Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Jane DeLuca"'
Publikováno v:
Hereditary Cancer in Clinical Practice, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Familial pancreatic cancer touches families through a genetic susceptibility to developing this neoplasia. Genetic susceptibility is assessed via family history, genetic testing, or both. Individuals with two or more first-degree
Externí odkaz:
https://doaj.org/article/733958b3efb24ad085247236852478da
Publikováno v:
PLoS ONE, Vol 18, Iss 11, p e0295010 (2023)
The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic find
Externí odkaz:
https://doaj.org/article/c34c85ec9fc1443c8074090b3403d40f
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Abstract Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive
Externí odkaz:
https://doaj.org/article/6dc44ebe087b41029b04082d0bba618c
Autor:
Steven A. Skinner, Luigi Boccuto, Hannah W. Moore, Jessica A Cooley Coleman, Sara M. Sarasua, Jane DeLuca
Publikováno v:
Nursing Open, Vol 8, Iss 5, Pp 2419-2428 (2021)
Nursing Open
Nursing Open
Aim This article seeks to clarify and define the concept of tremors. Design The Walker & Avant (2005) concept analysis method was followed. Methods A search of PubMed, Academic Search Complete, CINAHL, ERIC, Google and Google Scholar was performed. R
Autor:
Hannah W. Moore, Jane DeLuca, Jessica A Cooley Coleman, Steven A. Skinner, Luigi Boccuto, Sara M. Sarasua
Publikováno v:
American Journal of Medical Genetics Part A. 185:3884-3894
MEF2C-related disorders (aka MEF2C-haploinsufficiency) are caused by variations in or involving the MEF2C gene and are characterized by intellectual disability, developmental delay, lack of speech, limited walking, and seizures. Despite these finding
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Individuals with phenylalanine hydroxylase (PAH) deficiency lack an enzyme needed to metabolize the amino acid, phenylalanine. This leads to an increase of phenylalanine in the blood, which is associated with changes in cognitive and psych
Publikováno v:
Journal for Specialists in Pediatric Nursing. 26
Purpose The purpose of this article is to review literature for neurocognitive, neuropsychiatric, neurological complications associated with phenylalanine hydroxylase (PAH) deficiency. The goal is to familiarize nurse practitioners with treatment and
Publikováno v:
Journal of the International Society for Telemedicine and eHealth. 6
Introduction: Telehealth is a growing service delivery model in clinical genetics and genetic counselling. Despite its popularity, telehealth genetic counselling (TGC) is often not incorporated into prenatal genetic services. Methods: A literature re
Publikováno v:
Clinical Journal of Oncology Nursing. 19:218-221
BACKGROUND With emerging technologies and genetic advancements in the field of oncology, ethical controversies and questions on how to approach them will continue to grow. Advancements in the field of hematopoietic stem cell transplantation have led
Autor:
Jane DeLuca
Publikováno v:
Journal of pediatric nursing. 38
Purpose There is limited research available on public knowledge and understanding of expanded newborn screening (NBS). The aims of this study were to assess current public knowledge and understanding of newborn screening disorders and procedures, per