Results overview: Found 11 records in 0.02 seconds.
Articles, 10 records found
Research literature, 1 records found
Articles 10 records found  
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.
15 p, 400.5 KB The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men : An overview on male genital tract ultrasound reference ranges / Lotti, Francesco (University of Florence) ; Frizza, Francesca (University of Florence) ; Balercia, Giancarlo (Polytechnic University of Marche) ; Barbonetti, Arcangelo (University of L'Aquila) ; Behre, Hermann M. (Martin Luther University Halle-Wittenberg) ; Calogero, Aldo E. (University of Catania) ; Cremers, Jann-Frederik (Münster University Hospital) ; Francavilla, Felice (University of L'Aquila) ; Isidori, Andrea M. (Sapienza University of Rome) ; Kliesch, Sabine (Münster University Hospital) ; La Vignera, Sandro (University of Catania) ; Lenzi, Andrea (Sapienza University of Rome) ; Marcou, Marios (Martin Luther University Halle-Wittenberg) ; Pilatz, Adrian (Justus Liebig University) ; Poolamets, Olev (Tartu University Hospital (Tartu, Estònia)) ; Punab, Margus (Tartu University Hospital (Tartu, Estònia)) ; Peraza, María Fernanda (Institut d'Investigació Biomèdica Sant Pau) ; Quintian, Claudia (Institut d'Investigació Biomèdica Sant Pau) ; Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ; Salvio, Gianmaria (Polytechnic University of Marche) ; Shaeer, Osama (Cairo University) ; Weidner, Wolfgang (Justus Liebig University) ; Maseroli, Elisa (University of Florence) ; Cipriani, Sarah (University of Florence) ; Baldi, Elisabetta (University of Florence) ; Degl'Innocenti, Selene (University of Florence) ; Danza, Giovanna (University of Florence) ; Caldini, Anna Lucia (Careggi Hospital) ; Terreni, Alessandro (Careggi Hospital) ; Boni, Luca (University Hospital Careggi) ; Krausz, Csilla (University of Florence) ; Maggi, Mario (University of Florence) ; Universitat Autònoma de Barcelona
So far, male genital tract color-Doppler ultrasound (MGT-CDUS) was not standardized. Recently, the European Academy of Andrology (EAA) published the results of a multicenter study assessing the CDUS characteristics of healthy-fertile men (HFM) to obtain normative parameters. [...]
2022 - 10.1111/andr.13260
Andrology, Vol. 10 (october 2022) , p. 118-132  
5.
6 p, 4.7 MB Standards in semen examination : publishing reproducible and reliable data based on high-quality methodology / Björndahl, Lars (Karolinska Institutet (Estocolm, Suècia)) ; Barratt, Christopher L. R. (Reproductive Medicine Research Group. Division of Systems Medicine. School of Medicine. Ninewells Hospital. Medical School. University of Dundee) ; Mortimer, David (Oozoa Biomedical Inc.) ; Agarwal, Ashok (Case Western Reserve University) ; Aitken, Robert J. (Priority Research Centre for Reproductive Science. Faculty of Science. Faculty of Health & Medicine. University of Newcastle) ; Alvarez, Juan G. (Harvard Medical School) ; Aneck-Hahn, Natalie (Department of Urology. University of Pretoria) ; Arver, Stefan (Karolinska Institutet (Estocolm, Suècia)) ; Baldi, Elisabetta (Department of Experimental and Clinical Medicine. University of Florence) ; Bassas, Lluís (Institut d'Investigació Biomèdica Sant Pau) ; Boitrelle, Florence (Paris Saclay University. UVSQ. INRAE. BREED) ; Bornman, Riana (School of Health Systems and Public Health. University of Pretoria) ; Carrell, Douglas T. (Department of Human Genetics. University of Utah School of Medicine) ; Castilla, José Antonio (Instituto de Investigación Sanitaria de Granada) ; Cerezo Parra, Gerardo (LAFER Sperm Bank) ; Check, Jerome H. (Department of Obstetrics and Gynecology. Division of Reproductive Endocrinology & Infertility. Cooper Hospital. University Medical Center) ; Cuasnicu, Patricia S. (Instituto de Biología y Medicina Experimental (IbyMECONICET). Ciudad Autónoma de Buenos Aires) ; Darney, Sally Perreault (US NIH) ; de Jager, , Christiaan (Faculty of Health Science. University of Pretoria) ; De Jonge, Christopher J. (University of Minnesota Medical Center. University of Minnesota) ; Drevet, JoëlR. (Université Clermont Auvergne. CNRS. INSERM-GreD Institute) ; Drobnis, Erma Z. (School of Medicine. University of Missouri) ; Du Plessis, Stefan S. (College of Medicine. Mohammed Bin Rashid University of Medicine and Health Sciences) ; Eisenberg, Michael L. (Department of Urology. Stanford University School of Medicine) ; Esteves, Sandro C. (Faculty of Health. Aarhus University) ; Evgeni, Evangelini A. (Laboratory of Physiology. Department of Medicine. Democritus University of Thrace) ; Ferlin, Alberto (Unit of Andrology and Reproductive Medicine. Department of Medicine. University of