Results 221 to 230 of about 13,805 (257)

Neuroimaging in lissencephalies

Child's Nervous System, 1993
Based on the published literature and on our own experiences in the imaging of lissencephalies with ultrasound (US), computed tomography (CT) and magnetic resonance imaging (MRI) we propose a strategy for the use of the different methods depending on the clinical symptoms and the age of the patient.
Gerhard Schuierer, Gerd Kurlemann, H. J. v. Lengerke   +2 more
openaire   +3 more sources

The genetics of lissencephaly

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years.
Thomas D. Cushion, Daniela T. Pilz, Andrew E. Fry   +2 more
openaire   +3 more sources

Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1

Neuropediatrics, 2021
de ...
B. Bölsterli, K. Steindl, R. Kottke, R. Steinfeld, E. Boltshauser   +4 more
semanticscholar   +1 more source

Prenatal diagnosis of lissencephaly

Prenatal Diagnosis, 1991
AbstractWe report two cases of prenatal detection of lissencephaly by high‐resolution ultrasound. The first case studied was referred for high‐risk obstetrical management and serial antenatal ultrasounds because of a family history of lissencephaly in an unresolved chromosomal abnormality.
Daniel H. Saltzman, Janet M. Goldman, Janet M. Goldman, Celeste M. Krauss, Celeste M. Krauss, Beryl R. Benacerraf, Beryl R. Benacerraf   +6 more
openaire   +5 more sources

Ocular findings in lissencephaly

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2003
To report our retrospective study of 20 cases with lissencephaly and describe ocular and visual abnormalities associated with this disorder.Patients with lissencephaly were identified and classified into classic (type I) or cobblestone (type 2) lissencephaly on the basis of a review of clinical records and neuroimaging studies.
Alex A Levin, Eedy Mezer, J. Raymond Buncic, Naeem U Nabi, Susan Blaser   +4 more
openaire   +3 more sources

The Neurogenetics of Lissencephaly

Neurologic Clinics, 1989
A comprehensive approach to diagnosis of patients with lissencephaly using clinical, CT and MRI scan, and sometimes other laboratory data will allow a specific diagnosis to be made in a large majority of patients. The most common diagnoses in order of decreasing frequency will probably prove to be WWS, MDS, and ILS.
openaire   +3 more sources

Sonographic diagnosis of lissencephaly

Pediatric Radiology, 1987
Lissencephaly, a developmental malformation characterized by absence of sulci, may be suggested in dysmorphic or epileptic infants. Real time ultrasonographic findings correlated with typical electroencephalographic abnormalities establish the diagnosis.
P. Morville, H. Gomes, M. Cymbalista, Jacques Motte   +3 more
openaire   +3 more sources

Epidemiology of Lissencephaly Type I

Neuroepidemiology, 1991
In a cooperative study in The Netherlands 22 patients with lissencephaly type I were collected. In the period 1980-1988, the prevalence of lissencephaly type I in the Netherlands was 11.7 per million births (12.2 for females and 11.0 for males). The 5-year survival rate of patients with a complete or nearly complete agyria (grade 1 or 2) in this study ...
A. Staal, W. F. M. Arts, M. F. Niermeijer, Albert Hofman, J.F. de Rijk-van Andel   +4 more
openaire   +3 more sources

Reelin and Lissencephaly

2008
The development of the human cerebral cortex is a dynamic process that can be divided into partially overlapping stages occurring during several gestational weeks (Barkovich et al., 2005). Migration of postmitotic neurons from the ventricular zone to form the cortical plate comprises one of the most critical stages in brain development.
Renzo Guerrini, Elena Parrini
openaire   +2 more sources

Causal heterogeneity in isolated lissencephaly

Neurology, 1992
We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal.
David H. Ledbetter, William B. Dobyns, Ellen R. Elias, A. C. Newlin, Roberta A Pagon   +4 more
openaire   +3 more sources