Results 151 to 160 of about 72,857 (290)

Use of Aflibercept to Treat Choroidal Neovascularization Secondary to Choroidal Osteoma in a 7-Year-Old Child: A Multimodal Imaging Case Report. [PDF]

Case Rep Ophthalmol Med
Altalhi A, Alqurashi A, Albassam M, Alyahya A.   +3 more
europepmc   +1 more source

Reward processing in children with affective dysregulation

JCPP Advances, EarlyView.
Abstract Background Affective dysregulation (AD) in children is characterized by irritability, anger, and frequent intense temper outbursts. Considerable evidence implies altered processing of frustration about missed rewards, but few studies investigated the preceding and thus potentially predictive reward anticipation and initial delivery processing ...
Pascal‐M. Aggensteiner, Francisca Giller, Nathalie Holz, Anna Kaiser, Christine Igel, Sarah Hohmann, Manfred Döpfner, Veit Roessner, Christian Beste, Tobias Banaschewski, Daniel Brandeis, on behalf ofthe ADOPT Consortium   +11 more
wiley   +1 more source

Genomic Profiling of Anophthalmia/Microphthalmia-Associated CNVs Reveals Complex Genotype-Phenotype Correlations and Incomplete Penetrance. [PDF]

Mol Genet Genomic Med
Wu D, Zhang M, Zhang Q, Wang F, Hou Q, Liu H, Liao S, Xiao H.   +7 more
europepmc   +1 more source

The role of rare copy number variants in early‐onset depression

JCPP Advances, EarlyView.
Abstract Background Depression is a highly heterogeneous condition. Depression with an onset in childhood and early adolescence has a worse clinical course, is more heritable, and shows a lower genetic correlation with other depression subtypes, than does later‐onset depression.
Charlotte A. Dennison, Ida Sønderby, Miguel Garcia‐Argibay, Victoria Powell, Amy Shakeshaft, Lucy Riglin, Elliott Rees, Michael O’Donovan, Henrik Larsson, Ole Andreassen, Alexandra Havdahl, Joanna Martin, Anita Thapar   +12 more
wiley   +1 more source

Untangling the Copy Number Variation at the Basis of Belted Phenotypes in Cattle Using Long-Read Sequencing. [PDF]

Anim Genet
Hogers RAH, Bosse M, Rattink AP, González-Prendes R, Gòdia M, Laport K, Groenen MAM, Crooijmans RPMA, Bouwman AC.   +8 more
europepmc   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity. [PDF]

Prenat Diagn
Zhang M, Li J, Ren C, Liu Y, Bian W, Han X, Wang M, Chen X, Hu Y, Kan M, Liu L.   +10 more
europepmc   +1 more source

WTAP‐Mediated m6A Modification of TXNDC5 mRNA Promotes Cervical Carcinogenesis

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT WT1‐associated protein (WTAP), a core component of the methyltransferase complex, is involved in various tumor pathological processes, but its specific mechanism in cervical cancer (CC) remains unclear. This study, based on single‐cell transcriptomic data (including 3 CC and 2 normal tissues), constructed a CC microenvironment cell atlas ...
Ling Chen, Nuo‐Xin Hu, Zhao‐Ying Chen, Ke‐An Zhu, Wei Huang   +4 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Identifying Choroidal Neovascularization-Associated Genes with GenePlexus in a Protein-Protein Interaction Network. [PDF]

Life (Basel)
Liu L, Zhang Y, Huang F, Bao Y, Zhang J.
europepmc   +1 more source