Results 191 to 200 of about 133,752 (286)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Hypernatremia, Hyperlipemia and Hemorrhagic Enteritis in a Hypodipsic Dog with Corpus Callosum Dysplasia. [PDF]

Animals (Basel)
Giannuzzi P, Perillo R, Cafaro M, Paci S, Capogrosso C, Panarese M, Campanile D.   +6 more
europepmc   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Learning From a Missed Diagnosis: Complete Agenesis of the Corpus Callosum With Benign Hydrocephalus. [PDF]

Clin Case Rep
Samaranayake JE, Kankanamge SM, Pirakash P, Liyanage UA, Mathangasinghe Y, Gonsalvez DG, Gunasekera N.   +6 more
europepmc   +1 more source

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard, Karen Mei Xian Lim, Graeme Smith, Elizabeth Scotchman, Alexander Gibbs, Patrick Lombard, Natalie J. Chandler   +6 more
wiley   +1 more source

Impaired Complex I dysregulates neural/glial precursors and corpus callosum development revealing postnatal defects in Leigh syndrome mice. [PDF]

EMBO Mol Med
Biswas SR, Tomsick PL, Kelly C, Lester BA, Milner JP, Henry SN, Soto Y, Brindley S, DeFoor N, Morton PD, Pickrell AM.   +10 more
europepmc   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Adaptive Functioning Development in Infants With Agenesis of the Corpus Callosum. [PDF]

Pediatrics
Haisley LD, Hantzsch L, Glick AR, Turner J, Sung S, Swanson MR, Wolff JJ, Burrows CA, Botteron KN, Dager SR, Estes AM, Flake L, McKinstry RC, Pandey J, Schultz RT, Shen MD, John TS, Zwaigenbaum L, Hazlett HC, Marrus N, Will EA, Roberts JE, Piven J, Paul LK, Elison JT.   +24 more
europepmc   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report. [PDF]

Medicine (Baltimore)
Cao GH, Zhang AQ, Dong Y, Fan LL, Yin JY, Tang LL, Li YL.   +6 more
europepmc   +1 more source