Padova) ; Garrido, Nicolás (IVI Foundation. Health Research Institute La Fe) ; Giwercman, Aleksander (Department of Translational Medicine. Lund University) ; Goovaerts, Ilse G.F. (University Hospital Antwerp (Bèlgica)) ; Haugen, Trine B. (Department of Life Sciences and Health. Oslo Metropolitan University) ; Henkel, Ralf (Department of Medical Bioscience. University of the Western Cape) ; Henningsohn, Lars (Department of Urology. Karolinska University Hospital) ; Hofmann, Marie-Claude (Department of Endocrine Neoplasia & Hormonal Disorders. University of Texas MD Anderson Cancer Center) ; Hotaling, James M. (Division of Urology. Department of Surgery. University of Utah School of Medicine) ; Jedrzejczak, Piotr (Department of Cell Biology. Poznan University of Medical Science) ; Jouannet, Pierre (Université Paris Descartes) ; Jørgensen, Niels (International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC). Copenhagen University Hospital. Rigshospitalet) ; Kirkman Brown, Jackson C. (Birmingham Women's and Children's NHS Foundation Trust) ; Krausz, Csilla (Department of Biomedical. Experimental and Clinical Sciences "Mario Serio". University of Florence) ; Kurpisz, Maciej (Department of Reproductive Biology and Stem Cells. Institutet of Human Genetics) ; Kvist, Ulrik (Karolinska Institutet (Estocolm, Suècia)) ; Lamb, Dolores J. (Brady Department of Urology. Center for Reproductive Genomics. Englander Institute for Precision Medicine. Weill Cornell Medical College. Cornell University) ; Levine, Hagai (Braun School of Public Health and Community Medicine. Hadassah Medical Center. The Faculty of Medicine. Hebrew University of Jerusalem) ; Loveland, Kate L. (Hudson Institute. Centre for Reproductive Health. Monash University) ; McLachlan, Robert I. (Hudson Institute of Medical Research. Centre for Endocrinology and Metabolism. Monash University) ; Mahran, Ali (Faculty of Medicine. Assiut University) ; Maree, Liana (Department of Medical Bioscience. University of the Western Cape) ; da Silva, Sarah M. (Reproductive Medicine Research Group. Division of Systems Medicine. School of Medicine. Ninewells Hospital. Medical School. University of Dundee) ; Mbizvo, Michael T. (Population Council (International Programs)) ; Meinhardt, Andreas (Department of Anatomy and Cell Biology. Justus-Liebig-University of Giessen) ; Menkveld, Roelof (Department of Obstetrics and Gynaecology. Faculty of Medicine and Health Sciences. Stellenbosch University) ; Mortimer, Sharon T. (Division of REI. Department of Obstetrics & Gynaecology. Faculty of Medicine. University of British Columbia) ; Moskovtsev, Sergey (CreATe Fertility Centre) ; Muller, Charles H. (Male Fertility Laboratory. Department of Urology. University of Washington School of Medicine) ; Munuce, Maria José (Laboratorio de Medicina Reproductiva. Facultad de Ciencias Bioquímicas y Farmacéuticas. Universidad Nacional de Rosario) ; Muratori, Monica (Department of Biomedical. Experimental and Clinical Sciences "Mario Serio". University of Florence) ; Niederberger, Craig (Department of Bioengineering. UIC College of Engineering) ; O'Flaherty, Cristian (Department of Surgery (Urology Division). McGill University) ; Oliva Virgili, Rafael (Universitat de Barcelona) ; Ombelet, Willem (Department of Obstetrics and Gynaecology. ZOL Hospitals. Hasselt University) ; Pacey, Allan A. (Department of Infection. Immunity and Cardiovascular Disease. University of Sheffield) ; Palladino, Michael A. (Bloomfield College) ; Ramasamy, Ranjith (Department of Urology. Miller School of Medicine. University of Miami) ; Ramos, Liliana (Division of Reproductive Medicine. Department of Obstetrics and Gynaecologie. Radboud UMC) ; Rives, Nathalie (Service Laboratoire de Biologie de la Reproduction-CECOS. Equipe Physiopathologie Surrénalienne et Gonadique. Unité Inserm 1239 NorDic. CHU-Hôpitaux de Rouen. UFR Santé. Université de Rouen) ; Rs Roldan, Eduardo (Department of Biodiversity and Evolutionary Biology. Museo Nacional de Ciencias Naturales (CSIC)) ; Rothmann, Susan (Fertility Solutions Inc.) ; Sakkas, Denny (Boston IVF) ; Salonia, Andrea (Division of Experimental Oncology. Unit of Urology. URI. IRCCS Ospedale San Raffaele) ; Sánchez-Pozo, Maria Cristina (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Sapiro, Rosanna (Depto de Histologia y Embriología. Facultad de Medicina Gral. Flores (Uruguay)) ; Schlatt, Stefan (Centre of Reproductive Medicine and Andrology (Münster, Alemanya)) ; Schlegel, Peter N. (Department of Urology. Weill Cornell Medicine (New YorK, USA)) ; Schuppe, Hans-Christian (Department of Urology. Pediatric Urology & Andrology. Justus-Liebig-University. University Hospital of