017 Nov 1;26(21):4244-4256. doi: 10.1093/hmg/ddx313.
Hum Mol Genet. 2017.
PMID: 28973513
The majority of these telomeres display high sequence identity at the distal 2 kb of their subtelomeres, suggesting that the attenuation in DNMT3B methylation capacity affects individual telomeres to different degrees based, at least in part, on the adjacent subtelomeric s …
The majority of these telomeres display high sequence identity at the distal 2 kb of their subtelomeres, suggesting that the attenuat …
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.
Nitta H, et al.
J Hum Genet. 2013 Jul;58(7):455-60. doi: 10.1038/jhg.2013.56. Epub 2013 Jun 6.
J Hum Genet. 2013.
PMID: 23739126
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 …
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypometh …
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Maintenance of X- and Y-inactivation of the pseudoautosomal (PAR2) gene SPRY3 is independent from DNA methylation and associated to multiple layers of epigenetic modifications.
De Bonis ML, Cerase A, Matarazzo MR, Ferraro M, Strazzullo M, Hansen RS, Chiurazzi P, Neri G, D'Esposito M.
De Bonis ML, et al.
Hum Mol Genet. 2006 Apr 1;15(7):1123-32. doi: 10.1093/hmg/ddl027. Epub 2006 Feb 24.
Hum Mol Genet. 2006.
PMID: 16500999
Maintenance of X-inactivation is achieved through a combination of different repressive mechanisms, thus perpetuating the silencing message through many cell generations. The second human X-Y pseudoautosomal region 2 (PAR2) is a useful model to explore the features and int …
Maintenance of X-inactivation is achieved through a combination of different repressive mechanisms, thus perpetuating the silencing message …
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