Results 61 to 70 of about 17,723 (256)

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

Anomalies of the Corpus Callosum in Prenatal Ultrasound: A Narrative Review for Diagnosis and Further Counseling

Journal of Medical Ultrasound
The corpus callosum is the major interhemispheric tract that plays an important role in neurological function. Understanding the etiology and embryology development helps the ultrasound diagnosis for disorders of the corpus callosum and further ...
Fang-Tzu Wu, Chih-Ping Chen
doaj   +1 more source

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Molecular Cytogenetics, 2011
Background Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD).
Lall Meena, Thakur Seema, Puri Ratna, Verma Ishwar, Mukerji Mithali, Jha Pankaj   +5 more
doaj   +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

Condotte compulsive in paziente con sindrome di Aicardi. agenesia del corpo calloso [PDF]

, 2013
The corpus callosum, which is the largest white matter structure in the brain of all placental mammals, connects the left and right cerebral hemispheres.
A. Anastasia, A. Quartini, BERSANI, Giuseppe, C. Colletti, E. Prinzivalli, F. S. Bersani, G. Valeriani   +6 more
core  

Assessment of length and area of corpus callosum by three-dimensional ultrasonography [PDF]

, 2010
PURPOSE: to establish reference values for the length and area of the fetal corpus callosum between the 20th and 33rd weeks of gestation using three-dimensional ultrasound (3DUS).
Araujo Júnior, Edward, Moron, Antonio Fernandes, Nardozza, Luciano Marcondes Machado, Rolo, Liliam Cristine, Visentainer, Milena   +4 more
core   +3 more sources

Whole-Exome Sequencing Revealed Mutations of MED12 and EFNB1 in Fetal Agenesis of the Corpus Callosum

Frontiers in Genetics, 2019
Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common.
Ying Jiang, Ye-Qing Qian, Meng-Meng Yang, Qi-Tao Zhan, Yuan Chen, Fang-Fang Xi, Matthew Sagnelli, Min-Yue Dong, Bai-Hui Zhao, Qiong Luo   +9 more
doaj   +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

Complete agenesis of the corpus callosum in paranoid schizophrenia—a case report

Clinical Case Reports, 2021
Corpus callosum agenesis is a rare condition and is sometimes associated with schizophrenia. The co‐existence of these two conditions adds value to the neurodevelopmental theory of schizophrenia.
Hari Neupane, Suresh Adhikari, Saraswati Dhungana   +2 more
doaj   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source