133 related articles for article (PubMed ID: 33579810)
1. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome.
Sabria-Back J; Monteagudo-Sánchez A; Sánchez-Delgado M; Ferguson-Smith AC; Gómez O; Pertierra Cartada A; Tenorio J; Nevado J; Lapunzina P; Pereda Aguirre A; Giménez Sevilla C; Toro Toro E; Perez de Nanclares G; Monk D
J Med Genet; 2022 Mar; 59(3):253-261. PubMed ID: 33579810
[TBL] [Abstract][Full Text] [Related]
2. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Kagami M; Matsubara K; Nakabayashi K; Nakamura A; Sano S; Okamura K; Hata K; Fukami M; Ogata T
Genet Med; 2017 Apr; 19(4):476-482. PubMed ID: 27632690
[TBL] [Abstract][Full Text] [Related]
3. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
Beygo J; Küchler A; Gillessen-Kaesbach G; Albrecht B; Eckle J; Eggermann T; Gellhaus A; Kanber D; Kordaß U; Lüdecke HJ; Purmann S; Rossier E; van de Nes J; van der Werf IM; Wenzel M; Wieczorek D; Horsthemke B; Buiting K
Eur J Hum Genet; 2017 Aug; 25(8):935-945. PubMed ID: 28635951
[TBL] [Abstract][Full Text] [Related]
4. Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
Sirera Sirera P; García-Payá E; Olivas García J; Jadraque Rodríguez R; Hernández Romero SD
Am J Med Genet A; 2023 Aug; 191(8):2225-2231. PubMed ID: 37222159
[TBL] [Abstract][Full Text] [Related]
5. Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Baena N; Monk D; Aguilera C; Fraga MF; Fernández AF; Gabau E; Corripio R; Capdevila N; Trujillo JP; Ruiz A; Guitart M
Clin Epigenetics; 2024 May; 16(1):62. PubMed ID: 38715103
[TBL] [Abstract][Full Text] [Related]
6. Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.
van der Werf IM; Buiting K; Czeschik C; Reyniers E; Vandeweyer G; Vanhaesebrouck P; Lüdecke HJ; Wieczorek D; Horsthemke B; Mortier G; Leroy JG; Kooy RF
Eur J Hum Genet; 2016 Dec; 24(12):1724-1729. PubMed ID: 27406249
[TBL] [Abstract][Full Text] [Related]
7. Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.
Chen D; Shen X; Wu C; Xu Y; Ding C; Zhang G; Xu Y; Zhou C
J Assist Reprod Genet; 2020 Mar; 37(3):549-557. PubMed ID: 32152910
[TBL] [Abstract][Full Text] [Related]
8. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
Ogata T; Kagami M
J Hum Genet; 2016 Feb; 61(2):87-94. PubMed ID: 26377239
[TBL] [Abstract][Full Text] [Related]
9. Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia.
He B; Wang L; Wu Q; Wang X; Ji X; Shi W; Shi J; Qiang R; Zhen S
Syst Biol Reprod Med; 2022 Feb; 68(1):80-88. PubMed ID: 34913786
[TBL] [Abstract][Full Text] [Related]
10. Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG gene.
Huang S; Niu Y; Li J; Gao M; Zhang Y; Yan J; Ma S; Gao X; Gao Y
J Assist Reprod Genet; 2020 Aug; 37(8):2025-2031. PubMed ID: 32500460
[TBL] [Abstract][Full Text] [Related]
11. Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A).
Palmerola KL; Vitez SF; Amrane S; Fischer CP; Forman EJ
J Assist Reprod Genet; 2019 Jan; 36(1):153-157. PubMed ID: 30362056
[TBL] [Abstract][Full Text] [Related]
12. Comprehensive preimplantation genetic testing by massively parallel sequencing.
Chen S; Yin X; Zhang S; Xia J; Liu P; Xie P; Yan H; Liang X; Zhang J; Chen Y; Fei H; Zhang L; Hu Y; Jiang H; Lin G; Chen F; Xu C
Hum Reprod; 2021 Jan; 36(1):236-247. PubMed ID: 33306794
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Case report: Prenatal diagnosis of Kagami-Ogata syndrome in a Chinese family.
Hu J; Zhang Y; Yang Y; Wang L; Sun Y; Dong M
Front Genet; 2022; 13():959666. PubMed ID: 36035167
[TBL] [Abstract][Full Text] [Related]
15. Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Masset H; Zamani Esteki M; Dimitriadou E; Dreesen J; Debrock S; Derhaag J; Derks K; Destouni A; Drüsedau M; Meekels J; Melotte C; Peeraer K; Tšuiko O; van Uum C; Allemeersch J; Devogelaere B; François KO; Happe S; Lorson D; Richards RL; Theuns J; Brunner H; de Die-Smulders C; Voet T; Paulussen A; Coonen E; Vermeesch JR
Hum Reprod; 2019 Aug; 34(8):1608-1619. PubMed ID: 31348829
[TBL] [Abstract][Full Text] [Related]
16. Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation.
Higashiyama H; Ohsone Y; Takatani R; Futatani T; Kosaki R; Kagami M
Eur J Med Genet; 2022 Oct; 65(10):104580. PubMed ID: 35953028
[TBL] [Abstract][Full Text] [Related]
17. Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping.
Yang J; Shi H; Niu W; Bao X; Liu H; Chen C; Jin H; Song W; Sun Y
J Assist Reprod Genet; 2023 Jul; 40(7):1735-1746. PubMed ID: 37154837
[TBL] [Abstract][Full Text] [Related]
18. Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam.
Mai AD; Harton GL; Quang VN; Van HN; Thi NH; Thuy NP; Le Thi TH; Minh DN; Quoc QT
J Assist Reprod Genet; 2021 Feb; 38(2):365-374. PubMed ID: 33216308
[TBL] [Abstract][Full Text] [Related]
19. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
Kagami M; Yanagisawa A; Ota M; Matsuoka K; Nakamura A; Matsubara K; Nakabayashi K; Takada S; Fukami M; Ogata T
Clin Epigenetics; 2019 Mar; 11(1):42. PubMed ID: 30846001
[TBL] [Abstract][Full Text] [Related]
20. Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy.
Popovic M; Dhaenens L; Taelman J; Dheedene A; Bialecka M; De Sutter P; Chuva de Sousa Lopes SM; Menten B; Heindryckx B
Hum Reprod; 2019 Apr; 34(4):758-769. PubMed ID: 30838420
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
