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Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome
BackgroundRing chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material....
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Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study
BackgroundTurner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical...
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Parenthood among individuals with Turner syndrome: results of an online survey of attitudes towards pregnancy, adoption, and surrogacy
Choosing a route to parenthood can be a difficult decision for individuals with Turner syndrome, who must consider the unlikely possibility of...
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CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the second sex chromosome and exhibits phenotypic heterogeneity,...
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Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome –a nationwide cohort study
The literature about eye, ear, nose, skin, and nervous system disorders in women with Turner syndrome is equivocal. Impaired vision and hearing in...
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A Turner syndrome case associated with dic(Y;22)
BackgroundConstitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood.
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Turner syndrome: language profile of young girls at 12 and 24 months of age
BackgroundTurner syndrome (TS) is a genetic disorder associated with complete or partial absence of an X chromosome affecting approximately 1/2000...
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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report
BackgroundTurner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in...
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Ring Chromosome X
Cases with ring chromosome X (RCX) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Corporeal Pedagogy: Visualizing Anatomy Through Art, Archaeology, and Medicine
This chapter outlines the educational methodology, Corporeal Pedagogy established by Dr. Olivia Turner and Dr. Sally Waite, which uses the Shefton...
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Human Genetics of Semilunar Valve and Aortic Arch Anomalies
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause...
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Ring Chromosome Y
Cases with ring chromosome Y (RCY) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency
ObjectiveTo evaluate the prenatal and perinatal outcome of fetuses with extremely large nuchal translucency (eNT) thickness (≥ 6.5 mm).
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Prevalence of autoimmune thyroid diseases among the Turner Syndrome patients: meta-analysis of cross sectional studies
ObjectiveThis meta-analysis was done to estimate the prevalence of autoimmune thyroid diseases (ATDs) in Turner Syndrome patients, and to determine...
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General Introduction to Model-Based Cognitive Neuroscience
In this chapter, we provide an overview to the second edition of the Introduction to Model-based Cognitive Neuroscience (MbCN) book. In so doing, we...
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Human Genetics of Hypoplastic Left Heart Syndrome
Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricleLeft...
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Prefrontal Control of Actions and Habits
Habits help to reduce cognitive load and free up resources required for dynamic goal-directed decisions. The prefrontal cortex has been largely...
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Advancements in Joint Modeling of Neural and Behavioral Data
Since the first edition of this book, several new developments have made the joint modeling approach more attractive for researchers in model-based...