Results 301 to 310 of about 117,673 (373)

False Positive or False Negative—An Interesting Case in Prenatal Diagnostic Laboratory

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
A prenatal case in which discordant results were identified among SNP‐Array, PNBoBs, conventional karyotyping, and FISH, highlighting the importance of recognizing the limitations of various testing techniques for clinicians to avoid misdiagnosis and missed diagnosis.
Pingping Zhang   +5 more
wiley   +1 more source

A genome-wide RNAi screen for novel CIN genes using human artificial chromosome. [PDF]

open access: yesPNAS Nexus
Liskovykh M   +13 more
europepmc   +1 more source

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment GeneCHAMP1Cause Syndromic Intellectual Disability

open access: green, 2016
Bertrand Isidor   +35 more
openalex   +2 more sources

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
Prenatal 7q11.23 CNVs exhibit 100% ultrasound anomalies in deletions (cardiovascular defects, growth restriction) and 50% in duplications. Inherited CNVs (50% deletions, 43% duplications) correlate with milder outcomes, while de novo variants drive high TOP rates (76.5%), emphasizing genomic testing and parental studies for precise counseling. ABSTRACT
Jiong Yan, Ziyang Liu, Song Yi, Nian Liu
wiley   +1 more source

Centromeres in the thermotolerant yeast K. marxianus mediate attachment to a single microtubule. [PDF]

open access: yesChromosome Res
Barrero DJ   +6 more
europepmc   +1 more source

Structural basis of product recognition by Mycobacterium tuberculosis fatty acid synthase

open access: yesProtein Science, Volume 35, Issue 1, January 2026.
Abstract Microbial iterative fatty acid synthases (FAS) are versatile multienzymes under scrutiny for their potential as anti‐infectious targets and their biotechnological applications. They produce saturated fatty acids with defined chain length and release them as coenzyme A‐conjugates.
Elnaz Khalili Samani   +4 more
wiley   +1 more source

Centromeres drive and take a break. [PDF]

open access: yesChromosome Res
Talbert PB, Henikoff S.
europepmc   +1 more source

Isolated Anti‐SS‐A Antibody Seropositivity as a Poor Prognostic Factor in Systemic Sclerosis: Insights From a Cohort of 307 Cases

open access: yesThe Journal of Dermatology, Volume 53, Issue 1, Page 41-53, January 2026.
ABSTRACT Systemic sclerosis is an autoimmune disease characterized by vasculopathy, fibrosis, and immune dysregulation. Anti‐SS‐A antibodies (anti‐SSA) have been reported to confer severe clinical manifestations in some Western and Japanese cohorts. We aimed to determine whether anti‐SSA seropositivity affects clinical outcomes in Japanese patients. We
Nana Ishida   +4 more
wiley   +1 more source

Insects evolved a monomeric histone-fold domain in the CENP-T protein family. [PDF]

open access: yesEMBO Rep
Sankaranarayanan SR   +5 more
europepmc   +1 more source

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