Results 181 to 190 of about 419,067 (303)

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature. [PDF]

Front Med (Lausanne)
Oelmeier K, Horváth J, Vogtmann R, Meyer-Wittkopf M, Möllers M, Schmitz R, Oberste KM, Willy D.   +7 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Atrial septal defect with constrictive pericarditis: Report of a rare case

Asian Journal of Surgery
Qiangqiang You, Yang He, Fa Shu, Jiaqi Zhang   +3 more
doaj   +1 more source

A case report of intramural pregnancy with uterine rupture: a warning signal from ineffective evacuation. [PDF]

Front Med (Lausanne)
Wang D, Lei H, Lu Q, Yan S, Fu X, Fang Y.   +5 more
europepmc   +1 more source

Reproduction [PDF]

, 2015
Kessler, Gwynn
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Successful treatment of peritonitis associated with Campylobacter fetus subspecies fetus in peritoneal dialysis patients: a case report and literature review. [PDF]

BMC Infect Dis
Cao Y, Liang X, Qu P, Bao K, Zuo Q.
europepmc   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Renal metastatic seminoma: Report of a rare case

Asian Journal of Surgery
Juan Song, Caihong Chang, Benzheng Zhou, Jiaqi Zhang   +3 more
doaj   +1 more source

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source