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Page 1
Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. Acta Biomed. 2019. PMID: 31577257 Free PMC article. Review.
Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. ...Androgen insensitivity, causing hormonal and sexual impairment in males …
Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have onl …
CATSPER-Related Male Infertility - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Hildebrand MS, Avenarius MR, Smith RJH. Hildebrand MS, et al. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301780 Free Books & Documents. Review.
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infert …
THIS ARCHIVAL VERSION IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. CLINICAL CHARACTERISTICS: CATSPER-related …
Male infertility may be associated with IFT140-related autosomal recessive retinitis pigmentosa.
Huang L, Kellom E, Stepien K. Huang L, et al. Ophthalmic Genet. 2023 Dec 11:1-4. doi: 10.1080/13816810.2023.2291672. Online ahead of print. Ophthalmic Genet. 2023. PMID: 38084016
IFT140 variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in IFT140 have not been reported in patients with concurrent RP (including nonsyndromic RP) and infertility. METHODS: A chart review was performe …
IFT140 variants have also been shown to cause spermatogenic dysfunction leading to infertility. However, variants in IFT140 have not …
Genetic evaluation of patients with non-syndromic male infertility.
Okutman O, Rhouma MB, Benkhalifa M, Muller J, Viville S. Okutman O, et al. J Assist Reprod Genet. 2018 Nov;35(11):1939-1951. doi: 10.1007/s10815-018-1301-7. Epub 2018 Sep 26. J Assist Reprod Genet. 2018. PMID: 30259277 Free PMC article. Review.
PURPOSE: This review provides an update on the genetics of male infertility with emphasis on the current state of research, the genetic disorders that can lead to non-syndromic male infertility, and the genetic tests available for patients. ...CONCLUSI …
PURPOSE: This review provides an update on the genetics of male infertility with emphasis on the current state of research, th …
Genetic male infertility and mutation of CATSPER ion channels.
Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ. Hildebrand MS, et al. Eur J Hum Genet. 2010 Nov;18(11):1178-84. doi: 10.1038/ejhg.2010.108. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648059 Free PMC article. Review.
Despite advances in clinical diagnostics 50% of male infertility cases remain idiopathic. Based on this, further analysis of infertile males is required to identify new genetic factors involved in male infertility. ...Previously, contiguous gene deleti …
Despite advances in clinical diagnostics 50% of male infertility cases remain idiopathic. Based on this, further analysis of i …
Improved phenotypic classification of male infertility to promote discovery of genetic causes.
Wyrwoll MJ, van der Heijden GW, Krausz C, Aston KI, Kliesch S, McLachlan R, Ramos L, Conrad DF, O'Bryan MK, Veltman JA, Tüttelmann F. Wyrwoll MJ, et al. Nat Rev Urol. 2024 Feb;21(2):91-101. doi: 10.1038/s41585-023-00816-0. Epub 2023 Sep 18. Nat Rev Urol. 2024. PMID: 37723288 Review.
An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype-phenotyp …
An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying gen …
[Genetic aspects of male infertility: From bench to clinic].
Ben Rhouma M, Okutman O, Muller J, Benkhalifa M, Bahri H, Ben Rhouma K, Tebourbi O, Viville S. Ben Rhouma M, et al. Gynecol Obstet Fertil Senol. 2019 Jan;47(1):54-62. doi: 10.1016/j.gofs.2018.11.004. Epub 2018 Dec 1. Gynecol Obstet Fertil Senol. 2019. PMID: 30514637 Review. French.
OBJECTIVES: The objective of our manuscript is to review the current state of research on the genetics of male infertility, highlighting the genetic abnormalities that can lead to non-syndromic male infertility and genetic testing proposed to patients. …
OBJECTIVES: The objective of our manuscript is to review the current state of research on the genetics of male infertility, hi …
MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility.
Röpke A, Tüttelmann F. Röpke A, et al. Eur J Endocrinol. 2017 Nov;177(5):R249-R259. doi: 10.1530/EJE-17-0246. Epub 2017 Jun 13. Eur J Endocrinol. 2017. PMID: 28611019 Review.
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. ...Therefore, it is not surprising that the X chromosome, considered as the female counterpart of the male-associated Y chromosome, may actually p …
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or a-zoospermia. ...Therefore, …
A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.
Kherraf ZE, Barbotin AL, Martinez G, Mazet A, Cazin C, Coutton C, Arnoult C, Thierry-Mieg N, Rives N, Rives-Feraille A, Ray PF. Kherraf ZE, et al. Clin Genet. 2024 Feb;105(2):220-225. doi: 10.1111/cge.14450. Epub 2023 Nov 11. Clin Genet. 2024. PMID: 37950557
Defects in many of these genes have been described to induce primary ciliary dyskinesia (PCD) mainly characterized by chronic respiratory infections, situs inversus and/or infertility. In men, cilia/flagella-related infertility is usually caused by asthenozoospermia …
Defects in many of these genes have been described to induce primary ciliary dyskinesia (PCD) mainly characterized by chronic respiratory in …
Splicing mutation in Sbf1 causes nonsyndromic male infertility in the rat.
Liška F, Chylíková B, Janků M, Šeda O, Vernerová Z, Pravenec M, Křen V. Liška F, et al. Reproduction. 2016 Sep;152(3):215-23. doi: 10.1530/REP-16-0042. Epub 2016 Jun 22. Reproduction. 2016. PMID: 27335132
In the inbred SHR/OlaIpcv rat colony, we identified males with small testicles and inability to reproduce. By selectively breeding their parents, we revealed the infertility to segregate as an autosomal recessive Mendelian character. ...Human homozygotes or compound hetero …
In the inbred SHR/OlaIpcv rat colony, we identified males with small testicles and inability to reproduce. By selectively breeding their par …
71 results