Results 211 to 220 of about 49,778 (305)

Spectrum and Clinical Reproductive Significance of Cytogenetic Abnormalities in Infertility and Recurrent Early Pregnancy Loss: A Five-Year Retrospective Study of 10,285 Cases. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

LPCAT3 as a Potential Drug Target for Ultraviolet Radiation–Induced Cataract: Insights From Multiomics Analysis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Ultraviolet B (UVB) radiation is a major risk factor for cataract development, but the molecular mechanisms underlying this process, particularly the involvement of regulated cell death pathways such as ferroptosis, remain unclear. Transcriptomic, proteomic, and metabolomic analyses were performed on lens tissues from UVB‐induced cataract rat ...
Fei Xu, Xiao‐Bo Wan, Yong‐Shun Liang, Tian Lan, Hao Liang   +4 more
wiley   +1 more source

Comparative Cytogenetic Study of Y Chromosomes in <i>Bovidae</i>: Insights from Morphological Analysis of European Bison, American Bison, and Domestic Cattle. [PDF]

Animals (Basel)
Kloch M, Perlińska-Teresiak M, Wojciechowska M, Jazowska J, Olech W.   +4 more
europepmc   +1 more source

Quinacrine Bands in Isolated Chromosomes

CYTOLOGIA, 1976
W, Wray, K, Stefos
openaire   +3 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Comparative cytogenetics of the <i>Physalaemus gracilis</i> group (Anura, Leptodactylidae) with characterization of the karyotype of <i>Physalaemus evangelistai</i> Bokermann, 1967. [PDF]

Comp Cytogenet
Mosquini PHP, Souza LHB, Ferro JM, Lourenço LB.   +3 more
europepmc   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source