Results 151 to 160 of about 15,755 (254)

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz, Alain Hovnanian, Grace Xiong, Dedee Frances Murrell, Simon M. Mueller, Khaled Ezzedine, Nessa Aghazadeh Mohandesi, Ahmed Salem Aldhaheri, Nissim Asayag, Eulalia Baselga, Chen Nadler, Keith Choate, Chia‐Yu Chu, John Robert Edminister, Emmanuella Guenova, Melis Gönülal, Antoni Gostynski, Ankan Gupta, Lalit Kumar Gupta, Juliette Mazereeuw‐Hautier, Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E. Mellerio, Verena Moosbrugger‐Martinz, Amy S. Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera‐Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L. Simpson, Diego Soto‐García, Alexander J. Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K. Verma, Jakob D. Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk‐Gad   +49 more
wiley   +1 more source

Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates. [PDF]

Appl Clin Genet
Son TT, Tien ST, Khoa TV, Ho HS, Thi Thu HL, Nguyen NN, Son DT, Van PN, Pham MD, Doan HT.   +9 more
europepmc   +1 more source

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

Journal of Midwifery &Women's Health, EarlyView.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson, Naomi O. Riches, Stephanie Arceneaux, Emma Murdock, Caitlin Quade, Susanna R. Cohen, Robin E. Jensen   +6 more
wiley   +1 more source

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies. [PDF]

Mol Cytogenet
Suo F, Wang J, Liao M, Wang Y, Zhang Y, Lu X, Gou L, Zhang M, Wu Q, Yin X, Li X, Sun M, Wang L, Gu M, Zhu J.   +14 more
europepmc   +1 more source

Gender‐Sensitive Nursing: An Operationalizing Concept Analysis

Journal of Clinical Nursing, EarlyView.
ABSTRACT Introduction Gender biases in healthcare approaches lead to inequities in patient health outcomes, historically affecting women and gender minorities the most. In medicine, the concept of gender medicine explicitly addresses these disparities.
Ainitze Labaka, María Isabel Trespaderne, Agurtzane Mujika, Naia Hernantes   +3 more
wiley   +1 more source

Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area. [PDF]

Front Genet
Zhou M, Zhang H, Wen J, Liu N, Wu Z, Lin T, Tang M, Huang Y, Xiao Y, Xie H, Ouyang X, Xiao X, Deng L, Chen N, Zeng A, Peng J.   +15 more
europepmc   +1 more source

Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand. [PDF]

BMC Pregnancy Childbirth
Chansriniyom N, Panburana P, Chantratita W, Sensorn I, Wattanasirichaigoon D, Prakobpanich M, Nimnoo S, Tangshewinsirikul C.   +7 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Autosomal recessive interferon alpha and beta receptor subunit 1 (IFNAR1) deficiency is a rare and heritable inborn error of immunity (IEI) predisposing individuals to severe and life‐threatening viral infections. It is more common in people of Western Polynesian ancestry, with estimates of around one in six thousand live births affected, due ...
Cecilia Verryt, Paul Gray, Peter McNaughton, Jane Peake, Melanie Wong, George Aho, Emma Best, Maia Brewerton, Flora Lutui, Litara Esera Tulifau, Rebecca Qin, Satupa‘itea Viali, Petine White, Andrew Wood, See‐Tarn Woon, Theresa Cole, Alberto Pinzon Charry, Kuang‐Chih Hsiao   +17 more
wiley   +1 more source

Improved positive predictive value of non-invasive prenatal testing through integration with second-trimester ultrasound soft markers for fetal chromosomal abnormalities: a retrospective cohort study. [PDF]

Front Endocrinol (Lausanne)
Fu D, Wu Q, Ju Y, Jiang M, Zhang S.
europepmc   +1 more source