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Elisavet Kouvidi, Haralambia Tsarouha, Sophia Zachaki, Christina Katsidi, Hara Tsimela, Amelia Pantou, Emmanuel Kanavakis, Ariadni Mavrou
Cytogenet Genome Res 1–5.
Published Online: 03 October 2023
... an important role in female infertility. This study aimed to determine the types and frequency of X chromosome aberrations detected in women referred for cytogenetic investigation due to reproductive problems. Methods: 2,936 women (average age: 37.5 years) were enrolled in the present study. Peripheral blood...
Sahar El Fekih, Nadia Gueganic, Corinne Tous, Nathalie Douet-Guilbert, Sophie Blesson, Frédéric Morel, Aurore Perrin
Cytogenet Genome Res (2022) 162 (1-2): 34–39.
Published Online: 07 April 2022
... times more common in infertile men than in the general population. This study aimed at characterizing a supernumerary marker chromosome in a nonconsanguineous infertile couple and analyzing its meiotic segregation in sperm by multicolor FISH. The male partner’s karyotype was mos 47,XY,+idic(15)(pter...
Elisavet Kouvidi, Sophia Zachaki, Haralampia Tsarouha, Amelia Pantou, Kalliopi N. Manola, Emmanuel Kanavakis, Ariadni Mavrou
Cytogenet Genome Res (2021) 161 (12): 551–555.
Published Online: 20 January 2022
... chromosome mosaicism and the number of aneuploid cell lines observed in women of AMA could be an indication of aneuploidy and poor quality of oocytes contributing to infertility. firstname.lastname@example.org 25 06 2021 21 12 2021 20 1 2022 © 2022 S. Karger AG, Basel 2022 Copyright...
Cytogenet Genome Res (2021) 161 (3-4): 167–177.
Published Online: 05 May 2021
... of BAF has been shown to lead to embryonic lethality and gonadal defects. The BAF paralog, namely, barrier-to-autointegration factor 2 ( BANF2 ), exhibits a testis-predominant expression pattern in both humans and mice. Unlike BAF , it may cause isolated male infertility. Therefore, we used the CRISPR...
Cytogenet Genome Res (2015) 146 (2): 100–108.
Published Online: 14 August 2015
... and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database ( http://ssmc-tl.com/sSMC.html...
Cytogenet Genome Res (2014) 142 (2): 107–111.
Published Online: 06 December 2013
... μm. Cat Infertility Male cat Tortoiseshell cat XXY karyotype Tortoiseshell male cats only occur if a male cat has cells with different X chromosomes: one type of X chromosome carrying the orange coat color and another type carrying the non-orange coat color at the same locus. Due...
Cytogenet Genome Res (2014) 142 (2): 140–144.
Published Online: 06 December 2013
...Y. Dong; X.W. Yu; R.X. Wang; L.L. Li; Y.T. Jiang; R.Z. Liu Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic...
Cytogenet Genome Res (2012) 136 (4): 270–277.
Published Online: 08 June 2012
.... These patients included 15 men with primary infertility who attended the Department of Urology, 3 men with Y chromosomal abnormalities confirmed by other hospitals, 5 men with paternal testing for Y chromosome aberration in amniocytes, 2 men whose partners experienced recurrent abortion and 1 woman with short...
Cytogenet Genome Res (2011) 134 (4): 269–282.
Published Online: 05 July 2011
...N. Drusenheimer; K. Nayernia; A. Meinhardt; B. Jung; H.-H. Arnold; W. Engel Previous studies showed that in the mouse mutant Lis1 GT/GT gene trap integration in intron 2 of Lis1 gene leads to male infertility in homozygous Lis1 GT/GT mice. We further analyzed this line and could confirm...