Results 81 to 90 of about 3,493 (177)

Ovarian function and X chromosome tissue mosaicism in adolescents with Turner syndrome and ongoing spontaneous puberty

Frontiers in Endocrinology
IntroductionThe maintenance of normal ovarian function depends on the presence of two structurally intact X chromosomes, which explains the high risk of premature ovarian insufficiency in individuals with Turner syndrome (TS).
Anna Turchinets, Olga Stupko, Elena Uvarova, Elena Uvarova, Polina Tsabai, Alina Badlaeva, Alina Badlaeva, Alexandra Asaturova, Alexandra Asaturova, Nail Kamaletdinov, Elena Khashchenko, Zaira Kumykova, Dmitry Trofimov, Svetlana Yureneva, Alla Gavisova, Gennady Sukhikh, Gennady Sukhikh   +16 more
doaj   +1 more source

Fetal tuberous sclerosis and diagnosis of paternal gonadal mosaicism [PDF]

Ultrasound in Obstetrics & Gynecology, 2020
B. Tutschek, K. Mayer, A. Rauch
openaire   +2 more sources

Gonadal mosaicism and non-invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders. [PDF]

Prenat Diagn, 2017
Wilkie AOM, Goriely A.
europepmc   +1 more source

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the <i>LMNA</i> p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients. [PDF]

Genes (Basel)
Nuzhnaya E, Sharova M, Chubykina U, Orlova A, Vorontsova E, Vasiliev P.   +5 more
europepmc   +1 more source

Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. [PDF]

Mol Genet Genomic Med, 2018
Bai Z, Kong X.
europepmc   +1 more source

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder. [PDF]

Int J Mol Sci
Zsigmond A, Till Á, Bene J, Czakó M, Mikó A, Hadzsiev K.   +5 more
europepmc   +1 more source

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy. [PDF]

Eur J Hum Genet, 2017
Ewans LJ, Field M, Zhu Y, Turner G, Leffler M, Dinger ME, Cowley MJ, Buckley MF, Scheffer IE, Jackson MR, Roscioli T, Shoubridge C.   +11 more
europepmc   +1 more source

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis

Endocrinology Research and Practice
: Infertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%.
Ceren Erdoğan Eroğlu, Süheyla Görar, Barış Paksoy   +2 more
doaj  

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity. [PDF]

Am J Case Rep
Zeng W, Lin S, Zheng J, Zheng Z, Li C, Yang G, Yao J, Duan S.   +7 more
europepmc   +1 more source

Influence of the Y chromosome on gonadal differentiation: asymmetrical gonads in an XO-XY mosaic. [PDF]

Journal of Medical Genetics, 1967
P E, Ferrier, V C, Kelley
openaire   +2 more sources