Results 61 to 70 of about 10,428 (253)

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Impact of donor mare and stallion identity on the likelihood of pregnancy after transfer of in vitro produced embryos

Equine Veterinary Journal, EarlyView.
Abstract Background The success of in vitro embryo production (IVEP) is influenced by donor mare and stallion. Objectives To determine whether donor mare and stallion influence the pregnancy rate after transfer of in vitro produced (IVP) blastocysts and to identify factors influencing the likelihood of obtaining one or more pregnancies from a single ...
M. Papas, T. A. E. Stout, J. C. M. Vernooij, B. Leemans, L. Arnold, M. M. Beitsma, L. I. Wijnands, M. de Ruijter‐Villani, S. Colleoni, G. Lazzari, C. Galli, A. Claes   +11 more
wiley   +1 more source

Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies

Molecular Cytogenetics, 2019
Background Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SCAs) during recent years, but few ...
Ying Xue, Guodong Zhao, Hong Li, Qin Zhang, Jiafeng Lu, Bin Yu, Ting Wang   +6 more
doaj   +1 more source

Lymphocyte Micronucleus Formation Is Driven by Inflammation‐Induced Oxidative DNA Damage in Oesophageal Cancer Development

International Journal of Cancer, EarlyView.
Chromosomal instability is a hallmark of cancer, but minimally invasive ways to detect systemic DNA damage and cancer risk remain limited. Here, using patient blood samples, the authors investigated lymphocyte micronuclei (MN) frequency as a potential marker of DNA damage across the progression from gastroesophageal reflux disease to Barrett's ...
Kathryn Munn, Rachel Lawrence, Hasan Haboubi, Hamsa Naser, Kate Hurlow, Ume‐Kulsoom Shah, Lisa Williams, Sarah Gwynne, Owen Bodger, Jiri Zavadil, Francois Virard, Shareen Doak, Laura E. Thomas, Gareth Jenkins   +13 more
wiley   +1 more source

Variation in the Incidence and Type of Full versus Mosaic Segmental Aneuploidies Identified in Blastocysts Undergoing PGT-A

Fertility & Reproduction
Objectives: The primary aim of this study was to investigate the incidence of segmental aneuploidies (full vs. mosaic) in embryos biopsied for Preimplantation Genetic Testing with Aneuploidy (PGT-A) screening using low-coverage whole genome sequencing ...
Carly Cuman, Mark P. Green, Elissa Willats, Tristan Hardy, Deirdre Zander-Fox   +4 more
doaj   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

Optimizing outcomes in intrauterine insemination: A narrative synthesis of two decades of clinical research (2000–2024)

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Intrauterine insemination (IUI) is a widely used first‐line fertility treatment, yet its success rates vary considerably. This review synthesizes evidence from peer‐reviewed studies published between 2000 and 2024, including randomized controlled trials, cohort and case–control studies, as well as systematic and narrative reviews identified ...
Kasuni Akalanka
wiley   +1 more source

Aneuploidy in the Transgenic Rabbit

Folia Biologica, 2004
The aim of this study was to determine whether there are differences in the karyotypes between transgenic and non-transgenic or control rabbits. New Zealand White transgenic rabbits (F1 generation) were obtained after breeding of transgenic founder rabbits that were derived from single ñ SM ñ or double microinjection DM with a
V, Parkányi, P, Chrenek, J, Rafay, K, Süvegová, R, Jurcík, A V, Makarevich, J, Pivko, L, Hetényi, R K, Paleyanda   +8 more
openaire   +2 more sources

Total cervical occlusion: A solution after cervico‐isthmic cerclage failure

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective Spontaneous preterm birth is mainly caused by cervical incompetence. Cervical cerclage is the gold standard for preventing mid‐trimester losses and preterm deliveries. If cervical cerclage fails, cervico‐isthmic cerclage may be indicated.
Déborah Couet, Anne‐Gaëlle Pourcelot, Claire Szmulevicz, Perrine Capmas, Hervé Fernandez, Élodie Debras   +5 more
wiley   +1 more source

Toxic Effects of Bisphenol A and Its Analogs on Ovarian Structure and Function: A Narrative Review of Ovary‐Focused Studies

Journal of Applied Toxicology, EarlyView.
ABSTRACT Bisphenol A (BPA) is a widely used industrial chemical found in polycarbonate plastics and epoxy resins and is recognized for its endocrine‐disrupting properties. Human exposure is common due to its presence in food packaging and everyday products. As BPA use has been restricted, structurally similar compounds such as BPS, BPB, BPAF, and BADGE
Nurbanu Zengin, Marwa Tawfıq Ahmed Alsalım, Muhammed Canik, Sevda Bağdatlı, Nazan Deniz Yön   +4 more
wiley   +1 more source