Results 61 to 70 of about 124,374 (336)

Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

BioTechniques, 2015
Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores.
T. Potapova, J. Unruh, A. Box, W. Bradford, C. Seidel, Brian D. Slaughter, Shamilene Sivagnanam, Yuping Wu, Rong Li   +8 more
semanticscholar   +1 more source

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower‐Risk Myelodysplastic Syndromes (LR‐MDS) in the COMMANDS Study

American Journal of Hematology, EarlyView.
ABSTRACT The COMMANDS trial established luspatercept as a first‐line treatment for anemia in transfusion‐dependent lower‐risk (LR) myelodysplastic syndromes (MDS). Here we report red blood cell (RBC) transfusion response analysis based on somatic mutations profile and disease risk for patients treated with luspatercept or epoetin alfa in the COMMANDS ...
Rami S. Komrokji, Sheida Hayati, Manuel Ugidos, Guillermo Garcia‐Manero, Matteo Giovanni Della Porta, Amer M. Zeidan, Valeria Santini, Uwe Platzbecker, Anita K. Gandhi, Rajasekhar N. V. S. Suragani   +9 more
wiley   +1 more source

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

Balkan Journal of Medical Genetics, 2015
Emanuel syndrome (ES) is a rare chromosomal disorder that is characterized by multiple congenital anomalies and developmental disabilities. Affected children are usually identified in the newborn period as the offspring of balanced (11;22) translocation ...
İkbal Atli E, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H   +4 more
doaj   +1 more source

Clinical significance of phenotyping and karyotyping of circulating tumor cells in patients with advanced gastric cancer

OncoTarget, 2014
BACKGROUND Karyotyping and phenotyping of circulating tumor cells (CTCs) in therapeutic cancer patients is of particular clinical significance in terms of both identifying chemo-resistant CTC subtypes and understanding CTC evolution.
Yilin Li, Xiaotian Zhang, S. Ge, Jing Gao, J. Gong, Ming Lu, Qiyue Zhang, Yanshuo Cao, D. Wang, P. Lin, L. Shen   +10 more
semanticscholar   +1 more source

Hetrombopag Added to Cyclosporine as the First‐Line Treatment for Patients With Non‐Severe Aplastic Anemia: A Phase 2 Multicenter Trial

American Journal of Hematology, EarlyView.
ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang, Ruonan Li, Qian Liang, Weiwang Li, Hong Pan, Zhen Gao, Liwei Fang, Jingyu Zhao, Xiao Yu, Zhexiang Kuang, Neng Nie, Jianping Li, Jinbo Huang, Xin Zhao, Meili Ge, Yizhou Zheng, Jun Li, Hong Zhang, Jun Shi   +18 more
wiley   +1 more source

Rescue karyotyping: a case series of array-based comparative genomic hybridization evaluation of archival conceptual tissue

Reproductive Biology and Endocrinology, 2014
BackgroundDetermination of fetal aneuploidy is central to evaluation of recurrent pregnancy loss (RPL). However, obtaining this information at the time of a miscarriage is not always possible or may not have been ordered.
R. Kudesia, Marilyn M. Li, Janice L. Smith, Ankita Patel, Zev Williams   +4 more
semanticscholar   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotyping [PDF]

, 2022
Takema Kato, Shunsuke Miyai, Hideki Suzuki, Yuuri Murase, Shiyo Ota, Hiroko Yamauchi, Michiko Ammae, Tatsuya Nakano, Yoshiharu Nakaoka, Tomoko Inoue, Yoshiharu Morimoto, Aisaku Fukuda, Takafumi Utsunomiya, Haruki Nishizawa, Hiroki Kurahashi   +14 more
openalex   +1 more source

Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

PLoS ONE, 2014
Objective To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Methods Array CGH was performed on 220 samples recruited prospectively as the first-tier test study.
A. Kan, A. Kan, E. Lau, E. Lau, W. Tang, S-Y Chan, Simon C. K. Ding, Kelvin Y. K. Chan, Kelvin Y. K. Chan, Chin-peng Lee, Chin-peng Lee, P. Hui, P. Hui, B. Chung, B. H. Chung, Kwok-fai Leung, T. Ma, W. Leung, M. Tang, M. Tang   +19 more
semanticscholar   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source