Resultados globales: 7 registros encontrados en 0.02 segundos.
Artículos, Encontrados 7 registros
Artículos Encontrados 7 registros  
1.
15 p, 1.2 MB A systematic review of the validated monogenic causes of human male infertility : 2020 update and a discussion of emerging gene-disease relationships / Houston, Brendan J. (School of BioSciences and Bio21 Institute. The University of Melbourne) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Wyrwoll, Margot J. (Institute of Reproductive Genetics. University of Münster) ; Salas-Huetos, Albert (Department of Nutrition. Harvard T.H. Chan School of Public Health. Harvard University) ; Xavier, Miguel J. (Faculty of Medical Sciences. Biosciences Institute. Newcastle University) ; Nagirnaja, Liina (Genetics of Male Infertility Initiative (GEMINI)) ; Friedrich, Corinna (Institute of Reproductive Genetics. University of Münster) ; Conrad, Donald F. (International Male Infertility Genomics Consortium (IMIGC)) ; Aston, Kenneth I. (International Male Infertility Genomics Consortium (IMIGC)) ; Krausz, Csilla (University of Florence) ; Tüttelmann, Frank (International Male Infertility Genomics Consortium (IMIGC)) ; O'bryan, Moira K. (International Male Infertility Genomics Consortium (IMIGC)) ; Veltman, Joris A. (International Male Infertility Genomics Consortium (IMIGC)) ; Oud, Manon S. (Department of Human Genetics. Donders Institute for Brain. Cognition and Behaviour. Radboudumc) ; Universitat Autònoma de Barcelona
Background: Human male infertility has a notable genetic component, including well-established diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and monogenic causes. Approximately 4% of all infertile men are now diagnosed with a genetic cause, but a majority (60-70%) remain without a clear diagnosis and are classified as unexplained. [...]
2022 - 10.1093/humupd/dmab030
Human Reproduction Update, Vol. 28 Núm. 1 (january 2022) , p. 15-29  
2.
18 p, 4.7 MB Diverse monogenic subforms of human spermatogenic failure / Nagirnaja, Liina (Oregon Health & Science University) ; Lopes, Alexandra M. (IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto) ; Charng, Wu-Lin (Washington University) ; Miller, Brian (Oregon Health & Science University) ; Stakaitis, Rytis (Lithuanian University of Health Sciences) ; Golubickaite, Ieva (Lithuanian University of Health Sciences) ; Stendahl, Alexandra (Oregon Health & Science University) ; Luan, Tianpengcheng (The University of Melbourne) ; Friedrich, Corinna (University of Münster) ; Mahyari, Eisa (Oregon Health & Science University) ; Fadial, Eloise (Oregon Health & Science University) ; Kasak, Laura (University of Tartu) ; Vigh-Conrad, Katinka (Oregon Health & Science University) ; Oud, Manon S. (Radboud University Medical Centre) ; Xavier, Miguel (Newcastle University) ; Cheers, Samuel R. (The University of Melbourne) ; James, Emma R. (University of Utah School of Medicine) ; Guo, Jingtao (University of Utah School of Medicine) ; Jenkins, Timothy G. (University of Utah School of Medicine) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Barros, Alberto (Faculdade de Medicina da Universidade do Porto) ; Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto) ; Fernandes, Susana (Faculdade de Medicina da Universidade do Porto) ; Gonçalves, João (Nova Medical School) ; Gurnett, Christina A. (Washington University.) ; Jørgensen, Niels (Copenhagen University Hospital - Rigshospitalet) ; Jezek, Davor (University of Zagreb School of Medicine) ; Jungheim, Emily S. (Division of Reproductive Endocrinology) ; Kliesch, Sabine (University Hospital of Münster (Alemanya)) ; McLachlan, Robert I. (Monash University) ; Omurtag, Kenan R. (Division of Reproductive Endocrinology) ; Pilatz, Adrian (Justus Liebig University) ; Sandlow, Jay I. (Medical College of Wisconsin) ; Smith, James (University California San Francisco) ; Eisenberg, Michael L. (Stanford University School of Medicine) ; Hotaling, James M. (University of Utah School of Medicine) ; Jarvi, Keith A. (University of Toronto) ; Punab, Margus (University of Tartu) ; Rajpert-De Meyts, Ewa (Copenhagen University Hospital - Rigshospitalet) ; Carrell, Douglas T. (University of Utah School of Medicine) ; Krausz, Csilla (University of Florence) ; Laan, Maris (University of Tartu) ; O'Bryan, Moira Kathleen (Monash University) ; Schlegel, Peter N. (Weill Cornell Medicine) ; Tüttelmann, Frank (University of Münster) ; Veltman, Joris A. (Newcastle University) ; Almstrup, Kristian (Copenhagen University Hospital - Rigshospitalet) ; Aston, Kenneth I. (University of Utah School of Medicine) ; Conrad, Donald F. (Oregon Health & Science University) ; Universitat Autònoma de Barcelona
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. [...]