Giessen-Marburg) ; Shah, Rupin (Lilavati Hospital & Research Centre) ; Skakkebæk, Niels E. (Department of Growth and Reproduction. Copenhagen University Hospital. Rigshospitalet) ; Teerds, Katja (Human and Animal Physiology. Wageningen University) ; Toskin, Igor (World Health Organization. Department of Reproductive Health and Research) ; Tournaye, Herman (Centre for Reproductive Medicine. Vrije Universiteit Brussel) ; Turek, Paul J. (The Turek Clinic) ; van der Horst, Gerhard (Department of Animal Science. Stellenbosch University) ; Vazquez-Levin, Monica (IBYME. CONICET-FIBYME) ; Wang, Christina (Division of Endocrinology. Department of Medicine. Harbor-UCLA Medical Center) ; Wetzels, Alex (Radboud University Medical Centre) ; Zeginiadou, Theodosia (Laboratory of Histology-Embryology. Medical School. University of Athens) ; Zini, Armand (Division of Urology. Department of Surgery. St Mary's Hospital. McGill University)
Biomedical science is rapidly developing in terms of more transparency, openness and reproducibility of scientific publications. This is even more important for all studies that are based on results from basic semen examination. [...]
2022 - 10.1093/humrep/deac189
Human Reproduction, Vol. 37 Núm. 11 (january 2022) , p. 2497-2502  
6.
7 p, 268.2 KB X Chromosome-Linked CNVs in Male Infertility : Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance / Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Gunning, Adam C. (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Giachini, Claudia (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Daguin, Fabrice (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Balercia, Giancarlo (Polytechnic University of Marche, Ancona, Italy) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Giacco, Deborah Lo (Institut d'Investigació Biomèdica Sant Pau) ; Ruiz-Castañé, Eduardo (Institut d'Investigació Biomèdica Sant Pau) ; Forti, Gianni (University of Florence and Centre of Excellence DeNothe, Florence, Italy) ; Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Spermatogenesis is a highly complex process involving several thousand genes, only a minority of which have been studied in infertile men. In a previous study, we identified a number of Copy Number Variants (CNVs) by high-resolution array-Comparative Genomic Hybridization (a-CGH) analysis of the X chromosome, including 16 patient-specific X chromosome-linked gains. [...]
2014 - 10.1371/journal.pone.0097746
PloS one, Vol. 9 (june 2014)  
7.
28 p, 2.4 MB Discrimination of Deletion and Duplication Subtypes of the Deleted in Azoospermia Gene Family in the Context of Frequent Interloci Gene Conversion / Vaszkó, Tibor (National Institute of Oncology, Budapest, Hungary) ; Papp, János (National Institute of Oncology, Budapest, Hungary) ; Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Casamonti, Elena (University of Florence, Italy) ; Géczi, Lajos (National Institute of Oncology, Budapest, Hungary) ; Olah, Edith (National Institute of Oncology, Budapest, Hungary) ; Universitat Autònoma de Barcelona
Due to its palindromic setup, AZFc (Azoospermia Factor c) region of chromosome Y is one of the most unstable regions of the human genome. It contains eight gene families expressed mainly in the testes. [...]
2016 - 10.1371/journal.pone.0163936
PloS one, Vol. 11 (october 2016)  
8.
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)  
9.
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  
10.
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  

Research literature 1 records found  
1.
220 p, 6.3 MB Genetics of male infertility : molecular study of non-syndromic cryptorchidism and spermatogenic impairment / Lo Giacco, Deborah Grazia ; Ars, Elisabet, dir. ; Krausz, Csilla, dir. ; Nogués, C. (Carme) (Carme) tut. (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
La presente tesis es una aportación al conocimiento de las bases genéticas de la criptorquidia no sindrómica y de las formas idiopáticas de espermatogénesis anómala. RXFP2 y ESR1 son dos genes candidatos en la etiología de la criptorquidia no sindrómica debido al rol del receptor RXFP2 en el control hormonal del descenso testicular y al posible papel del receptor ESR1 como mediador de los efectos de substancias capaces de interferir con el desarrollo del tracto urogenital masculino. [...]
The present thesis explores the role of specific genetic variants in the etiology of two forms of disturbed male reproductive fitness: non-syndromic cryptorchidism and idiopathic spermatogenic failure. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2013  

See also: similar author names
1 Krausz, C.
1 Krausz, Csilla,
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