Results 101 to 110 of about 85,626 (243)

A case of pervasive developmental disorder with chromosomal translocation 1-4 [PDF]

, 2007
Luciana G. Tarelho, Francisco Baptista Assumpção   +1 more
openalex   +1 more source

Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas [PDF]

, 2022
Göran Stenman, André Fehr, Alena Skálová, Vincent Vander Poorten, Henrik Hellquist, Lauge Hjorth Mikkelsen, Nabil F. Saba, Orlando Guntinas‐Lichius, Carlos M. Chiesa‐Estomba, Mattias K. Andersson, Alfio Ferlito   +10 more
openalex   +1 more source

Single‐Cell Morphomechanics of Prostate Cancer‐Associated Fibroblasts Identifies Distinct Features Associated with Patient Outcome

Advanced Science, EarlyView.
Cancer‐associated fibroblasts (CAFs) in prostate tumors exhibit distinct morphomechanical traits vs normal fibroblasts, including greater stiffness and volume, more elongated stress fibres, and larger and more elongated nuclei. These features, quantified through imaging and real‐time deformability cytometry, correlate with patient outcomes and can be ...
Antje Garside, Angela Jacobi, Shivakumar Keerthikumar, Vaibhav Mahajan, Michelle Richards, Birunthi Niranjan, Linda Teng, Nicholas Choo, Johannes Low Jun Wei, Gail P Risbridger, Mitchell G Lawrence, Anna V. Taubenberger   +11 more
wiley   +1 more source

The prevalence of chromosomal translocation t (1; 4) (p21; p14) in Iranian patients with mental disability

Journal of Basic Research in Medical Sciences, 2017
Introduction: Intellectual disability or intellectual retardation is a condition in which total mental functioning is distinctively below average and there are disabilities in adaptive behaviors during growth.
Pegah Vosoughi, Fatemeh Keshavarzi, Parviz Ashtari   +2 more
doaj  

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report. [PDF]

Mol Cytogenet, 2022
Gaviria A, Cadena-Ullauri S, Cevallos F, Guevara-Ramirez P, Ruiz-Pozo V, Tamayo-Trujillo R, Paz-Cruz E, Zambrano AK.   +7 more
europepmc   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report. [PDF]

J Reprod Infertil, 2021
Chakraborty A, Palo I, Roy S, Koh SW, Hande MP, Banerjee B.   +5 more
europepmc   +1 more source

Corrigendum: Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing. [PDF]

Front Endocrinol (Lausanne), 2021
Song H, Shi H, Yang ET, Bu ZQ, Jin ZQ, Huo MZ, Zhang YL.   +6 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

AID Produces DNA Double-Strand Breaks in Non-Ig Genes and Mature B Cell Lymphomas with Reciprocal Chromosome Translocations [PDF]

, 2009
Davide F. Robbiani, Samuel F. Bunting, Niklas Feldhahn, Anne Bothmer, Jordi Camps, Stephanie Deroubaix, Kevin M. McBride, Isaac A. Klein, Gary Stone, Thomas Eisenreich, Thomas Ried, André Nussenzweig, Michel C. Nussenzweig   +12 more
openalex   +1 more source