Introduction The determinants of PCOS

Thursday, May 12, 2016

Author:
Ricardo Azziz, M.D., M.P.H.…

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Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism Evidence for the involvement of an alternatively spliced isoform

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.

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Whole exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

Thursday, July 30, 2015
Whole exome sequencing identified homozygous mutation in NPAS2 in a family of men with nonobstructive azoospermia.

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Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss

Monday, March 30, 2015
Men with recurrent pregnancy loss and normal semen parameters exhibit increased sperm aneuploidy detected by fluorescence in situ hybridization.

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High incidence of monozygotic twinning after assisted reproduction is related to genetic information but not to assisted reproduction technology itself

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.

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Copy number variation associated with meiotic arrest in idiopathic male infertility

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.

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Fluorescent in situ hybridization of human sperm Diagnostics indications and therapeutic implications

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.

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Polymorphisms in vitamin D related genes and risk of uterine leiomyomata

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.

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Refined phenotyping large cohorts and collaborative research are vital for realizing the potential of genomics to transform care for male infertility

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.

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MED12 mutation frequency in unselected sporadic uterine leiomyomas

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.

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Genetic Considerations in the Patient with Turner Syndrome 45 X with or without Mosaicism

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.

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