Results 41 to 50 of about 17,648 (257)

Methods of dichotic listening as a research methodology for hemispheric interaction. [PDF]

Psychology in Russia: State of Art, 2014
Experimental data was obtained from a dichotic listening test by patients with unilateral brain lesions and corpus callosum pathology (agenesis, cysts, degenerative changes, etc).
Kovyazina M.S., Roshchina E.I.
doaj   +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

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

Verbal learning and memory in agenesis of the corpus callosum [PDF]

, 2014
The role of interhemispheric interactions in the encoding, retention, and retrieval of verbal memory can be clarified by assessing individuals with complete or partial agenesis of the corpus callosum (AgCC), but who have normal intelligence.
Brown, Warren S., Erickson, Roger L., Paul, Lynn K.   +2 more
core   +2 more sources

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

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 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

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

Prenatal Diagnosis of WAGR Syndrome. [PDF]

, 2015
Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million.
Bhide, A, Rich, P, Tezcan, B
core   +3 more sources

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