Results 91 to 100 of about 129,688 (299)

Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child

JPGN Reports, EarlyView.
Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source

Clinical and Molecular Features of BAP1‐Mutated Meningiomas: Case Series

Molecular Carcinogenesis, EarlyView.
ABSTRACT BRCA1‐associated protein 1 (BAP1)‐deficient meningiomas represent a clinically and molecularly distinct subgroup with variable histology and aggressive behavior that may not be fully captured by current grading criteria. The clinical spectrum of BAP1 alterations in meningiomas, including both somatic and germline contexts, remains incompletely
Ivan Pradilla, Rasha Alfattal, Susan L. McGovern, Shaan M. Raza, Franco DeMonte, Leomar Y. Ballester, Chirag B. Patel, Carlos Kamiya‐Matsuoka   +7 more
wiley   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

Identification and characterization of Capsicum mutants using, biochemical, physiological, and single sequence repeat (SSR) markers

Journal of Genetic Engineering and Biotechnology
Identification and characterization of crop mutants through molecular marker analysis are imperious to develop desirable traits in mutation breeding programs.
Nazarul Hasan, Sana Choudhary, Neha Naaz, Nidhi Sharma, Shahabab Ahmad Farooqui, Megha Budakoti, Dinesh Chandra Joshi   +6 more
doaj   +1 more source

Bilateral Palmar Single Transverse Crease in an Infant Girl with Ring Chromosome 13 and Multiple Facial Anomalies: A Case Report [PDF]

Iranian Journal of Neonatology
Background: Ring chromosome 13 is a rare cytogenetic disorder resulting from breakage and reunion of the distal ends of the chromosomal arms. The incidence of this disorder is about 1 in 58,000 live births.
Mohammad Vasei, Alireza Biglari, Moeinadin Safavi, Leila Mousavi, Mahboobeh Chahkandi   +4 more
doaj   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

The Journal of Pathology, EarlyView.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár   +21 more
wiley   +1 more source

Cytogenetic anomalies in Multiple Myeloma patients:A single center study

Genetics & Applications, 2019
Conventional karyotyping in the patients with Multiple myeloma (MM) is very important. Because chromosomal abnormalities which detected in these patients have diagnostic and prognostic value.
Süreyya Bozkurt, Yahya Büyükaşık, Haluk Demiroğlu, Elifcan Aladağ Karakulak, Müfide Okay, Ayşe Karataş, Salih Aksu, İbrahim Haznedaroğlu, Nilgün Sayınalp, Osman Özcebe, Hakan Göker   +10 more
doaj  

Molecular cytogenetics of the California condor: evolutionary and conservation implications [PDF]

, 2009
Evolutionary cytogenetic comparisons involved 5 species of birds (California condor, chicken, zebra finch, collared flycatcher and black stork) belonging to divergent taxonomic orders.
Romanov, Michael N, Ryder, Oliver A, Modi, William S, Green, Eric D   +3 more
core   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Immunophenotypic Aberrancies in Acute Lymphoblastic Leukaemia: A Cross-sectional Study from a Tertiary Care Centre in Rajasthan, India

Journal of Clinical and Diagnostic Research
Introduction: Leukaemic cells display characteristic patterns of surface antigenic expression. Aberrant phenotypes are defined as patterns of antigen expression on neoplastic cells that deviate from the process of normal haematopoietic maturation.
Shikha Goyal, Manoj Sharma, Neha Sethi, Shweta Bansal, Maneesh K Vijay, Ram Mohan Jaiswal, Abha Mathur, Aditya Mundra   +7 more
doaj   +1 more source