Results 41 to 50 of about 3,357 (148)
AIDS Research and Treatment, Volume 2026, Issue 1, 2026.Introduction Despite advancements in antiretroviral therapy (ART) availability, maintaining optimal adherence remains difficult, especially in low‐ and middle‐income countries (LMICs). This literature review synthesized evidence on barriers and interventions influencing adherence to ART among children and adolescents with HIV, focusing on studies ...
Flora Ramona Sigit Prakoeswa +7 more
wiley +1 more source
Case Reports in Genetics, Volume 2026, Issue 1, 2026.Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed +11 more
wiley +1 more source
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines
Human Mutation, Volume 2026, Issue 1, 2026.Purpose The 2015 guidelines recommend using a large, diverse, and race‐matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene‐specific interpretations of ACMG/AMP guidelines, including population information.
Xiaoyan Wang +7 more
wiley +1 more source
Adult issues in phenylketonuria. [PDF]
, 2009 Contains fulltext : 79889.pdf (Publisher’s version ) (Open Access)Phenylketonuria (PKU) is a classical example of an inherited metabolic disease, in which mental retardation can be prevented successfully by using a diet.
Heijer, M. den +2 more
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Evaluating cardiac gene expression in maternal phenylketonuria offspring
, 2006 Thesis (M.S.)--Wichita State University, College of Liberal Arts and Sciences, Dept. of Biological SciencesIncludes bibliographic references (leaves 33-39).Maternal phenylketonuria (MPKU) is a teratogenic syndrome, caused by development of offspring in a
McCoy, Jennifer Ellie
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, 2012 International audienceBACKGROUND: Malformations and mental retardation in the offspring of women with Phenylketonuria (PKU) can be prevented by maintaining maternal blood Phenylalanine (PHE) within a target range (120-300 μmol/L) through a PHE-restricted
Aline Cano +20 more
core +1 more source
Cardiovascular defects among the progeny of mouse phenylketonuria females
, 1997 The full text of this article is not available in SOAR.In a genetic mouse model of human phenylketonuria we have examined the offspring of hyperphenylalaninemic mothers for the presence of cardiovascular defects, an important feature of the pathology of ...
Dyer, Charissa A. +3 more
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The effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring
, 1999 Maternal phenylketonuria is a disease process caused by the adverse effects of high maternal blood phenylalanine (PHE) on the fetus. Unless treated, maternal PKU results in teratogenic effects on the fetus that can lead to mental retardation ...
Chung, Sangbun
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Mothers and Fathers Facing Their Children’s Phenylketonuria
, 2018 The aim of this study is to understand the impact of children’s Phenylketonuria (PKU) on mothers and fathers and to assess the mutual influence of the psychological functioning of one parent on the other.
Ionio, Chiara +3 more
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Maternal perinatal mental health: effects on children
, 2021 This thesis is submitted in partial fulfilment of the requirements for the degree of Doctorate in Clinical Psychology (Clin.Psy.D.) at the University of Birmingham. This thesis comprises three chapters.
Harris, Charlotte Ruth
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