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1-11 of 11
Keywords: Infertility
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Journal Articles
Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2024) 164 (2): 78–84.
Published Online: 24 May 2024
...Joana Seixas; Niklas Padutsch; Stefanie Kankel; Thomas Liehr; Alody Sy Introduction: The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility...
Journal Articles
Molecular Analysis of Parthenogenetic Chimerism in a 46,XX/46,XY Patient with Idiopathic Oligoasthenoteratozoospermia
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2024) 164 (1): 16–22.
Published Online: 18 March 2024
..., instructions or products referred to in the content or advertisements. 2024 Parthenogenetic chimerism Short tandem repeat Infertility Oligoasthenoteratozoospermia Established Facts Parthenogenetic chimera, resulting from endoreplication of the female pronucleus via mitotic divisions...
Journal Articles
The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems
Available to PurchaseElisavet Kouvidi, Haralambia Tsarouha, Sophia Zachaki, Christina Katsidi, Hara Tsimela, Amelia Pantou, Emmanuel Kanavakis, Ariadni Mavrou
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2023) 163 (5-6): 274–278.
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...
Journal Articles
Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature
Available to PurchaseSubject Area:
Genetics
Sahar El Fekih, Nadia Gueganic, Corinne Tous, Nathalie Douet-Guilbert, Sophie Blesson, Frédéric Morel, Aurore Perrin
Journal:
Cytogenetic and Genome Research
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...
Journal Articles
Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF
Available to PurchaseSubject Area:
Genetics
Elisavet Kouvidi, Sophia Zachaki, Haralampia Tsarouha, Amelia Pantou, Kalliopi N. Manola, Emmanuel Kanavakis, Ariadni Mavrou
Journal:
Cytogenetic and Genome Research
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. [email protected] Different types of mosaic karyotypes exhibiting 1, 2, or more aneuploid cell lines were detected (Table...
Journal Articles
Mus musculus Barrier-To-Autointegration Factor 2 ( Banf2 ) is Not Essential for Spermatogenesis or Fertility
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
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...
Journal Articles
Small Supernumerary Marker Chromosomes in Human Infertility
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
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...
Journal Articles
A Tortoiseshell Male Cat: Chromosome Analysis and Histologic Examination of the Testis
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2014) 142 (2): 107–111.
Published Online: 06 December 2013
... (2003). 14. Vella CM, Shelton LM, McGonagle JJ, Stanglein WT: Robinson's Genetics for Cat Breeders and Veterinarians, ed 4, (Butterworth-Heinemann, Burlington 1999). Cat Infertility Male cat Tortoiseshell cat XXY karyotype Tortoiseshell male cats only occur if a male cat has cells...
Journal Articles
45,X/46,X,r(Y)/46,X,dic r(Y) Karyotype in an Azoospermic Male: A Case Report
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
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...
Journal Articles
Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
Cytogenet Genome Res (2012) 136 (4): 270–277.
Published Online: 08 June 2012
... that the precise identification of structural Y chromosome aberrations may be clinically important for genetic counseling and assisted reproductive technology treatment. AZF region microdeletions Infertility Structural Y chromosome aberrations The human Y chromosome is one of the smallest human...
Journal Articles
Overexpression of Lis1 in Different Stages of Spermatogenesis Does Not Result in an Aberrant Phenotype
Available to PurchaseSubject Area:
Genetics
Journal:
Cytogenetic and Genome Research
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...