Results 41 to 50 of about 15,902 (210)

Aicardi syndrome

CHRISMED Journal of Health and Research, 2018
Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum, and ophthalmological abnormalities.
Saika Amreen, Feroze Shaheen, Tariq Gojwari   +2 more
doaj   +1 more source

Partial corpus callosal agenesis with ventriculomegaly and sulcal anomaly in a 10-year-old child

Nigerian Postgraduate Medical Journal, 2018
Agenesis of the corpus callosum is a heterogeneous, congenital neurodevelopmental condition that can be observed either in isolation or in combination with other brain abnormalities.
Austine Abebe Osawe, Saleh M Kabir, Anas Ismail   +2 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Prenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32 [PDF]

, 2013
We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia.
Chung, BHY, Ding, SCK, Lau, ETK, Shek, NWM, Tan, TY, Tang, MHY   +5 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Concordance of Prenatal Ultrasonography and Magnetic Resonance Imaging in the Classification of Corpus Callosum Dysplasia

Clinical and Experimental Obstetrics & Gynecology
Background: Prenatal ultrasound has always been difficult to classify fetal corpus callosum abnormalities. This paper aims to evaluate the added value of fetal magnetic resonance imaging (MRI) to ultrasound in detecting fetal corpus ...
Hui Peng, Xi Chen, Xuejin Zou, Yan Song, Chunlan Cheng, Jianli Zhang   +5 more
doaj   +1 more source

Variability of forebrain commissures in callosal agenesis: a prenatal magnetic resonance imaging study [PDF]

, 2016
Introduzione e Scopo dello Studio L’agenesia completa del corpo calloso (ACC) anche quando isolata può essere espressione di eterogeneità anatomica. Lo scopo dello studio è descrivere la variabilità delle altre strutture commissurali in un’ ampia corte
Nanni, Michela <1976>
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

A chemical genetic approach reveals distinct EphB signaling mechanisms during brain development. [PDF]

, 2012
EphB receptor tyrosine kinases control multiple steps in nervous system development. However, it remains unclear whether EphBs regulate these different developmental processes directly or indirectly.
Ataman, Bulent, Bloodgood, Brenda L, Cowan, Christopher W, Greenberg, Michael E, Ho, Hsin-Yi Henry, Malik, Athar N, Robichaux, Michael A, Rubin, Alex A, Sharma, Nikhil, Shokat, Kevan M, Soskis, Michael J, Zhang, Chao, Zieg, Janine   +12 more
core   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source