166 related articles for article (PubMed ID: 11595025)
1. Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region.
Kotzot D
Clin Genet; 2001 Sep; 60(3):226-31. PubMed ID: 11595025
[TBL] [Abstract][Full Text] [Related]
2. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
Corsello G; Salzano E; Vecchio D; Antona V; Grasso M; Malacarne M; Carella M; Palumbo P; Piro E; Giuffrè M
Am J Med Genet A; 2015 Dec; 167A(12):3130-8. PubMed ID: 26333487
[TBL] [Abstract][Full Text] [Related]
3. Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Rosenfeld JA; Fox JE; Descartes M; Brewer F; Stroud T; Gorski JL; Upton SJ; Moeschler JB; Monteleone B; Neill NJ; Lamb AN; Ballif BC; Shaffer LG; Ravnan JB
Am J Med Genet A; 2015 Feb; 167A(2):345-53. PubMed ID: 25756153
[TBL] [Abstract][Full Text] [Related]
4. Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.
Zechner U; Kohlschmidt N; Rittner G; Damatova N; Beyer V; Haaf T; Bartsch O
Clin Genet; 2009 Mar; 75(3):251-8. PubMed ID: 19250383
[TBL] [Abstract][Full Text] [Related]
5. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
Kagami M; Sekita Y; Nishimura G; Irie M; Kato F; Okada M; Yamamori S; Kishimoto H; Nakayama M; Tanaka Y; Matsuoka K; Takahashi T; Noguchi M; Tanaka Y; Masumoto K; Utsunomiya T; Kouzan H; Komatsu Y; Ohashi H; Kurosawa K; Kosaki K; Ferguson-Smith AC; Ishino F; Ogata T
Nat Genet; 2008 Feb; 40(2):237-42. PubMed ID: 18176563
[TBL] [Abstract][Full Text] [Related]
6. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.
Ogata T; Kagami M; Ferguson-Smith AC
Epigenetics; 2008; 3(4):181-7. PubMed ID: 18698157
[TBL] [Abstract][Full Text] [Related]
7. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
Irving MD; Buiting K; Kanber D; Donaghue C; Schulz R; Offiah A; Mohammed SN; Oakey RJ
Am J Med Genet A; 2010 Aug; 152A(8):1942-50. PubMed ID: 20602488
[TBL] [Abstract][Full Text] [Related]
8. Global analysis of uniparental disomy using high density genotyping arrays.
Bruce S; Leinonen R; Lindgren CM; Kivinen K; Dahlman-Wright K; Lipsanen-Nyman M; Hannula-Jouppi K; Kere J
J Med Genet; 2005 Nov; 42(11):847-51. PubMed ID: 15879501
[TBL] [Abstract][Full Text] [Related]
9. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
Kagami M; Mizuno S; Matsubara K; Nakabayashi K; Sano S; Fuke T; Fukami M; Ogata T
Eur J Hum Genet; 2015 Aug; 23(8):1062-7. PubMed ID: 25351781
[TBL] [Abstract][Full Text] [Related]
10. Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.
Kotzot D
Ann Genet; 2004; 47(3):251-60. PubMed ID: 15337470
[TBL] [Abstract][Full Text] [Related]
11. Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
Liu W; Zhang R; Wei J; Zhang H; Yu G; Li Z; Chen M; Sun X
Cytogenet Genome Res; 2015; 146(1):9-18. PubMed ID: 26184742
[TBL] [Abstract][Full Text] [Related]
12. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Polonis K; Lopes JL; Cabral H; Babcock HE; Kline L; Ruiz KM; Schwartz S; Hasadsri L; Rowsey RA; Hoppman NL
Am J Med Genet A; 2023 Jul; 191(7):1978-1983. PubMed ID: 37134191
[TBL] [Abstract][Full Text] [Related]
13. Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.
Sasaki A; Sumie M; Wada S; Kosaki R; Kurosawa K; Fukami M; Sago H; Ogata T; Kagami M
Am J Med Genet A; 2014 Jan; 164A(1):264-6. PubMed ID: 24259232
[No Abstract] [Full Text] [Related]
14. A case of segmental paternal isodisomy of chromosome 14.
Coveler KJ; Yang SP; Sutton R; Milstein JM; Wu YQ; Bois KD; Beischel LS; Johnson JP; Shaffer LG
Hum Genet; 2002 Mar; 110(3):251-6. PubMed ID: 11935337
[TBL] [Abstract][Full Text] [Related]
15. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
Sachwitz J; Strobl-Wildemann G; Fekete G; Ambrozaitytė L; Kučinskas V; Soellner L; Begemann M; Eggermann T
BMC Med Genet; 2016 Mar; 17():20. PubMed ID: 26969265
[TBL] [Abstract][Full Text] [Related]
16. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
Hosoki K; Ogata T; Kagami M; Tanaka T; Saitoh S
Eur J Hum Genet; 2008 Aug; 16(8):1019-23. PubMed ID: 18478039
[TBL] [Abstract][Full Text] [Related]
17. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
Kotzot D
Eur J Hum Genet; 2004 May; 12(5):343-6. PubMed ID: 14747835
[TBL] [Abstract][Full Text] [Related]
18. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
Buiting K; Kanber D; Martín-Subero JI; Lieb W; Terhal P; Albrecht B; Purmann S; Gross S; Lich C; Siebert R; Horsthemke B; Gillessen-Kaesbach G
Hum Mutat; 2008 Sep; 29(9):1141-6. PubMed ID: 18454453
[TBL] [Abstract][Full Text] [Related]
19. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
Begemann M; Spengler S; Kordass U; Schröder C; Eggermann T
Am J Med Genet A; 2012 Feb; 158A(2):423-8. PubMed ID: 22246686
[TBL] [Abstract][Full Text] [Related]
20. Inducible uniparental chromosome disomy to probe genomic imprinting at single-cell level in brain and beyond.
Pauler FM; Hudson QJ; Laukoter S; Hippenmeyer S
Neurochem Int; 2021 May; 145():104986. PubMed ID: 33600873
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]