Results 251 to 260 of about 97,243 (292)

Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults

Medical Journal of Australia, Volume 223, Issue 9, Page 484-491, November 2025.
Abstract Introduction Monogenic diabetes accounts for 2–5% of diabetes. Although its identification has substantial therapeutic implications, more than 80% of affected individuals are undiagnosed or misdiagnosed as having type 1 or 2 diabetes. This consensus statement reviews genetic testing for monogenic diabetes in adults and provides evidence‐based ...
Sunita MC De Sousa, Timothy ME Davis, James Harraway, Mark Greenslade, Kathy HC Wu, Ryan G Paul, Juliet Taylor, Aleena S Ali, Elif I Ekinci, Rinki Murphy, Jerry R Greenfield   +10 more
wiley   +1 more source

Conventional in vitro fertilization enhances preimplantation genetic testing for aneuploidy outcomes in couples with non-male factor infertility. [PDF]

Sci Rep
Li X, Li Q, Chang Y, He S, Wang Y, Liang X, Zhang Z.   +6 more
europepmc   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, Volume 599, Issue 21, Page 3124-3149, November 2025.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

Beyond Spherical: Unveiling the Significance of Oval Blastocyst Morphology on Euploidy and Implantation Success. [PDF]

Cells
Wyroba J, Kuczyńska A, Kasperkowicz K, Kostarczyk K, Kordowitzki P, Kochan J.   +5 more
europepmc   +1 more source

Circulating tumor DNA monitoring and blood tumor mutational burden in patients with metastatic solid tumors treated with atezolizumab

Molecular Oncology, Volume 19, Issue 11, Page 3060-3078, November 2025.
In patients treated with atezolizumab as a part of the MyPathway (NCT02091141) trial, pre‐treatment ctDNA tumor fraction at high levels was associated with poor outcomes (radiographic response, progression‐free survival, and overall survival) but better sensitivity for blood tumor mutational burden (bTMB).
Charles Swanton, Russell W. Madison, Candice Francheska B. Tambaoan, Funda Meric‐Bernstam, Christopher J. Sweeney, Razelle Kurzrock, Howard A. Burris III, David R. Spigel, Hanna Tukachinsky, Jason Hughes, Julia Malato, Bongin Yoo, Tania Szado, Cheryl Schwab, Lincoln W. Pasquina, Amaya Gasco, Katja Schulze, Claire F. Friedman   +17 more
wiley   +1 more source

Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping. [PDF]

Animals (Basel)
Ryan CA, Berry DP, Bugno-Poniewierska M, Burke MK, Raudsepp T, Egan S, Doyle JL.   +6 more
europepmc   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

From cytogenetics to proteogenomics: new horizons in the study of aneuploidies. [PDF]

Vavilovskii Zhurnal Genet Selektsii
Zadesenets KS, Rubtsov NB.
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Genome-Wide Cell-Free DNA Analysis for Aneuploidy Detection in Miscarriages: Test Performance Meta-Analysis. [PDF]

Prenat Diagn
Pauta M, Martinez-Portilla RJ, Jara-Ettinger AC, Ardiles-Ruesjas V, Borrell A.   +4 more
europepmc   +1 more source