Results 21 to 30 of about 452 (139)

A possible role of GDNF expression by which cabergoline use affects corpus callosum

Journal of Pediatric and Neonatal Individualized Medicine, 2018
A variety of malformations have been associated with cabergoline use during gestation. Recently we had a preterm male infant referred to our Neonatal Intensive Care Unit diagnosed with corpus callosum agenesis confirmed by brain ultrasound and brain ...
Georgios Mitsiakos, Anastasia Gkampeta
doaj   +1 more source

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

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

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

Clinical Features of Corpus Callosum Agenesis

Pediatric Neurology Briefs, 2006
The clinical and genetic characteristics of 63 patients with agenesis of the corpus callosum (ACC) are reported from the Scientific Institute “E Medea,” Italy.
J Gordon Millichap
doaj   +1 more source

Agenesis of the corpus callosum and hepatoblastoma

American Journal of Medical Genetics Part A, 2019
AbstractAgenesis of the corpus callosum is a congenital brain malformation that can occur in isolation or as a component of a congenital syndrome. Hepatoblastoma (HB) is a rare tumor that comprises two thirds of primary hepatic neoplasms in children and adolescents. Up to 20% of children with HB have associated congenital anomalies.
Taylor M. Luckie, Samara L. Potter, Carlos A. Bacino, Rachana Shah, Andras Heczey, Rajkumar Venkatramani   +5 more
openaire   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +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

Anesthetic management in corpus callosum agenesis

Anesthesia: Essays and Researches, 2018
Corpus callosum agenesis develops when the band which connects the two hemispheres of the brain does not occur in utero. It is associated with prenatal infections, genetic factors, toxic exposures, metabolic disorders, and chromosome errors. Mostly seen clinical features are macrocephaly, microcephaly, seizures, motor retardation, hypotonia, eye ...
Kılıç, Ebru Tarıkçı, Akçay, Mehmet Erdem, Akdemir, Mehmet Salim, Atağ, Egemen, Gürsu, Onur   +4 more
openaire   +3 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source