Results 221 to 230 of about 133,752 (286)

Visualization of the Fetal Corpus Callosum in Routine Second Trimester Screening Ultrasound Examinations. [PDF]

J Ultrasound Med
Fernando S, Lavender I, Coombs P, Van Haltren K, Lombardo P, Goodyear M, Rolnik DL.   +6 more
europepmc   +1 more source

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, EarlyView.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
wiley   +1 more source

Innovative In Vivo Imaging and Single Cell Expression from Tumor Bulk and Corpus Callosum Reveal Glioma Stem Cells with Unique Regulatory Programs. [PDF]

Cancers (Basel)
Dos Santos N, Aquino A, Preußer F, Rusak FR, Jandrey EHF, Uno M, Furuya TK, Lancellotti CLP, Maldaun MVC, Chammas R, Preibisch S, Camargo AA, Masotti C, Costa ET.   +13 more
europepmc   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

The corpus callosum in people with congenital adrenal hyperplasia (CAH). [PDF]

Sci Rep
Luders E, Spencer D, Dale C, Hughes IA, Thankamony A, Srirangalingam U, Gleeson H, Simpson H, Hines M, Kurth F.   +9 more
europepmc   +1 more source

Clinical characteristics of autoimmune glial fibrillary acidic protein astrocytopathy in adults: a retrospective analysis of 9 cases

Internal Medicine Journal, EarlyView.
Abstract Background To identify early diagnostic clues, we analysed cerebrospinal fluid and serum biomarkers in patients with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) and compared biomarker trends with those in patients with viral meningoencephalitis, tuberculous meningoencephalitis, and anti‐N‐methyl‐D‐aspartate receptor ...
Siruo Guo, Jinyu Huang, Tingting Liu, Wu Yang   +3 more
wiley   +1 more source

Boomerang Sign in the Splenium of the Corpus Callosum After Vestibullar Schwannoma Treatment: Case Report and Review of the Literature. [PDF]

Reports (MDPI)
Laskowski M, Błaszczyk B, Setlak M, Rudnik A, Warmuz-Uhma E, Herzyk J.   +5 more
europepmc   +1 more source

Familial corpus callosum agenesis.

The Turkish journal of pediatrics, 1978
E Ozdirim, Y Renda
openaire   +2 more sources

Psychostimulant treatment uniquely reduces left uncinate fasciculus microstructural integrity in ADHD youth with a familial risk for bipolar I disorder: a 12‐week DTI study

Journal of Child Psychology and Psychiatry, EarlyView.
Background Bipolar I disorder (BD) is associated with reduced white matter microstructural integrity in the uncinate fasciculus (UF), a primary fiber tract connecting frontolimbic systems. Although familial history for BD, attention‐deficit/hyperactivity disorder (ADHD), and psychostimulants are important risk factors implicated in BD pathoetiology ...
Kun Qin, Wen Chen, Du Lei, Ziyu Zhu, Maxwell J. Tallman, Nanfang Pan, Lisha Zhang, Luis Rodrigo Patino, John A. Sweeney, Melissa P. DelBello, Robert K. McNamara   +10 more
wiley   +1 more source

How should antenatal counseling be given to parents in the fetal corpus callosum agenesis? [PDF]

BMC Pregnancy Childbirth
Süt H, Yıldız GA.
europepmc   +1 more source