Item Type | Name |
Concept
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Chromosomes, Human, Pair 11
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Concept
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Chromosomes, Human, Pair 2
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Concept
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Chromosomes, Human, Pair 6
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Concept
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Chromosomes, Human, Pair 1
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Concept
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Chromosomes, Human, Pair 15
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Concept
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Chromosomes, Human, Pair 21
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Concept
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Chromosomes, Human, Pair 3
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Concept
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Chromosomes, Human, Pair 14
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Concept
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Chromosomes, Human, 6-12 and X
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Concept
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Chromosomes, Human, Pair 22
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Chromosomes, Human, Pair 7
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Concept
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Chromosomes, Human, 16-18
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Chromosomes, Human, Pair 17
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Concept
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Chromosomes, Human, Pair 19
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, X
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Academic Article
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"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
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Academic Article
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Inheritance of most X-linked traits is not dominant or recessive, just X-linked.
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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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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
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Academic Article
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Association and mutation analyses of 16p11.2 autism candidate genes.
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Academic Article
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
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Academic Article
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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
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Academic Article
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Clinical and molecular diagnosis of Miller-Dieker syndrome.
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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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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.
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Academic Article
|
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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Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
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Academic Article
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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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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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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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Academic Article
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Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
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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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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
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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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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
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Academic Article
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Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
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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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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
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Academic Article
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Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
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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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Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
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Academic Article
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Absence makes the search grow longer.
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Academic Article
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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
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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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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant 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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Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
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Academic Article
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Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
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Academic Article
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Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
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Academic Article
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Periventricular nodular heterotopia with overlying polymicrogyria.
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Academic Article
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Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
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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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Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
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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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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
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Academic Article
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Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
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Academic Article
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Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
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Academic Article
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Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
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Academic Article
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FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
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Academic Article
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Miller-Dieker syndrome: lissencephaly and monosomy 17p.
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Academic Article
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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
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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
|
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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Lissencephaly and other malformations of cortical development: 1995 update.
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Academic Article
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New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
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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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The neurogenetics of lissencephaly.
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Academic Article
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Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
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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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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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Academic Article
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Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
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Academic Article
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A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
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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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Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
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Academic Article
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Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
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Academic Article
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The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
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Academic Article
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Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
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Academic Article
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Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
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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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Lissencephaly and the molecular basis of neuronal migration.
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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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Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
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Academic Article
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Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
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Academic Article
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Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.
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Academic Article
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Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
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Academic Article
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Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
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Academic Article
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Duplication 2p16 is associated with perisylvian polymicrogyria.
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