Research Topics
Species | C KrauszSummaryAffiliation: University of Florence Country: Italy Publications
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Detail Information
Publications
Effects of transmission of Y chromosome AZFc deletionsPhilippos C Patsalis
Cyprus Institute of Neurology and Genetics, Cyprus
Lancet 360:1222-4. 2002..Transmission of Y chromosome microdeletions could potentially have severe clinical consequences other than male infertility, such as the development of sexual ambiguities and Turner stigmata...
Genetic risk factors in male infertilityCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini, 6 Firenze, Italy
Arch Androl 53:125-33. 2007..In this review, recent findings concerning some of the most widely studied polymorphisms and male infertility will be discussed...
Gene polymorphisms/mutations relevant to abnormal spermatogenesisFrancesca Nuti
Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini, 6, 50139 Florence, Italy
Reprod Biomed Online 16:504-13. 2008..Future large-scale studies with stringent study design may provide a more efficient way to identify clinically relevant genetic factors of male infertility...
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal backgroundC Krausz
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6 Florence 50139, Italy
J Med Genet 46:21-31. 2009..This study set out to test these possibilities in a large sample of gr/gr deletion carriers with known phenotypes spanning the complete range...
Partial AZFc deletions and duplications: clinical correlates in the Italian populationClaudia Giachini
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139, Firenze, Italy
Hum Genet 124:399-410. 2008....
Novel insights into DNA methylation features in spermatozoa: stability and peculiaritiesCsilla Krausz
Department of Clinical Physiopathology, Andrology Unit, University of Florence, Florence, Italy
PLoS ONE 7:e44479. 2012....
Sperm cryopreservation in male infertility due to genetic disordersCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini, 6, Firenze, Italy
Cell Tissue Bank 7:105-12. 2006..It is therefore important to be aware about the clinical importance and the related genetic risks of these anomalies. In this article we describe the clinical significance of these diseases...
Y chromosome and male infertility: update, 2006Csilla Krausz
Department of Clinical Physiopathology Center for Research, Transfer and High Education, DENOthe, University of Florence, 50139 Florence, Italy
Front Biosci 11:3049-61. 2006..Future studies should focus on understanding the biological function of AZF genes which is an essential step for the development of more appropriate and knowledge-based therapies...
Y chromosome polymorphisms in medicineCsilla Krausz
Department of Clinical Physiopathology, University of Florence, Florence, Italy
Ann Med 36:573-83. 2004..The situation is rather contradictory for other male-specific or male-associated diseases and further multicenter--possibly multiethnic--studies are needed...
Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertilityCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Italy
Hum Mol Genet 15:2673-81. 2006....
The clinical significance of the POLG gene polymorphism in male infertilityC Krausz
Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini 6, 50139 Florence, Italy
J Clin Endocrinol Metab 89:4292-7. 2004..More importantly, considering that the homozygous mutant genotype has been found in normospermic fertile men, the analysis of the CAG repeat tract of the POLG gene does not appear to have any clinical diagnostic value...
The Y chromosome and male fertility and infertilityCsilla Krausz
Department of Clinical Physiopathology, University of Florence, Florence, Italy
Int J Androl 26:70-5. 2003..Past and present unresolved issues are discussed in this review...
Genetic aspects of testicular germ cell tumorsCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
Cell Cycle 7:3519-24. 2008..This review focuses on genetic factors (both genomic and somatic) involved in the etiology, progression and treatment sensitivity of TGCTs...
The Y chromosome-linked copy number variations and male fertilityC Krausz
Sexual Medicine and Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence 50139, Italy
J Endocrinol Invest 34:376-82. 2011..While searching for new genetic factors on other chromosomes, our work on the Y chromosome still needs to be completed, with special focus on the biological function of the Y genes...
Male infertility: pathogenesis and clinical diagnosisCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, Viale Pieraccini 6, Florence 50137, Italy
Best Pract Res Clin Endocrinol Metab 25:271-85. 2011....
Partial AZFc deletions in infertile men with cryptorchidismC Giachini
Andrology Unit, Department of Clinical Physiopathology, Center for Research, Transfer and Higher Education on Chronic, Inflammatory, Degenerative and Neoplastic Disorders, University of Florence, 6 Viale Pieraccini, 50139 Firenze, Italy
Hum Reprod 22:2398-403. 2007..Since both pathologies can be part of the testicular dysgenesis syndrome (TDS), we aimed to define the role of 'gr/gr' deletion in the aethiopathogenesis of another component of the TDS: cryptorchidism...
