檢索結果 - Alejandro Estrada‐Cuzcano

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  1. 1
    Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

    Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por son... 由 Francia Huaman‐Dianderas, María L. Guevara, Diana Rojas Málaga, Alejandro Estrada‐Cuzcano, Ricardo Fujita

    出版 2019
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  2. 2
    Non-syndromic retinal ciliopathies: translating gene discovery into therapy

    Non-syndromic retinal ciliopathies: translating gene discovery into therapy 由 Alejandro Estrada‐Cuzcano, Ronald Roepman, Frans P.M. Cremers, Anneke I. den Hollander, Dorus A. Mans

    出版 2012
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    Revisão
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  3. 3
    Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

    Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy 由 Derek Atkinson, J. Nikodinović Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, R. Steiner, Alejandro Estrada‐Cuzcano, Koen Peeters, Tinne Ooms, Els De Vriendt, Xiang‐Lei Yang, Thorsten Hornemann, Vedrana Milić Rašić, Albena Jordanova

    出版 2017
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    Artigo
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  4. 4
    MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

    MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB 由 María L. Guevara, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas, Ana Prötzel, Carlos A. Castañeda, Hugo Hernán Abarca-Barriga, Luís Gustavo Celis, Jorge La Serna‐Infantes, Ricardo Fujita

    出版 2021
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    Artigo
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  5. 5
    DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB

    DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB 由 María L. Guevara, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas, Ana Prötzel, Carlos A. Castañeda, Hugo Hernán Abarca-Barriga, Luís Gustavo Celis, Jorge La Serna- Infantes, Ricardo Fujita

    出版 2021
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    Conjunto de Dados
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  6. 6
    DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB

    DATASET - MLPA FOLLOWED BY TARGET-NGS TO DETECT MUTATIONS IN THE DYSTROPHIN GENE OF PERUVIAN PATIENTS SUSPECTED OF DMD/DMB 由 María L. Guevara, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas, Ana Prötzel, Carlos A. Castañeda, Hugo Hernán Abarca-Barriga, Luís Gustavo Celis, Jorge La Serna- Infantes, Ricardo Fujita

    出版 2021
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  7. 7
    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

    Loss-of-function mutations in the<i>ATP13A2/</i>PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) 由 Alejandro Estrada‐Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, J. Pon Samuel, Lüdger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Züchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle

    出版 2016
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  8. 8
    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

    Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement 由 Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik‐Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael Kwint, Sabine Gijsen, Ramon A. C. van Huet, Rob W.J. Collin, Hans Scheffer, Joris A. Veltman, Eberhart Zrenner, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers

    出版 2011
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  9. 9
    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

    MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability 由 Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M. Ryan, Zornitza Stark, Maie Walsh, Sarah L. Sawyer, Katrina M. Bell, Alicia Oshlack, Paul J. Lockhart, Mariia Shcherbii, Alejandro Estrada‐Cuzcano, Derek Atkinson, Taila Hartley, Martine Tétreault, Inge Cuppen, W. Ludo van der Pol, Ayşe Candayan, Esra Battaloğlu, Yeşim Parman, Koen L.I. van Gassen, Marie-José H. van den Boogaard, Kym M. Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa

    出版 2017
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  10. 10
    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

    A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies 由 Hemant Khanna, Erica E. Davis, Carlos Murga‐Zamalloa, Alejandro Estrada‐Cuzcano, Irma López, Anneke I. den Hollander, Marijke N. Zonneveld, Mohammad Othman, Naushin Waseem, Christina Chakarova, C. Maubaret, Anna Dı́az-Font, Ian M. MacDonald, Donna M. Muzny, David A. Wheeler, Margaret Morgan, Lora Lewis, Clare V. Logan, Perciliz L. Tan, M Beer, Chris F. Inglehearn, Richard A. Lewis, Samuel G. Jacobson, Carsten Bergmann, Philip L. Beales, Tania Attié‐Bitach, Colin A. Johnson, Edgar A. Otto, Shomi S. Bhattacharya, Friedhelm Hildebrandt, Richard A. Gibbs, Robert K. Koenekoop, Anand Swaroop, Nicholas Katsanis

    出版 2009
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  11. 11
    Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

    Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy 由 Edgar A. Otto, Toby W. Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B. Patil, Shawn Levy, Amiya K. Ghosh, Carlos Murga‐Zamalloa, Jeroen van Reeuwijk, Stef J.F. Letteboer, Liyun Sang, Rachel H. Giles, Qin Liu, Karlien L. M. Coene, Alejandro Estrada‐Cuzcano, Rob W.J. Collin, Heather M. McLaughlin, Susanne Held, J. M. Kasanuki, Gokul Ramaswami, Jinny Conte, Irma López, Joseph Washburn, James W. MacDonald, Jinghua Hu, Yukiko Yamashita, Eamonn R. Maher, Lisa M. Guay‐Woodford, Hartmut P.H. Neumann, Nicholas Obermüller, Robert K. Koenekoop, Carsten Bergmann, Xiaoshu Bei, Richard A. Lewis, Nicholas Katsanis, Vanda S. Lopes, David S. Williams, Robert H. Lyons, Chi V. Dang, Daniela A. Brito, Mónica Bettencourt‐Dias, Xinmin Zhang, James D. Cavalcoli, Gudrun Nürnberg, Peter Nürnberg, Eric A. Pierce, Peter K. Jackson, Corinne Antignac, Sophie Saunier, Ronald Roepman, Hélène Dollfus, Hemant Khanna, Friedhelm Hildebrandt

    出版 2010
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