Results 241 to 250 of about 67,545 (327)

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia. [PDF]

Mol Genet Genomic Med
Barua S, Murty VV, Iglesias A, Liao J.
europepmc   +1 more source

De Novo Missense Variant in Bovine WDR33 Associated With a Complex Syndromic Form of Cleft Palate With Pentalogy of Fallot and Internal Hydrocephalus

Journal of Veterinary Internal Medicine, Volume 39, Issue 4, July/August 2025.
ABSTRACT Background Cleft palate (CP) is a congenital defect characterized by an opening in the palate. Two crossbred paternal half‐sibs with a complex syndrome including CP were identified. Hypothesis/Objectives Characterize disease phenotype and evaluate the genetic cause of the observed syndrome.
Marilena Bolcato, Giovanni Romito, Irene M. Häfliger, Arcangelo Gentile, Cord Drögemüller, Joana G. P. Jacinto   +5 more
wiley   +1 more source

Toxicity assessment using neural organoids: innovative approaches and challenges. [PDF]

Toxicol Res
Park SH, Sun W.
europepmc   +1 more source

Tmx2 Maintains Mitochondrial Function to Support Preimplantation Embryogenesis

The FASEB Journal, Volume 39, Issue 11, 15 June 2025.
TMX2 is a member of the thioredoxin‐related transmembrane protein family. It exhibits specific expression in mouse preimplantation embryos, and its subcellular localization is closely associated with mitochondria. Knockdown of Tmx2 in embryos results in a reduction in mitochondrial number, a decline in mitochondrial membrane potential, and an elevation
Shangrong Zhang, Qing Liu, Siyu Wang, Xiaoyu Zhang, Dingmei Qin, Ruisong Bai, Ji Chen, Zijian Ma, Zhipeng Lin, Yuheng Bi, Huan Liu, Aoxue Sun, Zhongzhi Mo, Hongcheng Wang, Xiaoqing Wu, Yong Liu   +15 more
wiley   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi   +6 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, Volume 12, Issue 6, Page 1302-1308, June 2025.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Neurological, Radiological, Visual, and Auditory Findings in Children with Intrauterine Exposure to the Zika Virus. [PDF]

Viruses
Martins MM, Guastavino AB, de Magalhães-Barbosa MC, de Magalhães-Barbosa MH, Garcia CFD, Amaral BKG, Barbosa AC, Ferreira HC, Robaina JR, de Oliveira MBG, Tovar-Moll FF, de Andrade Medronho R, da Cunha AJLA, Amim J, Prata-Barbosa A.   +14 more
europepmc   +1 more source

Primary Microcephaly [PDF]

, 2014
openaire   +1 more source

Unraveling Neurodevelopment: Synergistic Effects of Intrinsic Genetic Programs and Extrinsic Environmental Cues

Advanced Science, Volume 12, Issue 22, June 12, 2025.
Overview of the regulation of intrinsic and extrinsic signals during neurodevelopment. Intrinsic genetic signals from NSCs, in conjunction with cues from microglia and blood vessels, collaboratively regulate the proliferation of NSCs, their fate determination, synaptogenesis, synaptic pruning, neuronal survival, and death, as well as communication ...
Yanyan Wang, Shukui Zhang, Huiyang Jia, Fen Ji, Jianwei Jiao   +4 more
wiley   +1 more source