Results 181 to 190 of about 2,442,331 (340)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age. [PDF]

Obstet Gynecol Sci, 2018
Kim SM, Kim HH, Han YJ, Choi JS, Ryu HM, Yang S, Kim MH.   +6 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Case report: CD8 positive T-cell Prolymphocytic Leukemia presenting complex karyotype with a rare chromosomal abnormality der(2)t(1;2)(q21;q37) and additional signals of the genes MYC, IGH, and TP53. [PDF]

Hematol Transfus Cell Ther
Jamur VR, Lisboa MO, Azambuja AP, Brofman PRS.   +3 more
europepmc   +1 more source

Trisomy 4, a new chromosomal abnormality in Waldenström's macroglobulinemia: a study of 39 cases

Leukemia, 2006
C. Terré, F. Nguyen‐Khac, C. Barin, M. Mozziconacci, V. Eclache, C. Léonard, E. Chapiro, H. Farhat, A. Bouyon, P. Rousselot, S. Choquet, M. Spentchian, Patrice Dubreuil, V. Leblond, S. Castaigne   +14 more
semanticscholar   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Coexisting of bone marrow fibrosis, dysplasia and an X chromosomal abnormality in chronic neutrophilic leukemia with CSF3R mutation: a case report and literature review. [PDF]

BMC Cancer, 2018
Wu XB, Wu WW, Zhou Y, Wang X, Li J, Yu Y.   +5 more
europepmc   +1 more source

Mapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice

Animal Models and Experimental Medicine, EarlyView.
Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi   +7 more
wiley   +1 more source

Integrated Epstein‐Barr virus (EBV) and chromosomal abnormality in chronic active EBV infection

International Journal of Cancer, 1997
K. Ohshima, J. Suzumiya, S. Ohga, A. Ohgami, M. Kikuchi   +4 more
semanticscholar   +1 more source

Metabolic and biochemical profiling reveals phenotypic heterogeneity in Zucker diabetic fatty rats

Animal Models and Experimental Medicine, EarlyView.
Genetically uniform Zucker Diabetic Fatty (ZDF) rats spontaneously develop four distinct metabolic phenotypes despite identical housing and diet conditions. Each phenotype exhibits unique biomarker signatures encompassing glucose homeostasis, insulin secretion, polyol pathway activation, oxidative stress, inflammatory cytokines, and neurotrophic ...
Marek Lepáček, Pavol Boďo, Barbora Kaločayová, Marta Šoltésová Prnová   +3 more
wiley   +1 more source