Results 191 to 200 of about 105,581 (338)

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy‐Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B‐Cell Precursor Acute Lymphoblastic Leukemia

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) is a prevalent pediatric hematologic malignancy characterized by diverse chromosomal aberrations that significantly influence its prognosis. This study aimed to comprehensively characterize the genomic landscape of childhood BCP‐ALL in a cohort of 55 Malaysian patients.
Nor Soleha Mohd Dali   +12 more
wiley   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

open access: yesAppl Clin Genet
Wysocka U   +9 more
europepmc   +1 more source

Premature chromosome condensation in a child with trisomy 21. [PDF]

open access: bronze, 1992
Karthik S. Prabhakara   +2 more
openalex   +1 more source

Trisomy 12 chronic lymphocytic leukemia cells exhibit upregulation of integrin signaling that is modulated by NOTCH1 mutations.

open access: yesBlood, 2014
J. Riches   +11 more
semanticscholar   +1 more source

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
CfDNA screening effectively detected SCAs often undetected by routine prenatal ultrasound. Maternal SCAs showed rare fetal transmission. ABSTRACT Introduction To assess the clinical efficacy of prenatal cfDNA screening for detecting sex chromosome aneuploidies (SCAs).
Ying Lin   +8 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

open access: yesCase Rep Genet
Abdelhamed Z   +10 more
europepmc   +1 more source

Sex Ratios at Birth Following Non‐Invasive Prenatal Testing in Victoria, Australia

open access: yesPrenatal Diagnosis, Volume 46, Issue 3, Page 406-416, March 2026.
ABSTRACT Objective Non‐invasive prenatal testing (NIPT) can determine fetal chromosomal sex early in pregnancy, raising the possibility of sex selection. However, current evidence regarding this practice is limited. Our objective was to assess the sex ratio at birth (SRB) among a cohort of infants born following NIPT from a single laboratory provider ...
Hilary Bowman‐Smart   +6 more
wiley   +1 more source

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