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Concept
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Pedigree
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Academic Article
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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
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Academic Article
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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Academic Article
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
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Academic Article
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
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Academic Article
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Recurrent 16p11.2 microdeletions in autism.
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Academic Article
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Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.
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Academic Article
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Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
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Academic Article
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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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Academic Article
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
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Academic Article
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Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
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Academic Article
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Familial hydrocephalus with normal cognition and distinctive radiological features.
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Academic Article
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
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Academic Article
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
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Academic Article
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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Academic Article
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AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).
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Academic Article
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Familial pericentric and paracentric inversions of chromosome 1.
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Academic Article
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Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
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Academic Article
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Microcephaly with simplified gyral pattern in six related children.
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Academic Article
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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Academic Article
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Rapid-onset dystonia-parkinsonism.
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Academic Article
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Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
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Academic Article
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.
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Academic Article
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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
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Academic Article
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X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
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Academic Article
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Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
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Academic Article
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Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
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Academic Article
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Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
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Academic Article
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Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
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Academic Article
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Cobblestone lissencephaly with normal eyes and muscle.
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Academic Article
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Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
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Academic Article
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Rapid-onset dystonia-parkinsonism in a second family.
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Academic Article
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Variable phenotype of rapid-onset dystonia-parkinsonism.
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Academic Article
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X-linked malformations of neuronal migration.
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Academic Article
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Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
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Academic Article
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
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Academic Article
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Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
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Academic Article
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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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Academic Article
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
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Academic Article
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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
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Academic Article
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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
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Academic Article
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Cerebellar ataxia with progressive improvement.
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Academic Article
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Valproate-induced liver failure in one of two siblings with Alpers disease.
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Academic Article
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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.
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Academic Article
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Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
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Academic Article
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A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
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Academic Article
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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
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Academic Article
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Copy number and sequence variants implicate APBA2 as an autism candidate gene.
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Academic Article
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Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.
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Academic Article
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Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
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Academic Article
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
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Academic Article
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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Academic Article
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Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism.
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Academic Article
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
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Academic Article
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
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Academic Article
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A locus for bilateral perisylvian polymicrogyria maps to Xq28.
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Academic Article
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
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Academic Article
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Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment.
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Academic Article
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Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
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Academic Article
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Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
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Academic Article
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
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Academic Article
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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.
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Academic Article
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Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
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Academic Article
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Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
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Academic Article
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A novel SIX3 mutation segregates with holoprosencephaly in a large family.
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Academic Article
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Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
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Academic Article
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Human mutations in integrator complex subunits link transcriptome integrity to brain development.
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Academic Article
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Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
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Academic Article
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Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
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Academic Article
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Primary brain calcification: an international study reporting novel variants and associated phenotypes.
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Academic Article
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
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Academic Article
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Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
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Academic Article
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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Academic Article
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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