Results 111 to 120 of about 11,012 (235)
Анналы клинической и экспериментальной неврологии, 2017 Clinical and morphological correlations in the group of corticaldysplasias accompanied by the development of an epilepticsyndrome were performed based on 50 autopsies.
O. A. Milovanova +6 more
doaj +1 more source
SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly
Congenital Anomalies, 2017 Holoprosencephaly (HPE) is failure of the forebrain to divide completely during embryogenesis. Incomplete penetrance has not been reported previously in SIX3 whole gene deletions, which are known to cause HPE.
B. Stokes +11 more
semanticscholar +1 more source
Holoprosencephaly in identical twin neonates: An extremely rare case report
Nigerian Journal of Paediatrics, 2021 Holoprosencephaly (HPE) is a rare congenital brain malformation which results from complete or incomplete separation of the forebrain and diencephalon or horizontal separation of the optic and olfactory structures. The septum pellucidum is always absent
Afolabi Oluniyi S +3 more
doaj
Archivos Argentinos de Pediatria, 2018 Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism.
Ozkan Ilhan +7 more
semanticscholar +1 more source
How to understand Holoprosencephaly
, 2016 Holoprosencephaly (HPE) is a group of complex structural malformations of the forebrain that results from complete or incomplete nonseparation of the prosencephalon that yields an incomplete division of the cerebral hemispheres and of the telencephalon ...
Alexandra Munteanu +2 more
core +1 more source
Journal of Developmental Biology, 2016 Recent studies revealed new insights into the development of a unique caudal forebrain-signaling center: the zona limitans intrathalamica (zli). The zli is the last brain signaling center to form and the first forebrain compartment to be established.
Elena Sena +2 more
doaj +1 more source
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly
Human Molecular Genetics, 2018 The utilization of next generation sequencing has been shown to accelerate gene discovery in human disease. However, our confidence in the correct disease-associations of rare variants continues to depend on functional analysis.
Sungkook Hong +4 more
semanticscholar +1 more source
Holoprosencephaly In A Nigerian Female: A Case Report [PDF]
, 2013 Backround: Holoprosencephaly is a complex intracranial abnormality with 3 ranges of severity: Lobar, semi-lobar and alobar. The clinical presentation with typical facial anomalies is unique. Imaging with USS, CT and MRI are useful diagnostic tools.
Abere, C, Agi, CE
core
Anterior Callosal Agenesis In Mild, Lobar Holoprosencephaly
, 1995 The corpus callosum normally grows in a ventral to dorsal direction with the genu appearing first followed by posterior growth to form the body and splenium.
Sener, Rn, Sener R.N.
core +1 more source
A male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria
Clinical Case ReportsKey Clinical Message This case of alobar holoprosencephaly and cyclopia emphasizes the value of prenatal check‐ups, particularly in low‐income countries.
Tala Dakkak +3 more
doaj +1 more source