Results 91 to 100 of about 5,473 (268)

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran

Egyptian Journal of Medical Human Genetics
Background Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted.
Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi, Ariane Sadr-Nabavi   +8 more
doaj   +1 more source

Endothelial‐to‐mesenchymal transition in the fetoplacental macrovasculature and microvasculature in pregnancies complicated by gestational diabetes

The Journal of Physiology, EarlyView.
Abstract figure legend Transforming growth factor (TGF)‐β2 and interleukin (IL)‐1β induced morphological and molecular changes consistent with endothelial‐to‐mesenchymal transition (EndMT) in HUVECs isolated from both pregnancies complicated by gestational diabetes (GDM) and non‐GDM pregnancies.
Abigail R. Byford, Georgia Fakonti, Ziyu Shao, Sharanam Soni, Sophie L. Earle, Muath Bajarwan, Lara C. Morley, Beth Holder, Eleanor M. Scott, Karen Forbes   +9 more
wiley   +1 more source

A Situational Overview of Prenatal Screening Services in Bhutan

Public Health Challenges
Prenatal genetic testing is to determine the possibility of the fetus having a genetic aberration or birth defect. Prenatal screening consists of serum analytes screening with or without nuchal translucency (NT) scanning or with cell‐free DNA (CfDNA ...
Yeshey Dorjey, Tashi Gyeltshen, Thinley Dorji, Don Eliseo Lucero‐Prisno III, Mimi Lhamu Mynak, Sonam Gyamtsho, Tashi Tshomo, Phurb Dorji   +7 more
doaj   +1 more source

Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases [PDF]

, 2011
Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children.
Asli Subasioglu Uzak, Munis Dundar, Murat Erdogan, Yagut Akbarova   +3 more
core   +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

Study of nuchal translucency, ductus venosus, nasal bone and maternal age for detection of fetal chromosomal disorders in a high-risk population [PDF]

, 2008
OBJECTIVE: To evaluate fetal nuchal translucency, ductus venosus, nasal bone and maternal age > 35 years by means of aneuploidy screening between the 12th and 14th gestational weeks in a high-risk population.
Almeida, Alessandro de Moura, Araujo Júnior, Edward, Lopes, Antonio Carlos Vieira, Lopes, Luciana Vieira, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado, Pimentel, Kleber, Toralles, Maria Betânia Pereira   +7 more
core   +3 more sources

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 348-352, February 2026.
ABSTRACT Genome‐wide non‐invasive prenatal testing (NIPT) is a powerful tool for prenatal detection of the common aneuploidies causing Down‐, Edwards‐, and Patau syndrome. Its genome‐wide reach also enables the detection of unbalanced structural chromosomal abnormalities.
Servi J. C. Stevens, Wanwisa van Dijk, Nicole Y. Souren, Merryn V. E. Macville, Guillaume van de Zande, Brigitte H. W. Faas, Bart de Koning, Arthur van den Wijngaard, Sonja de Munnik, Masoud Zamani Esteki   +9 more
wiley   +1 more source

Placental biomarkers of phthalate effects on mRNA transcription: application in epidemiologic research

Environmental Health, 2009
Background CYP19 and PPARγ are two genes expressed in the placental trophoblast that are important to placental function and are disrupted by phthalate exposure in other cell types.
Nelson Heather, Thaker Harshwardhan M, Whyatt Robin M, Williams Paige L, Hauser Russ, Adibi Jennifer J, Herrick Robert, Bhat Hari K   +7 more
doaj   +1 more source

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I—clinical impact [PDF]

, 2016
Objective: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).
Bax, C.J. (Caroline), Bekker, M.N. (Mireille), Bilardo, C.M. (Caterina Maddalena), Boon, E.M.J. (Elles ), Coumans, A. (Audrey), Faas, B.H.W. (Brigitte), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Henneman, L. (Lidewij), Huijsdens-van Amsterdam, K. (Karin), Macville, M.V.E. (Merryn), Oepkes, D., Page-Christiaens, G.C.L. (G. C. Lieve), Pajkrt, E. (Eva), Schuring-Blom, G.H. (Heleen), Sistermans, E.A. (Erik), Suijkerbuijk, R. (Ron), Van Opstal, A.R.M. (Diane), Verweij, E.J.J. (E. J. Joanne), Weiss, M.M. (Marjan M.)   +19 more
core   +1 more source