Results 221 to 230 of about 455,442 (295)

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia. [PDF]

J Pathol
Bekő A, Péterffy B, Hughes A, Jakab JS, Haltrich I, Árvai KB, Bedics G, Csonka K, Papp G, Kapczár D, Bohusné Barta BA, Hegyi LL, Szalóki G, Barna G, Matolcsy A, Egyed B, Hevessy Z, Benard-Slagter A, Palit S, Savola S, Bödör C, Alpár D.   +21 more
europepmc   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Somatic Mitochondrial-Nuclear DNA Transfer in Lymphoproliferative Disorders. [PDF]

EJHaem
Stewart JP, Darzentas N, Alcoceba M, Sarasquete ME, Moorman AV, Catherwood M, Regmi B, Pott C, Langerak AW, Gonzalez D.   +9 more
europepmc   +1 more source

ICSH Guidance on Bone Marrow Examination and Reporting

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Examination of the bone marrow (BM) remains fundamental to the diagnosis, classification, prognostication, and monitoring of hematolymphoid and other disorders affecting blood cell production. Since publication of the International Council for Standardization in Haematology (ICSH) guideline in 2008, advances in diagnostic technologies, disease
Wendy N. Erber, Alexandar Tzankov, Olga Pozdnyakova, Hiromichi Matsushita, Gina Zini, Leonie Saft, on behalf of the International Council for Standardization in Haematology   +6 more
wiley   +1 more source

CHITRA: an interactive visualization tool for comparative genomic rearrangement analysis. [PDF]

Bioinform Adv
Pruthi P, Bhatia A, Agarwal P, Shukla N, Rani L, Narayan J.   +5 more
europepmc   +1 more source

Genome assembly of Elcysma westwoodi provides insights into host‐plant cyanogenic glucoside detoxification and chemical defence gene evolution

Insect Molecular Biology, EarlyView.
A chromosome‐level genome of Elcysma westwoodi was assembled. The genome encodes 272 detoxification‐related genes. A single‐copy bCAS was retained for cyanide detoxification. CYP405A and CYP332A were recruited into cyanogenic defence evolution. UGT33A retained a conserved GT‐B fold and catalytic domains.
Minyoung Choi, Murtaza Khan, Juil Kim
wiley   +1 more source

Genome dynamics and chromosome structural variations in Histoplasma ohiense, a fungal pathogen of humans. [PDF]

G3 (Bethesda)
Heater S, Voorhies M, Sil A.
europepmc   +1 more source

A single nucleotide polymorphism genotyping panel for efficient genetic stock identification of the Teno river Atlantic salmon (Salmo salar) population complex

Journal of Fish Biology, EarlyView.
Abstract A new single nucleotide polymorphism (SNP) panel for genetic stock identification in the Teno river Atlantic salmon, Salmo salar L., fishery was developed, with a view to improving on an existing microsatellite panel. Twenty‐two genetically differentiated reporting units were proposed based on population genetic analyses of 1212 individuals ...
Helena Johansson, Jaakko Erkinaro, Morten Falkegård, Anders Foldvik, Panu Orell, Craig R. Primmer, Victoria L. Pritchard   +6 more
wiley   +1 more source

Adaptation to extreme environments: A review of Antarctic fish physiology

Journal of Fish Biology, EarlyView.
Abstract Having evolved in the chronically cold and thermally stable waters of the Southern Ocean (SO) for millions of years, Antarctic fish possess a suite of physiological specializations that enable them to survive at temperatures near the freezing point of seawater. Adaptations include the evolution of antifreeze proteins, modifications of membrane
Seungyeon Lee, Sachithra Amarin Hettiarachchi, Il‐Chan Kim, Jae‐Seong Lee, Thomas Desvignes, Julia M. York, Laura Ghigliotti, Jilda Alicia Caccavo, Jin‐Hyoung Kim   +8 more
wiley   +1 more source

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report. [PDF]

Clin Case Rep
Zhou D, Lian W, Wang H, Huang R, Deng J, Jiao S, Zhou Q.   +6 more
europepmc   +1 more source