Disease: Miller-Dieker syndrome
- <em>Crk/Crkl</em> regulates early angiogenesis in mouse embryos by accelerating endothelial cell maturation
- <em>De novo</em> large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
- <em>PAFAH1B1</em> Gene Deletion-Associated Classic Lissencephaly and Infantile Spasms
- 17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization
- 17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
- A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
- A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat
- Aberrant sorting of hippocampal complex pyramidal cells in type I lissencephaly alters topological innervation
- Acquired dysgraphia in a girl with subcortical band heterotopia
- Acute Bowel Ischemia in a Premature Neonate with Miller-Dieker Syndrome and Anomalous Right Coronary Artery From the Pulmonary Artery
- Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome
- An action-concept processing advantage in a patient with a double motor cortex
- Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
- Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia
- Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report
- Apples and Potatoes
- Application of Interphase Fluorescent in Situ Hybridization: a Screening Tool for the Diagnosis of Microdeletion Syndrome
- Application of the BACs-on-Beads™ assay for rapid prenatal detection application of BoBs™ for PND of aneuploidies and microdeletions
- Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and develo
- BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes
- Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
- Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
- Biomechanical comparison of three fixation strategies for radial head fractures: a biomechanical study
- Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome
- Central-part laryngectomy after laryngotracheal separation to manage pharyngocutaneous fistula: A case report and retrospective analysis of 12 cases
- Clinical and neuroimaging findings in patients with lissencephaly/subcortical band heterotopia spectrum: a magnetic resonance conventional and diffusion tensor study
- Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience
- Crk Haploinsufficiency Is Associated with Intrauterine Growth Retardation and Severe Postnatal Growth Failure
- De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria
- Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia
- Double cortex syndrome in a male patient without lissencephaly
- Double inversion recovery MRI of subcortical band heterotopia and its variations
- Early detection and evolution of hypsarrhythmia in a patient with subcortical band heterotopia
- Early suppression of excitability in subcortical band heterotopia modifies epileptogenesis in rats
- Electroclinical Pattern and Epilepsy Evolution in an Infant with Miller-Dieker Syndrome
- Electrographic pattern recognition: A simple tool to predict clinical outcome in children with lissencephaly
- Emergence of non-canonical parvalbumin-containing interneurons in hippocampus of a murine model of type I lissencephaly
- Extended Glasgow Outcome Scale to Evaluate the Functional Impairment of Patients With Subcortical Band Heterotopia: A Multicentric Cross-sectional Study
- Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation
- Frequent Awakenings and Fits With Aerobics
- Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature
- Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome
- Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
- Genetic causes underlying grey matter heterotopia
- Hepatic loss of <em>Lissencephaly 1</em> (<em>Lis1</em>) induces fatty liver and accelerates liver tumorigenesis in mice
- Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report
- ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
- In vitro modeling for inherited neurological diseases using induced pluripotent stem cells: from 2D to organoid
- Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
- LIS1 interacts with CLIP170 to promote tumor growth and metastasis via the Cdc42 signaling pathway in salivary gland adenoid cystic carcinoma
- Lis1 relieves cytoplasmic dynein-1 autoinhibition by acting as a molecular wedge
- Lissencephaly
- Lissencephaly
- Lissencephaly with Congenital Hypothyroidism: A Case Report
- Lissencephaly: Update on diagnostics and clinical management
- Loss of Lgl1 Disrupts the Radial Glial Fiber-guided Cortical Neuronal Migration and Causes Subcortical Band Heterotopia in Mice
- MACF1, Involved in the 1p34.2p34.3 Microdeletion Syndrome, is Essential in Cortical Progenitor Polarity and Brain Integrity
- Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum
- Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
- Non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia: systematic review and illustrative case
- Novel lissencephaly-associated DCX variants in the C-terminal DCX domain affect microtubule binding and dynamics
- Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
- Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies
- Perampanel in lissencephaly-associated epilepsy
- Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <em>CEP85L</em> Gene: A Case Report and Refining of the Phenotypic Spectrum
- Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
- Prenatal diagnosis and genetic analysis of a fetus with Miller-Dieker syndrome
- Prenatal diagnosis of a fetus with Miller-Dieker syndrome
- Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China
- Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells
- Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray
- Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results
- Prenatal genetic analysis of a fetus with Miller-Dieker syndrome
- Quadruple Semitendinosus Graft Construct With Double Cortical Suspensory Fixation for Anterior Cruciate Ligament Reconstruction: A Biomechanical Study
- Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia
- Reply to: "Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLAN: The "Double Cortex Sign""
- Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond <em>Pafah1b1(Lis1)</em>, <em>Crk</em> and <em>Ywhae(14-3-3ε)</em>
- RETRACTED: Bahmad et al. Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report. <em>Diseases</em> 2022, <em>10</em>, 95
- RETRACTED: Bahmad et al. Histopathologic Findings Associated with Miller-Dieker Syndrome: An Autopsy Report. Diseases 2022, 10, 95
- Rpsa Signaling Regulates Cortical Neuronal Morphogenesis via Its Ligand, PEDF, and Plasma Membrane Interaction Partner, Itga6
- Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome
- Similar return to sport between double cortical button and docking techniques for ulnar collateral ligament reconstruction in baseball players
- Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia
- Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia
- Structures of human dynein in complex with the lissencephaly 1 protein, LIS1
- Subcortical band heterotopia disrupting white matter tracts
- Subcortical band heterotopia in a patient with phenylketonuria: Co-Existence or consequence?
- Subcortical Band Heterotopia Shows Increased Perfusion on Arterial Spin Labeling Maps
- Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign"
- Sustained seizure freedom with transcutaneous vagal nerve stimulation in drug-resistant epilepsy caused by subcortical band heterotopias
- T2-sequence with contrast inversion: diagnostic value in the investigation of gray matter heterotopias
- Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
- Teaching NeuroImages: Double cortex: Rare diagnosis in adulthood
- The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia
- The transcription factor Hypermethylated in Cancer 1 (Hic1) regulates neural crest migration via interaction with Wnt signaling
- Unusual presentation of acute encephalopathy with biphasic seizures and late reduced diffusion in Miller-Dieker syndrome
- YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse