These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

361 related articles for article (PubMed ID: 30221575)

  • 1. Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.
    Fontana L; Bedeschi MF; Maitz S; Cereda A; Faré C; Motta S; Seresini A; D'Ursi P; Orro A; Pecile V; Calvello M; Selicorni A; Lalatta F; Milani D; Sirchia SM; Miozzo M; Tabano S
    Epigenetics; 2018; 13(9):897-909. PubMed ID: 30221575
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.
    Urakawa T; Soejima H; Yamoto K; Hara-Isono K; Nakamura A; Kawashima S; Narusawa H; Kosaki R; Nishimura Y; Yamazawa K; Hattori T; Muramatsu Y; Inoue T; Matsubara K; Fukami M; Saitoh S; Ogata T; Kagami M
    Clin Epigenetics; 2024 Oct; 16(1):138. PubMed ID: 39369220
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
    Eggermann T; Brück J; Knopp C; Fekete G; Kratz C; Tasic V; Kurth I; Elbracht M; Eggermann K; Begemann M
    J Mol Med (Berl); 2020 Oct; 98(10):1447-1455. PubMed ID: 32839827
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
    Eggermann T; Yapici E; Bliek J; Pereda A; Begemann M; Russo S; Tannorella P; Calzari L; de Nanclares GP; Lombardi P; Temple IK; Mackay D; Riccio A; Kagami M; Ogata T; Lapunzina P; Monk D; Maher ER; Tümer Z
    Clin Epigenetics; 2022 Mar; 14(1):41. PubMed ID: 35296332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Uncovering the phenotypic consequences of multi-locus imprinting disturbances using genome-wide methylation analysis in genomic imprinting disorders.
    Kim HY; Shin CH; Shin CH; Ko JM
    PLoS One; 2023; 18(8):e0290450. PubMed ID: 37594968
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
    Grosvenor SE; Davies JH; Lever M; Sillibourne J; Mackay DJG; Temple IK
    Am J Med Genet A; 2022 Jun; 188(6):1896-1903. PubMed ID: 35266280
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Additional molecular findings in 11p15-associated imprinting disorders: an urgent need for multi-locus testing.
    Eggermann T; Heilsberg AK; Bens S; Siebert R; Beygo J; Buiting K; Begemann M; Soellner L
    J Mol Med (Berl); 2014 Jul; 92(7):769-77. PubMed ID: 24658748
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
    Sparago A; Verma A; Patricelli MG; Pignata L; Russo S; Calzari L; De Francesco N; Del Prete R; Palumbo O; Carella M; Mackay DJG; Rezwan FI; Angelini C; Cerrato F; Cubellis MV; Riccio A
    Clin Epigenetics; 2019 Dec; 11(1):190. PubMed ID: 31829238
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
    Pignata L; Cecere F; Verma A; Hay Mele B; Monticelli M; Acurzio B; Giaccari C; Sparago A; Hernandez Mora JR; Monteagudo-Sánchez A; Esteller M; Pereda A; Tenorio-Castano J; Palumbo O; Carella M; Prontera P; Piscopo C; Accadia M; Lapunzina P; Cubellis MV; de Nanclares GP; Monk D; Riccio A; Cerrato F
    Clin Epigenetics; 2022 May; 14(1):71. PubMed ID: 35643636
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S; Calzari L; Mussa A; Mainini E; Cassina M; Di Candia S; Clementi M; Guzzetti S; Tabano S; Miozzo M; Sirchia S; Finelli P; Prontera P; Maitz S; Sorge G; Calcagno A; Maghnie M; Divizia MT; Melis D; Manfredini E; Ferrero GB; Pecile V; Larizza L
    Clin Epigenetics; 2016; 8():23. PubMed ID: 26933465
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
    Azzi S; Rossignol S; Steunou V; Sas T; Thibaud N; Danton F; Le Jule M; Heinrichs C; Cabrol S; Gicquel C; Le Bouc Y; Netchine I
    Hum Mol Genet; 2009 Dec; 18(24):4724-33. PubMed ID: 19755383
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
    Demars J; Gicquel C
    Clin Genet; 2012 Apr; 81(4):350-61. PubMed ID: 22150955
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
    Fontana L; Tabano S; Maitz S; Colapietro P; Garzia E; Gerli AG; Sirchia SM; Miozzo M
    Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33810554
    [TBL] [Abstract][Full Text] [Related]  

  • 14. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
    Demars J; Rossignol S; Netchine I; Lee KS; Shmela M; Faivre L; Weill J; Odent S; Azzi S; Callier P; Lucas J; Dubourg C; Andrieux J; Le Bouc Y; El-Osta A; Gicquel C
    Hum Mutat; 2011 Oct; 32(10):1171-82. PubMed ID: 21780245
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
    Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
    Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family.
    Cardarelli L; Sparago A; De Crescenzo A; Nalesso E; Zavan B; Cubellis MV; Selicorni A; Cavicchioli P; Pozzan GB; Petrella M; Riccio A
    Pediatr Dev Pathol; 2010; 13(4):326-30. PubMed ID: 20028213
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
    Chiesa N; De Crescenzo A; Mishra K; Perone L; Carella M; Palumbo O; Mussa A; Sparago A; Cerrato F; Russo S; Lapi E; Cubellis MV; Kanduri C; Cirillo Silengo M; Riccio A; Ferrero GB
    Hum Mol Genet; 2012 Jan; 21(1):10-25. PubMed ID: 21920939
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
    Heide S; Chantot-Bastaraud S; Keren B; Harbison MD; Azzi S; Rossignol S; Michot C; Lackmy-Port Lys M; Demeer B; Heinrichs C; Newfield RS; Sarda P; Van Maldergem L; Trifard V; Giabicani E; Siffroi JP; Le Bouc Y; Netchine I; Brioude F
    J Med Genet; 2018 Mar; 55(3):205-213. PubMed ID: 29223973
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Usefulness of the MS-MLPA technique in the diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Acosta-Fernández E; Corona-Rivera JR; Ríos-Flores IM; Torres-Anguiano E; Corona-Rivera A; Peña-Padilla C; Bobadilla-Morales L
    Gac Med Mex; 2022; 158(4):202-209. PubMed ID: 36256576
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of temple syndrome families with 14q32 epimutations.
    Brück J; Begemann M; Dey D; Elbracht M; Eggermann T
    Eur J Med Genet; 2020 Dec; 63(12):104077. PubMed ID: 33010492
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.