Y chromosome and male infertilityC Krausz
Andrology Unit of the University of Florence, Training Centre of the European Academy of Andrology, Florence, Italy
Andrologia 37:219-23. 2005
Klinefelter's syndrome: a clinical and therapeutical updateG Forti
Endocrinology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
Sex Dev 4:249-58. 2010..Furthermore, the genetic risk to the offspring of Klinefelter patients has recently not been found to be greater than that of patients with nonobstructive azoospermia with normal karyotype...
DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differencesL Becherini
Andrology Unit, Department of Clinical Physiopathology, Univeristy of Florence, Viale Pieraccini 6, 50134 Firenze, Italy
Int J Androl 27:375-81. 2004....
Estrogen receptor alpha promoter polymorphism: stronger estrogen action is coupled with lower sperm countElena Guarducci
Department of Clinical Physiopathology, Andrology Unit, University of Florence, Florence, Italy
Hum Reprod 21:994-1001. 2006....
Cyclic adenosine 3',5'-monophosphate-responsive element modulator gene expression in germ cells of normo- and oligoazoospermic menA Peri
Department of Clinical Physiopathology, University of Florence School of Medicine, Italy
J Clin Endocrinol Metab 83:3722-6. 1998..Thus, our results indicate that the lack of a switch in the expression of CREM gene isoforms may be related to impaired spermatogenesis in humans...
Small variations in crucial steps of TUNEL assay coupled to flow cytometry greatly affect measures of sperm DNA fragmentationMonica Muratori
Department of Clinical Physiopathology, Andrology Unit, University of Florence, Firenze, Italy
J Androl 31:336-45. 2010..On the contrary, the TUNEL assay, as measured here, showed low intraassay CVs, resulting in a quite precise technique when performed in established conditions...
Difficulties in achieving vs maintaining erection: organic, psychogenic and relational determinantsG Corona
Department of Clinical Physiopathology, Andrology Unit, University of Florence, Florence, Italy
Int J Impot Res 17:252-8. 2005....
Clinical review 100: Evaluation and treatment of the infertile coupleG Forti
Department of Clinical Physiopathology, University of Florence, Italy
J Clin Endocrinol Metab 83:4177-88. 1998..With most ARTs the average delivery rate per cycle is approximately 15% and the cumulative delivery rate after several cycles is about 50%. (ABSTRACT TRUNCATED)..
Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis?C Krausz
Immunogenetique Humaine, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France and Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, Florence, Italy or
Hum Reprod 15:1431-4. 2000....
Varicocele and infertilityG Forti
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
J Endocrinol Invest 26:564-9. 2003
Persistence of expression of the TMPRSS2:ERG fusion gene after pre-surgery androgen ablation may be associated with early prostate specific antigen relapse of prostate cancer: preliminary resultsL Bonaccorsi
Unit of Andrology, Department of Clinical Physiopathology, University of Florence, Florence, Italy
J Endocrinol Invest 32:590-6. 2009..The recently identified TMPRSS2: ERG fusion gene is a candidate oncogene for prostate cancer (PCa)...
Seladin-1 and testicular germ cell tumours: new insights into cisplatin responsivenessFrancesca Nuti
Andrology Unit, University of Florence, 50139 Florence, Italy
J Pathol 219:491-500. 2009..In conclusion, we have demonstrated for the first time an important role for seladin-1 in the biology of TGCTs and provided new insights into cisplatin responsiveness of these tumours...
TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineagesClaudia Giachini
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence 50139, Italy
J Clin Endocrinol Metab 94:4016-22. 2009..However, data are scarce on TSPY1 copy number variation in different Y lineages and its role in spermatogenesis...
Genetic control of spermiogenesis: insights from the CREM gene and implications for human infertilityCsilla Krausz
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, Florence 50139, Italy
Reprod Biomed Online 10:64-71. 2005..The conservation of these elements and of their regulatory functions in human spermatogenesis indicates that they are likely to provide important insights into understanding the molecular mechanisms of human infertility...
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidismFrancesca Nuti
Andrology Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini 6, 50139 Firenze, Italy
J Clin Endocrinol Metab 93:1072-6. 2008..This conclusion was based on both functional in vitro studies and the lack of mutation in a large group of controls. The geographical origin of the mutation carriers suggested a founder effect in the Mediterranean area...
Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletionsLone Frydelund-Larsen
University Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark
J Clin Endocrinol Metab 87:5618-24. 2002....
Need for standardization and confirmation of STS deletions on the Y chromosomeRobert Ian McLachlan
Fertil Steril 90:463-4; author reply 464. 2008
Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian populationBarbara Arredi
Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy
J Med Genet 44:205-8. 2007..Materials and..
