Results 141 to 150 of about 49,418 (253)

Long-term outcomes of children born with neural-tube defects in Botswana. [PDF]

BMC Pediatr
Isaacson A, Diseko M, Mabuta J, Kgannyeng A, Mayondi G, Lockman S, Caniglia E, Makhema J, Holmes L, Zash R, Shapiro R.   +10 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Retraction Note: Restoring BMP4 expression in vascular endothelial progenitors ameliorates maternal diabetes-induced apoptosis and neural tube defects. [PDF]

Cell Death Dis
Cao S, Reece EA, Shen WB, Yang P.
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Mandatory food fortification in the eastern Mediterranean region results in reduced prevalence of neural tube defects. [PDF]

Front Public Health
Roozen S, Johnson Q, Ibrahim E, Al Maamari S, Barkat A, Al Shammakhi S, Laamiri FZ, Hassan A, Gamih H, Yahyane A, Al Jawaldeh A.   +10 more
europepmc   +1 more source

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

Parental Characteristics Associated With Children Born With Neural Tube Defects in Puebla, Mexico. [PDF]

Cureus
Crisanto-López IE, Juárez-Melchor D, Vera-Loaiza A, Sánchez-Muñoz V, Vergara-Matus DG, Ruiz-Calpe M, Pérez-Arzola AA, Hernández-Castañeda Y, Olivares-Huerta O, Cervantes-Larios J, Flores-Alonso JC.   +10 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

Correction: Birth prevalence and determinants of neural tube defects among newborns in Ethiopia: A systematic review and meta-analysis. [PDF]

PLoS One
Gebremariam BM, Hailu D, Stoecker BJ, Mulugeta A.   +3 more
europepmc   +1 more source

Animal models of idiopathic membranous nephropathy: Recent advances and future perspectives

Animal Models and Experimental Medicine, EarlyView.
This review focuses on the evolution of idiopathic membranous nephropathy (IMN) animal models from traditional approaches (Heymann nephritis, C‐BSA, APA) to antigen‐specific models (PLA2R, THSD7A), critically evaluating their advances and limitations in replicating human IMN pathology.
Qiuying Liu, Huixian Bian, Jianhua Liu, Lina Wu, Zhijie Zhang, Hongli Zhao, Xiaosong Qin   +6 more
wiley   +1 more source