2022 - 10.1038/s41467-022-35661-z
Nature communications, Vol. 13 (december 2022)  
3.
19 p, 4.9 MB Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer / Chan, Donovan (Research Institute of the McGill University Health Centre) ; Oros Klein, Kathleen (Jewish General Hospital) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Krausz, Csilla (University of Florence) ; O'Flaherty, Cristian (McGill University) ; Chan, Peter (McGill University) ; Robaire, Bernard (McGill University) ; Trasler, Jacquetta M. (McGill University) ; Universitat Autònoma de Barcelona
Combination chemotherapy has contributed to increased survival from Hodgkin disease (HD) and testicular cancer (TC). However, questions concerning the quality of spermatozoa after treatment have arisen. [...]
2023 - 10.1186/s13148-022-01417-1
Clinical Epigenetics, Vol. 15 (january 2023)  
4.
10 p, 1.6 MB A de novo paradigm for male infertility / Oud, Manon S (Radboudumc) ; Smits, R. M. (Radboudumc) ; Smith, H. E. (Newcastle University) ; Mastrorosa, Francesco Kumara (Newcastle University) ; Holt, G. S. (Newcastle University) ; Houston, B. J. (The University of Melbourne) ; de Vries, P. F. (Radboudumc) ; Alobaidi, Bilal K. (Newcastle University) ; Batty, L. E. (Newcastle University) ; Ismail, H. (Newcastle University) ; Greenwood, J. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ; Sheth, Harsh (Institute of Human Genetics, Ahmedabad) ; Mikulasova, A. (Newcastle University. Biosciences Institute, Faculty of Medical Sciences) ; Astuti, G. D. N. (Diponegoro University. Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine) ; Gilissen, Christian (Radboudumc) ; McEleny, K. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ; Turner, H. (The Newcastle upon Tyne Hospitals NHS Foundation Trust) ; Coxhead, Jonathan (Newcastle University) ; Cockell, S. (Newcastle University, Newcastle upon Tyne) ; Braat, Didi (Radboudumc) ; Fleischer, K. (Radboudumc) ; D'Hauwers, K. W. M. (Radboudumc) ; Schaafsma, E. (Radboudumc) ; Nagirnaja, Liina (Oregon Health & Science University) ; Conrad, Donald F. (Oregon Health & Science University) ; Friedrich, C. (University of Münster) ; Kliesch, Sabine (University Hospital of Münster (Alemanya)) ; Aston, Kenneth I (University of Utah School of Medicine) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Krausz, Csilla (University of Florence) ; Gonzaga-Jauregui, C. (Regeneron Genetics Center) ; Santibanez-Koref, M. (Newcastle University) ; Elliott, D. J. (Newcastle University) ; Vissers, Lisenka (Radboudumc) ; Tüttelmann, Frank (University of Münster) ; O'Bryan, Moira Kathleen (The University of Melbourne) ; Ramos, Liliana (Radboudumc) ; Xavier, Miguel (Newcastle University) ; van der Heijden, G. W. (Radboudumc) ; Veltman, Joris A. (Newcastle University) ; Universitat Autònoma de Barcelona
De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. [...]
2022 - 10.1038/s41467-021-27132-8
Nature communications, Vol. 13 (january 2022)  
5.
13 p, 710.6 KB The X chromosome and male infertility / Vockel, Matthias (University of Münster. Institute of Human Genetics) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Tüttelmann, Frank (University of Münster. Institute of Human Genetics) ; Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
The X chromosome is a key player in germ cell development, as has been highlighted for males in previous studies revealing that the mammalian X chromosome is enriched in genes expressed in early spermatogenesis. [...]
2019 - 10.1007/s00439-019-02101-w
Human Genetics, Vol. 140 (december 2019) , p. 203-215  
6.
18 p, 656.9 KB Design, optimization and validation of genes commonly used in expression studies on DMH/AOM rat colon carcinogenesis model / Bars-Cortina, David (Universitat de Lleida. Escola Tècnica Superior d'Enginyeria Agrària) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Gou Alsina, Gemma (Institut d'Investigació Biomèdica Sant Pau) ; Piñol-Felis, Carme (Universitat de Lleida. Departament de Medicina) ; Motilva, Maria-José (Universidad de La Rioja. Instituto de Ciencias de la Vid y del Vino) ; Universitat Autònoma de Barcelona
Colorectal cancer (CRC), also known as colon cancer, is the third most common form of cancer worldwide in men and the second in women and is characterized by several genetic alterations, among them the expression of several genes. [...]
2019 - 10.7717/peerj.6372
PeerJ, Vol. 7 (january 2019)  
7.
36 p, 3.1 MB From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia / Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Moreno-Mendoza, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Ruiz-Castañé, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona
Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. [...]
2019 - 10.1038/s41436-018-0037-1
Genetics in Medicine, Vol. 21, issue 1 (Jan. 2019) , p. 189-194  

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