Results 161 to 170 of about 18,587 (264)

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Pervasive chromosomal instability drives the karyotypic evolution of hypodiploid tumours. [PDF]

Genome Med
Loughran E, McLysaght A, Ní Leathlobhair M.   +2 more
europepmc   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg, May Shabat, Maya Stok, Vered Offer Glasner, Adi Botvinik, Mordechai Shohat, Michal Levy, Yuval Yaron, Roee Birnbaum, Sharon Perlman, Gustavo Malinger, Karina Krajden Haratz   +11 more
wiley   +1 more source

Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics. [PDF]

Cancer Genomics Proteomics
Panagopoulos I.
europepmc   +1 more source

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov   +6 more
wiley   +1 more source

Altered genome induced immune response of iPSCs. [PDF]

Front Immunol
Requena Osete J, Álvarez Palomo B, Edel MJ.   +2 more
europepmc   +1 more source

Epigenetic Regulation of Liver Fibrosis: Mechanisms and Therapeutic Implications

Portal Hypertension &Cirrhosis, EarlyView.
This review synthesizes the epigenetic mechanisms—DNA methylation, histone modifications, and non‐coding RNAs—that drive hepatic stellate cell activation and the progression of liver fibrosis. It further evaluates emerging therapeutic strategies targeting these epigenetic regulators, including DNA methyltransferase and histone deacetylase inhibitors ...
Maryam Jadid Tavaf, Mahboobeh Ebrahimi Varkiani, Saeid Abroun, Pedram Asadi‐Sarabi, Shukoofeh Torabi, Elham Rismani, Mohammad Majd Hammour, Andreas K. Nüssler, Massoud Vosough   +8 more
wiley   +1 more source

Intersection of systemic lupus erythematosus and autoimmune thyroid disease: Shared pathophysiology, epidemiology, diagnosis, and management

Rheumatology &Autoimmunity, EarlyView.
A proposed mechanistic framework of systemic lupus erythematosus (SLE) and autoimmune thyroid disease (AITD) pathogenesis. In Stage 1, genetically susceptible individuals harbor risk variants within major histocompatibility complex (HLA) and non‐HLA loci that impair central and peripheral immune tolerance mechanisms within the thymic and peripheral ...
Elisa Elisa, Awalia Awalia, Deasy Ardiany, Henry Sutanto   +3 more
wiley   +1 more source

Genome near-haploidization in CDC73-wildtype parathyroid tumors. [PDF]

Sci Rep
Jentus MM, Cetani F, Snel M, van Haalen FM, Ruano D, Appelman-Dijkstra NM, Schepers A, Crobach S, Marcocci C, Torregrossa L, Morreau H.   +10 more
europepmc   +1 more source