Results 121 to 130 of about 78,018 (293)

Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Background Klinefelter's syndrome (KS; 47, XXY) is associated with an altered risk profile for malignancies compared with non‐KS males. In particular, several reports have noted a striking association between KS and extragonadal germ cell tumours (EGCTs), especially in the mediastinum, whereas the risk of testicular germ cell tumours (TGCTs ...
Aksh Tailor, Oishee Bandyopadhyay, Nahian Ahmed, Kapishan Shanmugathasan, Alice Cotton, ChingHao Chen, Tet Yap   +6 more
wiley   +1 more source

Incorporating automation in a cytogenetics laboratory: three practitioners’ perspectives on benefits and limitations

Molecular Cytogenetics
Automation has been developed and continues to be refined for cytogenetics, including advances in the processing of samples, in analysis of conventional chromosome and fluorescence in situ hybridization (FISH) testing, and with artificial intelligence ...
Cecelia Miller, Jennie Thurston, Ninette Cohen   +2 more
doaj   +1 more source

Comparative cancer cytogenetics

, 2011
Nicole E. McNeil, Cristina Montagna, MJ Difilippantonio, Thomas Ried   +3 more
openalex   +2 more sources

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Optical genome mapping detects cryptic high‐risk and targetable abnormalities in adult AML

British Journal of Haematology, EarlyView.
Summary Acute myeloid leukaemia (AML) risk stratification relies on cytogenetic and molecular abnormalities defined by European LeukemiaNet (ELN) 2022. Conventional cytogenetic techniques, including chromosomal banding analysis (CBA) and fluorescence in situ hybridization, have limited resolution and may miss cryptic events. Optical genome mapping (OGM)
Audrey Bidet, Elodie Laharanne, Manon Dos Santos, Anne‐Charlotte De Grande, Thibaut Leguay, Arnaud Pigneux, Eric Frison, Sandrine Achard, Stéphanie Dupont‐Moufakkir, Emilie Klein, Pierre‐Yves Dumas   +10 more
wiley   +1 more source

O55: Evaluation of a large cohort of spontaneous pregnancy losses: Intriguing findings from both chromosome and microarray studies

Genetics in Medicine Open
Stuart Schwartz, Alexandra Arreola, Inder Gadi, Gloria Haskell, Bing Huang, Judith Knops, Zach Ou, Andrea Penton, Karen Phillips, Amanda Sussman, James Tepperberg   +10 more
doaj   +1 more source

Assessing Cytogenetic Abnormalities in Myeloma: A Comparative Study of Hi-C, Karyotyping, and iFISH Techniques [PDF]

Jing Li, Yang Yang, Chenqi Yu, Yuxia Yang, Peng Liu   +4 more
openalex   +1 more source

Biology and clinical significance of cytogenetic abnormalities in childhood acute lymphoblastic leukemia [PDF]

, 1990
CH Pui, W M Crist, A. Thomas Look
openalex   +1 more source

Circulating tumour cells (CTCs) in haematological malignancies: Advances in biology and clinical relevance with a focus on multiple myeloma

British Journal of Haematology, EarlyView.
Spatial heterogeneity limits the sensitivity of bone marrow biopsies, resulting in false‐negative findings. Circulating tumour cells (CTCs) provide a systemic, stratified monitoring approach, using flow cytometry for high tumour burden and EuroFlow or allele‐specific oligonucleotide PCR (ASO‐PCR) for minimal residual disease to enable early relapse ...
Chin‐Mu Hsu, Jui‐Feng Hsu, Jee‐Fu Huang, Yi‐Chang Liu   +3 more
wiley   +1 more source

P592: Cytogenetic and microarray analysis of prenatally detected congenital heart defects (CHD): Diagnostic findings and variation among CHD subtypes

Genetics in Medicine Open
Stuart Schwartz, Alexandra Arreola, Inder Gadi, Gloria Haskell, Bing Huang, Judith Knops, Andrea Penton, Karen Phillips   +7 more
doaj   +1 more source