نتائج البحث - Alejandro Martin-Trujillo

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  1. 1
    Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes†

    Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes† حسب Kazuhiko Nakabayashi, Alejandro Martin Trujillo, Chiharu Tayama, Cristina Camprubí, Wataru Yoshida, Pablo Lapunzina, Aurora Sánchez, Hidenobu Soejima, Hiroyuki Aburatani, Genta Nagae, Tsutomu Ogata, Kenichiro Hata, David Monk

    منشور في 2011
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  2. 2
    Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

    Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting حسب Marta Sánchez-Delgado, Alejandro Martin-Trujillo, Chiharu Tayama, Enrique Vidal, Manel Esteller, Isabel Iglesias‐Platas, Nandita Deo, Olivia Barney, Ken Maclean, Kenichiro Hata, Kazuhiko Nakabayashi, Rosemary A. Fisher, David Monk

    منشور في 2015
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  3. 3
    Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects

    Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects حسب Anne Rochtus, Alejandro Martin-Trujillo, Benedetta Izzi, Francesca Marta Elli, Intza Garin, Agnès Linglart, Giovanna Mantovani, Guiomar Pérez de Nanclares, Suzanne Thiele, Brigitte Decallonne, Chris Van Geet, David Monk, Kathleen Freson

    منشور في 2016
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  4. 4
    A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

    A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions حسب Paras Garg, Bharati Jadhav, Oscar L. Rodriguez, Nihir Patel, Alejandro Martin-Trujillo, Miten Jain, Sofie Metsu, Hugh E. Olsen, Benedict Paten, Beate Ritz, R. Frank Kooy, Jozef Gécz, Andrew J. Sharp

    منشور في 2020
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  5. 5
    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism حسب Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina

    منشور في 2010
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  6. 6
    Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

    Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles حسب Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U. Morton, David McKean, Steven R. DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W. Newburger, George A. Porter, Anna Giardini, Daniel Bernstein, Martin Tristani‐Firouzi, Jonathan G. Seidman, Christine E. Seidman, Wendy K. Chung, Bruce D. Gelb, Andrew J. Sharp

    منشور في 2020
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  7. 7
    Identification of rare de novo epigenetic variations in congenital disorders

    Identification of rare de novo epigenetic variations in congenital disorders حسب Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William T. Gibson, Kelsey Chetnik, Chloé Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fátima Lopes, Lisenka E.L.M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patrı́cia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp

    منشور في 2018
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  8. 8
    Increased frequency of repeat expansion mutations across different populations

    Increased frequency of repeat expansion mutations across different populations حسب Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, Chiara Marini‐Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D. Long, Pietro Fratta, Douglas R. Langbehn, Sarah J. Tabrizi, Mark J. Caulfield, Andrea Cortese, Valentina Escott‐Price, John Hardy, Henry Houlden, Andrew J. Sharp, Arianna Tucci

    منشور في 2024
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