American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava +5 more
wiley +1 more source
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort. [PDF]
Genes (Basel)Berry V +6 more
europepmc +1 more source
Assignment of the 2P domain, acid-sensitive potassium channel OAT1 gene KCNK3 to human chromosome bands 2p24.1-->p23.3 and murine 5B by in situ hybridization. [PDF]
, 1999 Bray-Ward, P +3 more
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Diagnostic Accuracy and Chromosomal Microarray and Karyotype Analysis with Different Clinical Biomarkers for Prenatal Diagnosis of Fetal Genetic Diseases. [PDF]
Iran J Public HealthCai F +5 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan +5 more
wiley +1 more source
Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening. [PDF]
J Genet CounsWalker J +8 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang +9 more
wiley +1 more source
Case Report: A novel t(15;17)(q24;q11.2) translocation involving <i>NF1::SCAMP5</i> fusion in a patient with myeloproliferative neoplasms. [PDF]
Front OncolChang Y +5 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica +4 more
wiley +1 more source