OLIGOGENIC ANALYSIS ACROSS BROAD PHENOTYPES OF 46,XY DIFFERENCES IN SEX DEVELOPMENT ASSOCIATED WITH NR5A1/SF-1 VARIANTS: FINDINGS FROM THE INTERNATIONAL SF1NEXT STUDYRESEARCH IN CONTEXT

Summary: Background: Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants.Methods: We investigated genetic patterns of possible oligogenicity in a cohort of 30 individuals with NR5A1/SF-1 variants and 46,XY DS

Massively parallel sequencing of cell-free, maternal plasma DNA was recently demonstrated to be a safe and effective screening method for fetal chromosomal Dishwasher Display Module aneuploidies.Here, we report an improved sequencing method achieving significantly increased throughput and decreased cost by replacing laborious sequencing library pre

PRO BIOMAX B COMPLEX The self-consistent no parabolic calculation of a V-groove-quantum-wire (VQWR) band structure is presented.A comparison with the parabolic flat-band model of VQWR shows that both, the self-consistency and the nonparabolicity shift sub band edges, in some cases even in the opposite directions.These shifts indicate that for an ac

The resection Bath Mats of bulky lymph node metastases, which may provide a therapeutic benefit, has been proposed in several studies based on laparotomy and laparoscopy.There is no published study in the literature examining the resection of bulky lymph node metastases using a robotic technique.In this report, we presented a patient with cervical