Results 261 to 270 of about 95,739 (341)

O-025 Mutation analysis of the testicular determining region on Y (SRY) gene in subjects with complete (n=9) or partial (n=12) failure of testicular development caused by Y aneuploidy

, 1997
Sandra P.T. Tho, Y.Y Zhang, Keith A. Hansen, Leo Plouffe, Imran Ali Khan, Paul G. McDonough   +5 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Methylation aberrations and genomic instability synergistically drive the evolution of intrahepatic cholangiocarcinoma. [PDF]

Epigenomics
Li G, Bai Y, Tao F, Hu T, Wang T, Zeng Y, Sun D.   +6 more
europepmc   +1 more source

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell‐free DNA screening

Journal of Genetic Counseling, Volume 34, Issue 5, October 2025.
Abstract Cell‐free DNA screening (cfDNA), also referred to as noninvasive prenatal screening (NIPS), is utilized to screen for fetal chromosomal aneuploidies during pregnancy, including sex chromosome aneuploidies (SCAs). All patients within our center are offered diagnostic testing following a positive cfDNA for an SCA, but not all patients pursue ...
Cali FitzGerald, Shama P. Khan, Pranali Shingala, Gary Heiman, Elena Ashkinadze   +4 more
wiley   +1 more source

Cell competition eliminates aneuploid human pluripotent stem cells. [PDF]

Stem Cell Reports
Ya A, Deng C, Godek KM.
europepmc   +1 more source

Evaluation of aneuploidy and DNA damage in human spermatozoa: applications in field studies

, 2000
Sally D. Perreault, Jiřı́ Rubeš, W. A. Robbins, D.P. Evenson, S G Selevan   +4 more
openalex   +1 more source

First‐Tier Versus Last‐Tier Trio Whole‐Genome Sequencing for the Diagnosis of Pediatric‐Onset Rare Diseases

Clinical Genetics, Volume 108, Issue 4, Page 412-421, October 2025.
This study shows increased diagnostic rates and clinical utility of trio‐Whole‐Genome Sequencing (WGS) as a first‐tier test for both critical and non‐critical patients with suspected genetic pediatric‐onset conditions. It also demonstrates the feasibility of implementing a genome‐first diagnostic approach into routine clinical practice in a public ...
Camilla Lucca, Erica Rosina, Lidia Pezzani, Daniela Piazzolla, Luigina Spaccini, Agnese Scatigno, Serena Gasperini, Laura Pezzoli, Anna Cereda, Donatella Milani, Elisa Cattaneo, Ugo Cavallari, Marco Frigeni, Daniela Marchetti, Cecilia Daolio, Laura Giordano, Matteo Bellini, Lucrezia Goisis, Chiara Mongodi, Davide Tonduti, Alba Pilotta, Giovanni Cazzaniga, Francesca Furlan, Maria Francesca Bedeschi, Giovanna Mangili, Ezio Bonanomi, Maria Iascone   +26 more
wiley   +1 more source

A retrospective analysis of 38,652 amniotic fluid karyotype. [PDF]

Front Genet
Ren J, Guan X, Lv W, Yan Y, Si Y, Yang S, Yin C.   +6 more
europepmc   +1 more source

Personalized care for patients with EGFR‐mutant nonsmall cell lung cancer: Navigating early to advanced disease management

CA: A Cancer Journal for Clinicians, Volume 75, Issue 5, Page 387-409, September/October 2025.
Abstract The discovery of activating mutations in the epidermal growth factor receptor (EGFR) gene has revolutionized the management of lung cancer, enabling the development of targeted tyrosine kinase inhibitors (TKIs). These therapies offer improved survival and reduced side effects compared with conventional treatments.
Maxime Borgeaud, Timothée Olivier, Jair Bar, Stephanie Pei Li Saw, Kaushal Parikh, Giuseppe Luigi Banna, Claudio De Vito, Jill Feldman, Xiuning Le, Alfredo Addeo   +9 more
wiley   +1 more source

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy. [PDF]

Calcif Tissue Int
Lim WT, Nenke M, Rawlings L, Wells A, Vakulin C, Waters W, De Sousa S.   +6 more
europepmc   +1 more source