Results 91 to 100 of about 2,436,409 (301)

Experiences of Informational Needs and Received Information Following a Prenatal Diagnosis of Congenital Heart Defect

, 2016
OBJECTIVE: To explore the need for information and what information was actually received following a prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not clinically performed ...
Bergman, Gunnar, Mattsson, Elisabet, Wadensten, Barbro, Wadensten, Barbro,, Carlsson, T, Mattsson, Elisabet,, Bergman, G,, Wadensten, B, Carlsson, Tommy, Bergman, Gunnar,, Carlsson, Tommy,, Mattsson, E   +11 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

Molecular Cytogenetics, 2019
Background 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application of cytogenetic and molecular ...
Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu, Ruixue Wang   +6 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study

Annals of Neurology, EarlyView.
Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari, Adam C. Frank, Ravi Bansal, Flora M. Vaccarino, Robert A. King, Paul Lombroso, Lawrence Scahill, James F. Leckman, Bradley S. Peterson   +8 more
wiley   +1 more source

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman, Boardman, Felicity Kate, Boardman, Felicity K.   +2 more
core   +1 more source

Clinical application value of preconception and prenatal carrier screening in Yinchuan

Frontiers in Genetics
ObjectiveTo explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan.MethodsA total of 1,319 participants underwent ECS, including 1,063 females receiving preconception or prenatal ...
Hua Han, Xiaoyan Zhu, Lifen Chai, Yingchun Ha, Fuying Zhao, Lihua Pan   +5 more
doaj   +1 more source

Investigating the changes in skin color representation within US medical textbook imagery

Anatomical Sciences Education, EarlyView.
Abstract Medical education traditionally relies on textbooks with limited representation of dark skin tones, contributing to “visual racism.” This study sought to answer: “To what extent has skin‐of‐color representation changed in widely used U.S. medical textbooks over twenty years?” Older and newer editions of four widely used medical textbooks were ...
Justin Lyon, Dillon Stevens, Adriene Pavek, Annabelle Huntsman, Jennifer L. Hamilton   +4 more
wiley   +1 more source

Prenatal diagnosis and postnatal follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia [PDF]

, 2013
The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult.
Celik, I., Hallioglu, O., Kibar, Ayse E., Erdem, Sukru   +3 more
core  

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

, 1992
We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this
Moore, C. M., Campbell, L., Robert W. Huff, Huff, R. W., Larry J. Shapiro, Bick, D. P., Price, P. A., David P. Bick, Shapiro, L. J., Leslie Campbell, Daniel F. Schorderet, Paul A. Price, Charleen M. Moore, Schorderet, D. F.   +13 more
core   +1 more source