Results 181 to 190 of about 85,080 (296)

Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation. [PDF]

Diagnostics (Basel)
Villa N, Redaelli S, Farina S, Sala E, Crosti F, Cozzolino S, Verderio M, Dalprà L, Roversi G, Bentivegna A, Cazzaniga G, Lavitrano M, Conconi D.   +12 more
europepmc   +1 more source

Drivers of human attitudes towards wolves Canis lupus in Kazakhstan

People and Nature, EarlyView.
Abstract Kazakhstan is recognized as a key stronghold for the grey wolf (Canis lupus). Nonetheless, the wolf status and the dynamics of human‐wolf coexistence in the region remain poorly understood. This study aims to fill that gap by exploring current attitudes towards wolves in Kazakhstan and identify the underlying drivers of these attitudes.
Alyona Koshkina, Svitlana Kudrenko, Andrés Ordiz, Saltanat Kamiyeva, Adam Devenish, Johannes Kamp   +5 more
wiley   +1 more source

Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation. [PDF]

Genes (Basel)
Lederbogen RC, Hoffjan S, Thiels C, Mau-Holzmann UA, Singer S, Yusenko MV, Nguyen HHP, Gerding WM.   +7 more
europepmc   +1 more source

Living with tigers: Perceptions of risk, equity, and cultural change amidst tiger attacks in a reserve's buffer zone

People and Nature, EarlyView.
Abstract Large carnivores are widely promoted as flagship species in biodiversity conservation, yet, in high‐density landscapes they generate risks to human lives and livelihoods that are unevenly distributed. Understanding how coexistence is sustained under such conditions raises questions of governance, equity, and whose costs are normalized.
Ashraf Shaikh, Kulbhushansingh Suryawanshi   +1 more
wiley   +1 more source

Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis. [PDF]

Genes (Basel)
Ardisia C, De Falco L, Savarese G, Ruggiero R, Suero T, Petrillo N, Ianniello M, Sirica R, Mori A, Cino D, Barbato M, Vitiello G, Fico A.   +12 more
europepmc   +1 more source

Two whole arm reciprocal translocations. [PDF]

Journal of Medical Genetics, 1988
A, Smith, R, Murray, G, den Dulk
openaire   +2 more sources

Clinicopathological characteristics of patients with inoperable non‐small cell lung cancer harboring circulating NRF2 pathway mutations

The Journal of Pathology, EarlyView.
Abstract Lung cancer is the leading cause of global cancer‐related morbidity and mortality, with tobacco smoking as its strongest risk factor. Nuclear factor erythroid 2‐related factor 2 (NRF2) is a redox‐regulated transcription factor frequently dysregulated in non‐small cell lung cancer (NSCLC), leading to aggressive disease and resistance to therapy.
Jouni Härkönen, Satu Tiainen, Jouni Kujala, Linnea Muhonen, Ponnuswamy Mohanasundaram, Tuomas Tikkanen, Ina Pöhner, Tommi Patinen, Simone Adinolfi, Juha P Väyrynen, Päivi Auvinen, Arto Mannermaa, Petri Pölönen, Tuomas Rauramaa, Anna‐Liisa Levonen   +14 more
wiley   +1 more source

Assessment of quadrivalent characteristics influencing chromosome segregation by analyzing human preimplantation embryos from reciprocal translocation carriers. [PDF]

Comp Cytogenet
Tonyan ZN, Puppo IL, Saifitdinova AF, Vavilova TV, Glotov AS.   +4 more
europepmc   +1 more source

Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation. [PDF]

J Assist Reprod Genet, 2020
Wang Y, Zhu X, Yan Z, Zhi X, Guan S, Kuo Y, Nie Y, Lian Y, Huang J, Wei Y, Liu P, Li R, Qiao J, Yan L.   +13 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source