Results 51 to 60 of about 2,311 (205)

A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia

Balkan Journal of Medical Genetics, 2013
Globozoospermia is a rare but severe teratozoospermia, characterized by ejaculates consisting completely of round-headed spermatozoa that lack an acrosome or, in partial globozoospermia, containing a variable proportion (20.0-90.0%) of acrosomeless ...
Noveski P, Madjunkova S, Maleva I, Sotiroska V, Petanovski Z, Plaseska-Karanfilska D   +5 more
doaj   +1 more source

A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

Asian Journal of Andrology, 2023
Male infertility is a major reproductive disorder, which is clinically characterized by highly heterogeneous phenotypes of abnormal sperm count or quality.
Si-Yi Zhao, Lan-Lan Meng, Zhao-Li Du, Yue-Qiu Tan, Wen-Bin He, Xiong Wang   +5 more
doaj   +1 more source

Facilitating and inhibiting factors related to treatment adherence in women with polycystic ovary syndrome: a qualitative study [PDF]

, 2017
Background: Adherence issues in PCOS patients have not been examined thoroughly. Patients report prolonged periods of treatment and side effects of drug as the most common reason for withdrawal from treatment.
Allan, Helen T., Bazarganipour, Fatemah, Hosseini, Nazafarin, Taghavi, Seyed-Abdolvahab   +3 more
core   +1 more source

DPY19L2 Deletion as a Major Cause of Globozoospermia [PDF]

The American Journal of Human Genetics, 2011
Globozoospermia, characterized by round-headed spermatozoa, is a rare (< 0.1% in male infertile patients) and severe teratozoospermia consisting primarily of spermatozoa lacking an acrosome. Studying a Jordanian consanguineous family in which five brothers were diagnosed with complete globozoospermia, we showed that the four out of five analyzed ...
Isabelle, Koscinski, Elias, Elinati, Camille, Fossard, Claire, Redin, Jean, Muller, Juan, Velez de la Calle, Françoise, Schmitt, Mariem, Ben Khelifa, Pierre F, Ray, Pierre, Ray, Zaid, Kilani, Christopher L R, Barratt, Stéphane, Viville   +12 more
openaire   +4 more sources

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1 [PDF]

, 2013
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population.
Amorim, Antonio, Aston, Kenneth I., Barros, Alberto, Carracedo, A., Carrell, D.T., Carvalho, Filipa, Conrad, D.F., Dai, Juncheng, Downie, Jonathan, Fernandes, Susana, Gonçalves, João, Guo, Xuejiang, Hu, Z., Huang, N., Hurles, M.E., Lopes, Alexandra, Matthiesen, Rune, Moskovtsev, S., Noordam, Michiel J., Ober, C., Paduch, D.A., Quintela, Ines, Ramu, Avinash, Schiffman, J.D., Schlegel, P.N., Seabra, Catarina, Shah, Jiahao, Sousa, M., Thompson, Emma E, Wilfert, Amy B.   +29 more
core   +3 more sources

Globozoospermia

Kathmandu University Medical Journal
Male infertility may be due to low sperm concentration, poor sperm motility, or abnormal morphology. Among the factors involved in male infertility, there is a rare morphology disorder called “Globozoospermia”. This condition is primarily characterized by the presence of round‐headed spermatozoa, absence of acrosomal cap and cytoskeleton defects around
L, Bhattarai, B, Gautam, B B, Raut, S, Chettri   +3 more
openaire   +2 more sources

Evaluation of infertility [PDF]

, 2017
The most important goal of fertility investigation is to identify the cause(s) of infertility and to prescribe adequate therapy. The couple should be treated as a single unit as each partner contributes a share to the infertility potential of the couple.
Bischof, P., Campana, A., de Agostini, A., Mastrorilli, A., Tawfik, E.   +4 more
core   +3 more sources

Comparative proteomic analysis of spermatozoa isolated by swim-up or density gradient centrifugation [PDF]

, 2015
BACKGROUND: Reports about the morphologic and functional characteristics of spermatozoa prepared by density gradient centrifugation (DC) or swim-up (SU) have produced discordant results.
A Ashrafzadeh, A Hamada, AB Siva, AC Williams, AL Monqaut, BT Storey, C Frapsauce, CW Woschnagg, DC Ding, E Borges Jr, E Chantler, E Goldberg, Elena Giolo, Elisa Giacomini, F Sapienza, F Secciani, G Candiano, G Ricci, G Ricci, Gabriella Zito, Giuseppe Ricci, H Margaryan, J Martinez-Heredia, J Martinez-Heredia, JC Nishihara, JE Welch, K Miki, KA Jaroudi, KL Pixton, L Lefievre, LW Li, M Fraczek, ME Hammadeh, Monica Martinelli, N Tanphaichitr, P Prakash, P Van der Zwalmen, P Vigil, PV Hornbeck, R Sharma, RJ Aitken, Rodolfo C Garcia, RR Henkel, S Beranova-Giorgianni, S De Mateo, S Lopes, S McReynolds, S Saha, SE Kim, SE Ong, Stefania Luppi, T Rabilloud, T-T Liao, TH Hereng, U Paasch, WHO, X Xue   +56 more
core   +2 more sources

Globozoospermia: Is There a Role for Varicocele Repair? [PDF]

Journal of Andrology, 2007
Varicocele is one of the most common abnormalities associated with male infertility. Although a great deal has been written regarding the pathophysiology and management of this lesion, the role of varicocele repair in selected clinical situations may be difficult to determine.
Randall B, Meacham, Hector, Chemes, Douglas, Carrell, Marc, Goldstein   +3 more
openaire   +2 more sources

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Asian Journal of Andrology, 2022
Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing (WES), many genes have now been linked to severe sperm defects.
Zine-Eddine Kherraf, Caroline Cazin, Florence Lestrade, Jana Muronova, Charles Coutton, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray   +7 more
doaj   +1 more source