Results 141 to 150 of about 218,782 (270)
Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion [PDF]
, 2000 Susana Egozcue
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
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American Journal of Hematology, EarlyView.ABSTRACT With the recent publication of new classification systems of hematopoietic neoplasms, understanding how recognition of disease entities has occurred over time and the subsequent development of formal disease classifications is of importance. This review focuses on the early recognition of myeloid disorders, especially chronic myeloid disorders,
Daniel A. Arber, Attilio Orazi
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Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders [PDF]
, 2000 Yonggang Ji +3 more
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American Journal of Hematology, EarlyView.ABSTRACT Allogeneic hematopoietic stem‐cell transplantation (HCT) remains the only potentially curative therapy for patients with myelodysplastic neoplasms (MDS) and myelofibrosis (MF) and is the standard care for eligible patients with higher‐risk disease. Despite significant advancements, both diseases pose unique challenges due to their clinical and
Nico Gagelmann, Nicolaus Kröger
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Frequency of Chromosome Disorders In Patients with Sperm Number Anomaly
Gazi Medical JournalObjective: Chromosome abnormalities play an important role in male infertility. The rate of chromosome disorders in infertile men is higher as 5.8% when compared to the normal population (0.5%).
Mehmet Niyaz +2 more
doaj +1 more source
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 [PDF]
, 2000 Enza Maria Valente
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Clonal Hematopoiesis and Thrombosis
American Journal of Hematology, EarlyView.ABSTRACT Clonal hematopoiesis (CH) has been the focus of many research efforts in the last years and has emerged as a risk modifier for cardiovascular disease morbidity and mortality. While substantial evidence has accumulated regarding its impact on arterial system diseases, the connection with venous thrombosis has only recently been explored.
Cornelia Englisch, Cihan Ay
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Advances in the pathogenesis of Rett syndrome using cell models
Animal Models and Experimental Medicine, Volume 5, Issue 6, Page 532-541, December 2022., 2022 Most Rett syndrome (RTT) patients are affected by the MECP2 gene mutations. And the mutations of MECP2 have wide effects on different cell types of nervous system, including neurons, astrocytes, oligodendrocytes and microglia, which always combined together to lead to abnormalities in the whole neural network.
Sijia Lu, Yongchang Chen, Zhengbo Wang
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