|1.||Amiel, A: 4 articles (06/2006 - 03/2004)|
|2.||Fejgin, M D: 4 articles (06/2006 - 03/2004)|
|3.||Baumer, Alessandra: 3 articles (09/2010 - 06/2002)|
|4.||Beaudet, Arthur L: 3 articles (06/2008 - 07/2002)|
|5.||Valente, Allyson L: 2 articles (08/2015 - 01/2013)|
|6.||Barault, Ludovic: 2 articles (08/2015 - 01/2013)|
|7.||Michels, Karin B: 2 articles (08/2015 - 01/2013)|
|8.||Harris, Holly R: 2 articles (08/2015 - 01/2013)|
|9.||Shriver, Craig D: 2 articles (08/2015 - 01/2013)|
|10.||Ellsworth, Rachel E: 2 articles (08/2015 - 01/2013)|
|1.||Prader-Willi Syndrome (Syndrome, Prader-Willi)
04/01/2009 - "Fluorescence in-situ hybridization studies and methylation analysis by Southern blotting revealed deletion of the SNRPN locus on the paternally derived chromosome 15, consistent with Prader-Willi syndrome. "
01/01/1999 - "Methylation studies showed normal biparental patterns of inheritance of loci DN34/ZNF127, D15S63, and SNRPN exon 1. Results for this patient and that reported by Sun et al. support the contention that an intact genomic region and/or transcription of SNRPN exons 2 and 3 play a pivotal role in the manifestations of the major clinical phenotype in Prader-Willi syndrome."
01/01/1997 - "Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II). "
02/01/2014 - "Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype."
01/01/2013 - "The Angelman/Prader-Willi syndrome (AS/PWS) domain contains at least 8 imprinted genes regulated by a bipartite imprinting center (IC) associated with the SNRPN gene. "
|2.||Angelman Syndrome (Syndrome, Angelman)
11/13/2000 - "However, fluorescence in situ hybridization (FISH) studies showed mosaicism for a deletion of probes (D15S10 and SNRPN) from the Angelman syndrome (AS) critical region with approximately 40% of peripheral lymphocytes having the deletion. "
10/01/1998 - "Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. "
09/01/2010 - "We detected DMRs associated with known imprinted genes within the Prader-Willi/Angelman syndrome region, such as SNRPN and MAGEL2, validating this as a method of detecting imprinted loci. "
01/01/2010 - "Angelman syndrome, suspected for facial dysmorphisms and absent language, was also excluded because of the presence of a normal pattern of methylation at SNRPN locus. "
10/01/2005 - "We report here on an unexpected abnormal hybridization pattern for the 15q specific subtelomeric control probe (clone 154P1) of the commercial SNRPN probe in a girl referred for suspicion of Angelman syndrome. "
01/01/2000 - "Through the methylation analysis of the SNRPN gene, microsatellite studies of loci mapped within and outside the PWS/AS region, and fluorescence in situ hybridization (FISH) study, we confirmed the diagnosis in 35 patients: 27 with a paternal deletion, and 8 with maternal uniparental disomy (UPD). "
10/03/1997 - "Molecular studies in the family using six polymorphic markers for chromosome 15 and Southern blot analysis of DNA methylation for the CpG island near the SNRPN gene showed normal biparental inheritance of chromosome 15, excluding uniparental disomy. "
03/01/2013 - "Three GCTs with 25-26 segmental uniparental disomies (UPDs), heterozygous centromeric regions, and a highly methylated SNRPN DMR may have occurred through meiosis I error. "
08/01/1999 - "Because SMC(15) were found at an increased incidence in patients with PWS/AS, we performed methylation analysis at the SNRPN locus to exclude a deletion or uniparental disomy (UPD) of chromosome 15. "
12/02/1996 - "Results of SNRPN methylation were consistent with known deletion or uniparental disomy (UPD) status as determined by other molecular methods in all 47 cases of PWS and AS. "
01/01/2010 - "We conclude that only a limited set of imprinted genes, including IGF2 and SNRPN, may be useful for LOI cancer biomarker studies. "
08/01/2015 - "Tumor-specific methylation changes at IGF2 DMR2 were observed in 59% of cancer patients, IGF2 DMR0 in 38%, DIRAS3 DMR in 36%, GRB10 ICR in 23%, PEG3 DMR in 21%, MEST ICR in 19%, H19 ICR in 18%, KvDMR in 8% and SNRPN/SNURF ICR in 4%. "
10/01/2011 - "One novel tumor suppressor (tripartite motif-containing 35 [TRIM35]) and two putative oncogenes (hairy/enhancer-of-split related with YRPW motif 1 [HEY1] and small nuclear ribonucleoprotein polypeptide E [SNRPE]) were discovered by various in vitro and in vivo tumorigenicity experiments. "
04/01/2009 - "We analyzed the methylation status of the H19 and SNRPN differential methylated regions (DMRs) and the promoter region of 17 TSGs, and the expression status of H19, IGF2 and SNRPN in 45 GCTs, and found that 25 and 20 were in the normal and abnormal reprogramming pathways, respectively, defined on the basis of the methylation status of the two DMRs and the anatomical tumor site. "
12/01/2001 - "Since there is no published evidence of the involvement of SNRPN methylation changes in the development of malignancy, the data suggest that the methylation pattern of SNRPN in GCTs reflects that of the primordial germ cell giving rise to the tumor."
|5.||Germ Cell and Embryonal Neoplasms (Germ Cell Tumor)
11/01/2005 - "Previous studies have demonstrated biallelic expression of the imprinted genes H19 and IGF2 and loss of DNA methylation of the SNRPN gene, indicating a common precursor cell of human germ cell tumors (GCTs), namely, the primordial germ cell (PGC). "
12/01/2001 - "SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development."
10/01/2001 - "Gonadal and nongonadal germ cell tumors are derived from primordial germ cells that have consistently lost the imprinting of SNRPN and partly lost imprinting of H19 and IGF-2. "
|1.||Small Nuclear Ribonucleoproteins (snRNP)
|3.||Small Nucleolar RNA (snoRNA)
|4.||DNA (Deoxyribonucleic Acid)
|5.||RNA (Ribonucleic Acid)
|6.||Insulin-Like Growth Factor II (Somatomedin A)
|9.||hydrogen sulfite (bisulfite)
|10.||A-Form DNA (A-DNA)