BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 32592473)

  • 1. Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
    Prasasya R; Grotheer KV; Siracusa LD; Bartolomei MS
    Hum Mol Genet; 2020 Sep; 29(R1):R107-R116. PubMed ID: 32592473
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
    Severi G; Bernardini L; Briuglia S; Bigoni S; Buldrini B; Magini P; Dentici ML; Cordelli DM; Arrigo T; Franzoni E; Fini S; Italyankina E; Loddo I; Novelli A; Graziano C
    Am J Med Genet A; 2016 Jan; 170A(1):162-9. PubMed ID: 26333654
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. [Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome].
    Westeppe S; Dionysopoulou A; Kidszun A; Schmeh I; Bartsch O; Mildenberger E; Winter J
    Z Geburtshilfe Neonatol; 2020 Jun; 224(3):153-159. PubMed ID: 31853915
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
    Omark J; Masunaga Y; Hannibal M; Shaw B; Fukami M; Kato F; Saitsu H; Kagami M; Ogata T
    J Hum Genet; 2021 Apr; 66(4):439-443. PubMed ID: 33067531
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Temple syndrome: A patient with maternal hetero-UPD14, mixed iso- and hetero-disomy detected by SNP microarray typing of patient-father duos.
    Shin EH; Cho E; Lee CG
    Brain Dev; 2016 Aug; 38(7):669-73. PubMed ID: 26867509
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.
    Lande A; Kroken M; Rabben K; Retterstøl L
    Am J Med Genet A; 2018 Jan; 176(1):175-180. PubMed ID: 29159982
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer.
    Enterina JR; Enfield KSS; Anderson C; Marshall EA; Ng KW; Lam WL
    Expert Rev Respir Med; 2017 Sep; 11(9):749-761. PubMed ID: 28715922
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
    Kagami M; Hara-Isono K; Matsubara K; Nakabayashi K; Narumi S; Fukami M; Ohkubo Y; Saitsu H; Takada S; Ogata T
    Clin Epigenetics; 2021 May; 13(1):119. PubMed ID: 34039421
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.
    Kagami M; Matsuoka K; Nagai T; Yamanaka M; Kurosawa K; Suzumori N; Sekita Y; Miyado M; Matsubara K; Fuke T; Kato F; Fukami M; Ogata T
    Epigenetics; 2012 Oct; 7(10):1142-50. PubMed ID: 22917972
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.