Works matching Imprinting


Results: 5000
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    The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.

    Published in:
    Clinical Epigenetics, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13148-019-0760-8
    By:
    • Sparago, Angela;
    • Verma, Ankit;
    • Patricelli, Maria Grazia;
    • Pignata, Laura;
    • Russo, Silvia;
    • Calzari, Luciano;
    • De Francesco, Naomi;
    • Del Prete, Rosita;
    • Palumbo, Orazio;
    • Carella, Massimo;
    • Mackay, Deborah J. G.;
    • Rezwan, Faisal I.;
    • Angelini, Claudia;
    • Cerrato, Flavia;
    • Cubellis, Maria Vittoria;
    • Riccio, Andrea
    Publication type:
    Article
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    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.

    Published in:
    Clinical Epigenetics, 2022, v. 14, p. 1, doi. 10.1186/s13148-022-01292-w
    By:
    • Pignata, Laura;
    • Cecere, Francesco;
    • Verma, Ankit;
    • Hay Mele, Bruno;
    • Monticelli, Maria;
    • Acurzio, Basilia;
    • Giaccari, Carlo;
    • Sparago, Angela;
    • Hernandez Mora, Jose Ramon;
    • Monteagudo-Sánchez, Ana;
    • Esteller, Manel;
    • Pereda, Arrate;
    • Tenorio-Castano, Jair;
    • Palumbo, Orazio;
    • Carella, Massimo;
    • Prontera, Paolo;
    • Piscopo, Carmelo;
    • Accadia, Maria;
    • Lapunzina, Pablo;
    • Cubellis, Maria Vittoria
    Publication type:
    Article
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    Stability of genomic imprinting in human induced pluripotent stem cells.

    Published in:
    BMC Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2156-14-32
    By:
    • Hiura, Hitoshi;
    • Toyoda, Masashi;
    • Okae, Hiroaki;
    • Sakurai, Masahiro;
    • Miyauchi, Naoko;
    • Sato, Akiko;
    • Kiyokawa, Nobutaka;
    • Okita, Hajime;
    • Miyagawa, Yoshitaka;
    • Akutsu, Hidenori;
    • Nishino, Koichiro;
    • Umezawa, Akihiro;
    • Arima, Takahiro
    Publication type:
    Article
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    Multilocus methylation defects in imprinting disorders.

    Published in:
    Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037
    By:
    • Mackay, Deborah J. G.;
    • Eggermann, Thomas;
    • Buiting, Karin;
    • Garin, Intza;
    • Netchine, Irène;
    • Linglart, Agnès;
    • Perez de Nanclares, Guiomar
    Publication type:
    Article
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