Thursday, May 12, 2016
Ricardo Azziz, M.D., M.P.H.…
Thursday, October 29, 2015
This study identified six new FGFR1 mutations responsible for IHH and provides evidence that an alternative form of the encoded protein (isoform IIIb) can also cause this disorder.
Thursday, July 30, 2015
Whole exome sequencing identified homozygous mutation in NPAS2 in a family of men with nonobstructive azoospermia.
Monday, March 30, 2015
Men with recurrent pregnancy loss and normal semen parameters exhibit increased sperm aneuploidy detected by fluorescence in situ hybridization.
Friday, February 27, 2015
High incidence of monozygotic twinning in infertility clinic patients is conditioned by hereditary factors, and good ovarian function only facilitates the expression.
Monday, December 29, 2014
In an assessment of the presence of copy number variations (CNV) in men presenting with meiosis arrest and azoospermia, we detected two unique CNVs and several in known meiosis genes.
Tuesday, November 25, 2014
This article presents a review of the diagnostic and therapeutic indications of sperm fluorescent in situ hybridization and how its use affects treatment of patients with infertility and unfavorable pregnancy outcomes.
Wednesday, July 30, 2014
Polymorphisms in the vitamin D pathway (rs12800438 near DHCR7 and rs6058017 in ASIP) were associated with fibroid risk, supporting the hypothesis that vitamin D deficiency is involved in fibroid etiology.
Tuesday, July 1, 2014
Reflections on "Genome-wide copy number analysis 1 and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism" by Izumi et al.
Thursday, June 26, 2014
MED12 mutations inversely correlate with leiomyoma size; in this study where size bias is carefully controlled, over 80% of uterine leiomyomas display a MED12 mutation.
Thursday, September 27, 2012
Turner syndrome, which combines short stature with a 45,X cell line (pure or mosaic), usually results from a male meiotic error. Chromosomal complement does not accurately predict the phenotype.