Results 111 to 120 of about 97,105 (315)

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

H46 Segmental Hypoplasia, Retinal-Nasal Hypoplasia

, 1969
Nasal hypoplasia with suspected nasal pit about 3:00. Right eye. Man with temporal sector field defect. Same patient as H_47. Anatomy: Optic disc. Pathology: Nasal segmental disc hypoplasia.
William F. Hoyt, MD
core  

Optic Nerve Hypoplasia

, 2020
This is an illustrated guide to the clinical diagnosis of optic nerve hypoplasia. Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly, with an estimated incidence of 1 in 2287 live births.
Rahul A. Sharma, MD, MPH; Valérie Biousse, MD
core  

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

Epileptic Disorders, EarlyView.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer, B. Johnsen, V. S. Hansen, E. Qerama, T. S. Engedal   +4 more
wiley   +1 more source

H43 Segmental Hypoplasia, Retinal, Nasal Hypoplasia

, 1980
Nasal hypoplasia barely perceptible on disc. Nasal retinal nerve fibers are completely absent from 7:00 - 12:00. Anaotmy: Optic disc. Pathology: Nasal segmental disc hypoplasia. Disease/ Diagnosis: Congenital anomaly.Hoyt ref # 106: Buchanan and Hoyt. Br
William F. Hoyt, MD
core  

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft

, 2016
Tomoko Miyake,1 Shota Kojima,1 Tetsuya Sugiyama,2 Mari Ueki,1 Jun Sugasawa,1 Hidehiro Oku,1 Kensuke Tajiri,1 Yuka Shigemura,3 Koichi Ueda,3 Atsuko Harada,4 Mami Yamasaki,4 Takumi Yamanaka,4 Hidetsuna Utsunomiya,5 Tsunehiko Ikeda1 1Department of ...
Shigemura Y, Kojima S, Yamanaka T, Sugasawa J, Oku H, Yamasaki M, Ikeda T, Ueda K, Tajiri K, Sugiyama T, Ueki M, Utsunomiya H, Harada A, Miyake T   +13 more
core  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source