Arama Sonuçları - Pablo Lapunzina

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  1. 1
    The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

    The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer Yazar: Pablo Lapunzina, David Monk

    Baskı/Yayın Bilgisi 2011
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  2. 2
    Simpson-Golabi-Behmel syndrome types I and II

    Simpson-Golabi-Behmel syndrome types I and II Yazar: Jair Tenorio, Pedro Arias, Víctor Martínez‐Glez, Fernando Santos, Sixto García‐Miñaúr, Julián Nevado, Pablo Lapunzina

    Baskı/Yayın Bilgisi 2014
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  3. 3
    Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

    Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans Yazar: Marta Sánchez-Delgado, Andrea Riccio, Thomas Eggermann, Eamonn R. Maher, Pablo Lapunzina, Deborah Mackay, David Monk

    Baskı/Yayın Bilgisi 2016
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  4. 4
    <i>HLA‐A*11:01</i> and <i>HLA‐C*04:01</i> are associated with severe <scp>COVID</scp>‐19

    <i>HLA‐A*11:01</i> and <i>HLA‐C*04:01</i> are associated with severe <scp>COVID</scp>‐19 Yazar: Patricia Castro‐Santos, Óscar Martínez-Nieto, José A. Riancho, Pablo Lapunzina, Carlos Flores, Ángel Carracedo, Roberto Díaz‐Peña

    Baskı/Yayın Bilgisi 2023
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  5. 5
    Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory

    Epigenetic biomarkers: Current strategies and future challenges for their use in the clinical laboratory Yazar: José Luis García‐Giménez, Marta Seco-Cervera, Trygve O. Tollefsbol, Carlos Romá‐Mateo, Lorena Peiró-Chova, Pablo Lapunzina, Federico V. Pallardó

    Baskı/Yayın Bilgisi 2017
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  6. 6
    Biomarkers in Vestibular Schwannoma–Associated Hearing Loss

    Biomarkers in Vestibular Schwannoma–Associated Hearing Loss Yazar: Luis Lassaletta, Miryam Calvino, José Manuel Morales‐Puebla, Pablo Lapunzina, Lourdes Rodríguez‐de la Rosa, Isabel Varela‐Nieto, Víctor Martínez‐Glez

    Baskı/Yayın Bilgisi 2019
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  7. 7
    Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

    Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma Yazar: María Berdasco, Santiago Ropero, Fernando Setién, Mario F. Fraga, Pablo Lapunzina, Régine Losson, Miguel Alaminos, Nai‐Kong V. Cheung, Nazneen Rahman, Manel Esteller

    Baskı/Yayın Bilgisi 2009
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  8. 8
    Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

    Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults Yazar: Leyre Riancho‐Zarrabeitia, María Teresa García‐Unzueta, Jair Tenorio, J.A. Gómez-Gerique, Víctor L. Ruiz‐Pérez, Karen E. Heath, Pablo Lapunzina, José A. Riancho

    Baskı/Yayın Bilgisi 2016
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  9. 9
    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain Yazar: Hannah Verdin, Barbara D′haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julián Nevado, Claudia M.B. Carvalho, James R. Lupski, Elfride De Baere

    Baskı/Yayın Bilgisi 2013
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  10. 10
    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

    Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis Yazar: Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, Walter L. Miller

    Baskı/Yayın Bilgisi 2005
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  11. 11
    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† Yazar: 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

    Baskı/Yayın Bilgisi 2011
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  12. 12
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome Yazar: Thomas Eggermann, Elizabeth M. Algar, Pablo Lapunzina, Deborah Mackay, Eamonn R. Maher, Marcel M.A.M. Mannens, Irène Netchine, Dirk Prawitt, Andrea Riccio, I. Karen Temple, Rosanna Weksberg

    Baskı/Yayın Bilgisi 2013
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  13. 13
    The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

    The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia Yazar: José A. Caparrós‐Martín, Eulalia Valencia, Edel Reytor, María Pacheco, Margarita Fernández, Antonio Pérez Aytés, Esther Geán, Pablo Lapunzina, Heiko Peters, Judith A. Goodship, Víctor L. Ruiz‐Pérez

    Baskı/Yayın Bilgisi 2012
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  14. 14
    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome Yazar: Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij‐Arts, Raoul C. M. Hennekam

    Baskı/Yayın Bilgisi 2023
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  15. 15
    Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

    Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Yazar: Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, José A. Caparrós‐Martín, Eulalia Valencia, Rocío Letón, Víctor Martínez‐Glez, Rasha M. Elhossini, Khalda Amr, Nuria Vilaboa, Víctor L. Ruiz‐Pérez

    Baskı/Yayın Bilgisi 2010
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  16. 16
    Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years

    Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years Yazar: Alberto M. Borobia, Irene Dapía, Hoi Y. Tong, Pedro Arias, Mario Muñoz, Jair Tenorio, Rafael Hernández, Irene García-García, Gema Gordo, Elena Ramı́rez, Jesús Frías, Pablo Lapunzina, Antonio J. Carcas

    Baskı/Yayın Bilgisi 2017
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  17. 17
    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas Yazar: Patricia Sarrión, Anna Sangorrin, Roser Urreizti, María Andrea Delgado, Rafael Artuch, Loreto Martorell, Judith Armstrong, Jordi Antón, Ferrán Torner, Marina Vilaseca, Julián Nevado, Pablo Lapunzina, Carla Asteggiano, Susana Balcells, Daniel Grinberg

    Baskı/Yayın Bilgisi 2013
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  18. 18
    Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

    Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome Yazar: Víctor L. Ruiz‐Pérez, Stuart W. Tompson, J. Helen Blair, Cecilia Espinoza‐Valdez, Pablo Lapunzina, Elias O. Silva, Ben C.J. Hamel, John L. Gibbs, I D Young, Michael Wright, Judith A. Goodship

    Baskı/Yayın Bilgisi 2003
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  19. 19
    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

    Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Yazar: Víctor Martínez‐Glez, Eulalia Valencia, José A. Caparrós‐Martín, Mona Aglan, Samia A. Temtamy, Jair Tenorio, Verónica Pulido, Uschi Lindert, Marianne Rohrbach, David R. Eyre, Cecilia Giunta, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Baskı/Yayın Bilgisi 2011
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  20. 20
    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Yazar: Luís Fernández, Julián Nevado, Fernando Santos, Damián Heine‐Suñer, Víctor Martínez‐Glez, Sixto García‐Miñaúr, R. Garrido Palomo, Alicia Delicado, I. López Pajares, María Palomares‐Bralo, Luis García‐Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

    Baskı/Yayın Bilgisi 2009
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