Results 141 to 150 of about 49,514 (255)

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

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

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

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

Vitamins and neural tube defects [PDF]

BMJ, 1988
openaire   +2 more sources

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +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

Are there morpho‐acoustic patterns of adaptation in nonhuman primate ears? Testing the role of ecology and habitat in shaping ear morphology and function

The Anatomical Record, EarlyView.
Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot, Rémi Laffont, Émilie Steimetz, Patricia Balaresque, Sébastien Couette   +4 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

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source