Results 191 to 200 of about 347,249 (314)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

How do pregnancy complications, intrapartum, and neonatal risks differ in bicornuate and didelphys uteri? A population-based study. [PDF]

Reprod Fertil
Alharazi S, Badeghiesh A, Baghlaf H, Dahan MH.   +3 more
europepmc   +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

Conserved gene expression patterns in the placenta underlie pregnancy complications associated with hypoxia in mice and humans. [PDF]

Cell Mol Life Sci
Siragher EJ, Higgins JS, Vaughan OR, Fowden AL, Sferruzzi-Perri AN.   +4 more
europepmc   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Inhibition of NFAT after human uterus transplant promotes loss of tissue-resident NK cells and attendant pregnancy complications. [PDF]

Sci Transl Med
Asiimwe R, Knott B, Greene ME, Wright ED, Bell M, Epstein D, Yates SD, Gonzalez MV, Fry S, Boydston Procópio E, Clevenger S, Locke JE, Brocato BE, Burgan CM, Burney R, Arora N, Duncan VE, Richter HE, Gunn D, Freud AG, Little SC, Porrett PM.   +21 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Anti-Müllerian hormone ameliorates uterine DNA damage response and prevents pregnancy complications in doxorubicin-treated mice†. [PDF]

Biol Reprod
Nguyen NMP, Mermin-Bunnell AM, de Mattos K, Cleverdon J, Kano M, Chauvin M, Godin P, Kashiwagi A, Duong T, Nagykery N, Donahoe PK, Meinsohn MC, Pepin D.   +12 more
europepmc   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Pregnancy complications as a marker of future cardiovascular disease risk. [PDF]

BMC Med
Grandi SM, Smith G.
europepmc   +1 more source