Results 191 to 200 of about 282,756 (243)
Some of the next articles are maybe not open access.
An XO/XX mosaic sheep with associated gonadal dysgenesis
Research in Veterinary Science, 1984A female sheep with an apparent XO/XX karyotype was discovered while screening barren ewes. The animal exhibited a normal phenotype. This is the first reported case of mosaicism associated with gonadal dysgenesis in the sheep.
M S, Baylis, D M, Wayte, J B, Owen
openaire +2 more sources
American Journal of Medical Genetics. Part A, 2019
The importance of gonadal mosaicism in families with apparently de novo mutations is being increasingly recognized. We report on two affected brothers initially suggestive of X‐linked or autosomal recessive inheritance.
M. Hančárová +6 more
semanticscholar +1 more source
The importance of gonadal mosaicism in families with apparently de novo mutations is being increasingly recognized. We report on two affected brothers initially suggestive of X‐linked or autosomal recessive inheritance.
M. Hančárová +6 more
semanticscholar +1 more source
Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks
American Journal of Medical Genetics, 2005The recurrence risk for Down syndrome (DS) is about 1% in case of a previous offspring with trisomy 21 and minimal in case of a de novo (21;21) translocation. We have monitored 1,211 pregnancies in the first and second trimester after a prior occurrence of trisomy 21. Six couples had a trisomy 21 fetus in a subsequent pregnancy.
E S, Sachs +4 more
openaire +2 more sources
Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism
Clinical Genetics, 1977A female patient with a gonodal mucinous cystadenoma on the right side and a gonado‐blastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic, This brings the total number of cases with dicentric Y chromosome reported to date to 23.Together with the available evidence, the information derived from this case supports the hypothesis that the gene ...
K L, Ying, E J, Ives, O D, Stephenson
openaire +2 more sources
Variation of gonadal dysgenesis and tumor risk in patients with 45,X/46,XY mosaicism.
Urology, 2019OBJECTIVE To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes.
F. Matsumoto +4 more
semanticscholar +1 more source
Malignant ovarian germ cell tumours in gonadal Y chromosome mosaicism
Journal of Clinical Pathology, 2011Aims Previous studies have shown that two partially overlapping mechanisms are responsible for the development of malignant ovarian germ cell tumours (MOGCT): either spontaneous mutations, mostly in KIT gene, or the presence of Y chromosome material, in dysgenetic gonads.
Reza, Shahsiah +5 more
openaire +2 more sources
Multifetal pregnancy in a gonadal dysgenesis mosaic.
Obstetrics and gynecology, 1990A successful triplet gestation in a 45,X/46,XY woman is presented. A previously hypoplastic uterus was prepared for implantation by exogenous hormone replacement. Conception was achieved through in vitro fertilization of donor oocytes and transfer of four embryos into a hormonally primed endometrium.
A D, Bardeguez, D, De Ziegler, G, Weiss
openaire +1 more source
Gonadal mosaicism in hereditary angioedema
Clinical Genetics, 2006GUARINO, STEFANO +8 more
openaire +3 more sources
American Journal of Medical Genetics. Part A, 2017
Shahida Moosa +7 more
semanticscholar +1 more source
Shahida Moosa +7 more
semanticscholar +1 more source
Genetic counseling in Angelman syndrome: Gonadal mosaicism
American Journal of Medical Genetics, 1998H J, Stalker, C A, Williams, J, Wagstaff
openaire +2 more sources