Resultats globals: 2 registres trobats en 0.02 segons.
Articles, 2 registres trobats
Articles 2 registres trobats  
1.
8 p, 1.4 MB Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma / Trilla-Fuertes, Lucía (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain) ; Ghanem, Ismael (Hospital Universitario La Paz (Madrid)) ; Maurel, Joan (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; G-Pastrián, Laura (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Mendiola, Marta (Centro de Investigación Biomédica en Red de Cáncer) ; Peña, Cristina (Hospital Universitario La Paz (Madrid)) ; López-Vacas, Rocío (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Prado-Vázquez, Guillermo (Biomedica Molecular Medicine SL, C/Faraday 7, 28049, Madrid, Spain) ; López-Camacho, Elena (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Zapater-Moros, Andrea (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Heredia Soto, Victoria (Hospital Universitario La Paz (Madrid)) ; Cuatrecasas, Miriam (Hospital Clínic i Provincial de Barcelona) ; García-Alfonso, Pilar (Hospital General Universitario Gregorio Marañón) ; Capdevila Castillón, Jaume (Vall d'Hebron Institut d'Oncologia) ; Conill, Carles (Hospital Clínic i Provincial de Barcelona) ; García-Carbonero, Rocío (Hospital Universitario 12 de Octubre (Madrid)) ; Heath, Karen E. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Ramos-Ruiz, Ricardo (Genomics Unit Cantoblanco, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain) ; Llorens, Carlos (Biotechvana SL, Parque Científico de Madrid, C/ Faraday 7, 28049, Madrid, Spain) ; Campos-Barros, Ángel (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Gámez-Pozo, Angelo (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Feliu, Jaime (Universidad Autónoma de Madrid) ; Vara, Juan Ángel Fresno (Instituto de Investigación Sanitaria del Hospital Universitario La Paz)
Anal squamous cell carcinoma (ASCC) is a rare neoplasm. Chemoradiotherapy is the standard of care, with no therapeutic advances achieved over the past three decades. Thus, a deeper molecular characterization of this disease is still necessary. [...]
2020 - 10.1016/j.tranon.2020.100778
Translational Oncology, Vol. 13 (may 2020)  
2.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Barakat, Bushra A.Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; GOSgene (UCL Great Ormond Street Institute of Child Health) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children, Toronto) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine)
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  

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1 Heath, Karen
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