Results 151 to 160 of about 73,620 (322)

Chromosomal Microarray Analysis and Karyotype Analysis for Prenatal Diagnosis of Fetuses With Abnormal Ultrasound Soft Markers

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Genetic detection of fetal specimens obtained by ultrasound‐guided puncture was carried out using karyotype analysis and chromosomal microarray analysis (CMA) in this study, and the detection rates of chromosomal abnormalities in different ultrasonic abnormalities were analyzed.
Lina Liu   +4 more
wiley   +1 more source

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

open access: yesClinical Genetics, Volume 103, Issue 2, Page 156-166, February 2023., 2023
Abstract CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major contribution of CNOT2 haploinsufficiency to ...
Marcello Niceta   +21 more
wiley   +1 more source

LncRNA TUSC7 Inhibits Cell Proliferation in Chronic Lymphocytic Leukemia by Modulating the miR‐211‐5p/SLC37A3 Axis

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Chronic lymphocytic leukemia (CLL) is a malignant lymphoproliferative disorder. Long non‐coding RNAs (lncRNAs) have been implicated in various regulatory processes and cancer development. Among these, lncRNA tumor suppressor candidate 7 (TUSC7) has been identified as a tumor suppressor gene.
Xu‐Li Wang, Jia Mei
wiley   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

open access: yesMovement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan   +4 more
wiley   +1 more source

Review of Lee Kass's “From Chromosomes to Mobile Genetic Elements: The Life and Work of Nobel Laureate Barbara McClintock”

open access: yesNatural Sciences, EarlyView.
Abstract From decades of research, Lee Kass has written a definitive biography of Nobel Laureate Barbara McClintock. Her life and work from birth to death are documented in great detail including the discovery of transposable elements and how this discovery was initially received and eventually accepted.
James A. Birchler
wiley   +1 more source

Venetoclax Alone or in Combination With Chemotherapy in Paediatric and Adolescent/Young Adult Patients With Relapsed/Refractory Acute Myeloid Leukaemia

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Venetoclax is a potent, oral BCL‐2 inhibitor approved as combination therapy for the treatment of adults with newly diagnosed acute myeloid leukaemia (AML) who are ineligible for intensive chemotherapy. This study evaluated the safety and preliminary efficacy of venetoclax alone or combined with chemotherapy in paediatric and ...
Seth E. Karol   +29 more
wiley   +1 more source

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