Results 51 to 60 of about 2,740 (178)

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

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Gynecology Obstetrics & Reproductive Medicine, 2008
OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç   +5 more
doaj  

DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS

Balkan Journal of Medical Genetics, 2013
In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR).
Aykut A., Onay H., Gunduz C., Ozkinay F., Cogulu O., Sagol S.   +5 more
doaj   +1 more source

Sex differences in the late first trimester human placenta transcriptome

Biology of Sex Differences, 2018
Background Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease ...
Tania L. Gonzalez, Tianyanxin Sun, Alexander F. Koeppel, Bora Lee, Erica T. Wang, Charles R. Farber, Stephen S. Rich, Lauren W. Sundheimer, Rae A. Buttle, Yii-Der Ida Chen, Jerome I. Rotter, Stephen D. Turner, John Williams, Mark O. Goodarzi, Margareta D. Pisarska   +14 more
doaj   +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

High‐elevation adaptation and gestational hypoxia jointly shape vascular development in a rodent placenta

The Journal of Physiology, EarlyView.
Abstract figure legend We investigated how environmental hypoxia and genetic adaptation to high altitudes jointly impact the development of the placental exchange surface in ways that might protect fetal growth potential. We used wild‐derived, lab‐born North American deer mice (Peromyscus maniculatus) from low‐elevation and high‐elevation environments (
Kathryn Wilsterman, Zachary A. Cheviron, Jeffrey M. Good, Kai Gurnoe‐Brantley, Kylie E. Jewett, Katherine Kiel, Ashley M. Larson   +6 more
wiley   +1 more source

Human placental exposure to pollutant nanoparticles: uptake, translocation and functional impact

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to pollutant nanoparticles has been increasingly investigated due to concerns about their potential effects on placental function and pregnancy outcomes. Maternal inhalation of pollutant nanoparticles can result in a pro‐inflammatory response; particles can also translocate across the alveolus epithelial barrier
Katherine L. Bethell, Andrew C. Povey, Edward D. Johnstone, Peter T. Ruane   +3 more
wiley   +1 more source

A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization

Journal of the Formosan Medical Association, 2013
Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility.
Chu-Chun Huang, Li-Jung Chang, Yi-Yi Tsai, Chia-Cheng Hung, Mei-Ya Fang, Yi-Ning Su, Hsin-Fu Chen, Shee-Uan Chen   +7 more
doaj   +1 more source

A primary cell‐based fluidic co‐culture model to investigate drug transport across the human placenta

The Journal of Physiology, EarlyView.
Abstract figure legend Schematic overview of a flow‐driven in vitro model of the human placental barrier designed to study transport processes during pregnancy. The model recreates key features of the maternal–fetal interface, enabling the investigation of how nutrients and therapeutic compounds cross the placental barrier under physiologically ...
Barbara Fuenzalida, Nadja Koechli, Edgar Ontsouka, Chennakesava Cuddapah, Martin Mueller, Bram Sengers, Frantisek Staud, Christiane Albrecht   +7 more
wiley   +1 more source

Parental behaviors supporting child development in mothers of children with sex chromosome trisomies

Infant Mental Health Journal: Infancy and Early Childhood, Volume 47, Issue 4, July 2026.
Abstract Sex chromosome trisomies (SCTs) are genetic conditions caused by the presence of an additional sex chromosome. While recent studies have focused on analyzing the early competencies of children with SCTs, relatively few have investigated aspects of parent‐child interaction.
Laura Cordolcini, Beatrice Riva, Paola Zanchi, Domenica Mastromattei, Paola Francesca Ajmone, Maria Antonella Costantino, Laura Zampini   +6 more
wiley   +1 more source