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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1998 1
2000 1
2001 2
2002 1
2003 1
2005 1
2008 2
2011 1
2015 1
2016 1
2017 1
2020 1
2023 0

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15 results

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Page 1
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS. Prasasya R, et al. Hum Mol Genet. 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. Hum Mol Genet. 2020. PMID: 32592473 Free PMC article. Review.
Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single imprinted cluster on human chromosome 14q32. TS most frequently arises from maternal UPD14 or epimutations/deletions on the …
Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused by absence or overexpression of genes within a single i …
Paternal uniparental disomy for chromosome 14: a case report and review.
Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K. Cotter PD, et al. Am J Med Genet. 1997 May 2;70(1):74-9. doi: 10.1002/(sici)1096-8628(19970502)70:1<74::aid-ajmg14>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9129745 Review.
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. ...We describe a new case of paternal UPD for chromosome 14 in an infant with a 45,XX,der(13q;14q) karyotype, which was confirmed by molecular a …
Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. ...We describe a new case …
Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.
Ogata T, Kagami M, Ferguson-Smith AC. Ogata T, et al. Epigenetics. 2008 Jul-Aug;3(4):181-7. doi: 10.4161/epi.3.4.6550. Epub 2008 Jul 2. Epigenetics. 2008. PMID: 18698157 Review.
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1, and maternally expressed genes (MEGs) such as GTL2 (alias, MEG3), RTL1as (RTL1 antisense) and MEG8. Consistent with this, pater …
Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 …
Uniparental disomies 7 and 14.
Hoffmann K, Heller R. Hoffmann K, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396576 Review.
Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. Uniparental disomy (UPD) describes the inheritance of both homologues of a chromosome pair from the same parent. .. …
Normally, one inherits one chromosome of each pair from one parent and the second chromosome from the other parent. …
Paternal uniparental disomy 14: introducing the "coat-hanger" sign.
Offiah AC, Cornette L, Hall CM. Offiah AC, et al. Pediatr Radiol. 2003 Jul;33(7):509-12. doi: 10.1007/s00247-003-0931-8. Epub 2003 Apr 24. Pediatr Radiol. 2003. PMID: 12712270 Review.
Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth report. ...
Paternal uniparental disomy for chromosome 14 (patUPD14) is a rare condition, this being the eighth repor …
A review of known imprinting syndromes and their association with assisted reproduction technologies.
Amor DJ, Halliday J. Amor DJ, et al. Hum Reprod. 2008 Dec;23(12):2826-34. doi: 10.1093/humrep/den310. Epub 2008 Aug 14. Hum Reprod. 2008. PMID: 18703582 Review.
There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader-Willi syndrome, Russell-Silver syndrome, maternal and paternal uniparental disomy of chromosome 14, pseudohypoparathyroidism type 1b and transi …
There is currently a lack of evidence linking ART with the remaining six imprinting syndromes: Prader-Willi syndrome, Russell-Silver syndrom …
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
Ogata T, Kagami M. Ogata T, et al. J Hum Genet. 2016 Feb;61(2):87-94. doi: 10.1038/jhg.2015.113. Epub 2015 Sep 17. J Hum Genet. 2016. PMID: 26377239 Free PMC article. Review.
Human chromosome 14q32.2 carries paternally expressed genes including DLK1 and RTL1, and maternally expressed genes including MEG3 and RTL1as, along with the germline-derived DLK1-MEG3 intergenic differentially methylated region (IG-DMR) and the postfertiliza …
Human chromosome 14q32.2 carries paternally expressed genes including DLK1 and RTL1, and maternally expressed genes inc …
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.
Sutton VR, Shaffer LG. Sutton VR, et al. Am J Med Genet. 2000 Aug 28;93(5):381-7. doi: 10.1002/1096-8628(20000828)93:5<381::aid-ajmg7>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10951461 Review.
Distinct phenotypes have been associated with both maternal and paternal uniparental disomy (UPD) for chromosome 14. This observation indicates that there are imprinted genes present on chromosome 14, although none have been identi …
Distinct phenotypes have been associated with both maternal and paternal uniparental disomy (UPD) for chromosome …
Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.
Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG. Papenhausen PR, et al. Am J Med Genet. 1995 Nov 20;59(3):271-5. doi: 10.1002/ajmg.1320590302. Am J Med Genet. 1995. PMID: 8599348 Review.
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. ...Absence of maternal VNTR polymorphisms and homozygosity of paternal polymorphisms using chromosome 14 specific probes …
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. .. …
15 results