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Search Results to William B. Dobyns

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One or more keywords matched the following items that are connected to Dobyns, William

Item TypeName
Concept Chromosome Banding
Concept Chromosome Fragility
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 6
Concept Chromosomes, Human, Pair 1
Concept Chromosomes, Human, Pair 15
Concept Chromosomes, Human, Pair 21
Concept Chromosomes, Human, Pair 3
Concept Chromosomes, Human, Pair 14
Concept Chromosome Deletion
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 22
Concept Chromosomes, Human, Pair 4
Concept Chromosomes, Human, Pair 5
Concept Chromosomes, Human, Pair 7
Concept Chromosomes, Human, Pair 10
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 19
Concept Chromosomes, Human, Pair 9
Concept Chromosome Inversion
Concept Chromosome Segregation
Concept Sex Chromosome Disorders
Concept Sex Chromosome Aberrations
Concept X Chromosome Inactivation
Concept Chromosome Disorders
Concept Chromosome Duplication
Concept Chromosome Aberrations
Concept Chromosomes, Human, Pair 16
Concept X Chromosome
Concept Chromosome Breakage
Concept Physical Chromosome Mapping
Academic Article Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Academic Article "Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
Academic Article Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
Academic Article Recurrent 16p11.2 microdeletions in autism.
Academic Article Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Academic Article Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
Academic Article Association and mutation analyses of 16p11.2 autism candidate genes.
Academic Article The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
Academic Article Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Academic Article The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Academic Article Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
Academic Article Clinical and molecular diagnosis of Miller-Dieker syndrome.
Academic Article Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3.
Academic Article 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.
Academic Article Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Academic Article Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.
Academic Article A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome.
Academic Article Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Academic Article Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.
Academic Article Familial pericentric and paracentric inversions of chromosome 1.
Academic Article Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.
Academic Article Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article WDR62 is associated with the spindle pole and is mutated in human microcephaly.
Academic Article Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Academic Article Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Academic Article Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.
Academic Article Identification of genomic loci contributing to agenesis of the corpus callosum.
Academic Article Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Academic Article Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Academic Article Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
Academic Article Clinical nosologic and genetic aspects of Joubert and related syndromes.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Academic Article X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.
Academic Article A classification scheme for malformations of cortical development.
Academic Article Absence makes the search grow longer.
Academic Article Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.
Academic Article Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.
Academic Article The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Academic Article Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
Academic Article Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.
Academic Article Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Academic Article Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
Academic Article Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Academic Article Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
Academic Article X-linked malformations of neuronal migration.
Academic Article Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.
Academic Article Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Academic Article Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.
Academic Article Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Academic Article Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Academic Article Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations.
Academic Article FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.
Academic Article Miller-Dieker syndrome: lissencephaly and monosomy 17p.
Academic Article A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.
Academic Article Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
Academic Article Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.
Academic Article Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Academic Article Lissencephaly and other malformations of cortical development: 1995 update.
Academic Article New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.
Academic Article Cerebellar ataxia with progressive improvement.
Academic Article AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Academic Article Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.
Academic Article Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Academic Article 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.
Academic Article The neurogenetics of lissencephaly.
Academic Article Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Academic Article Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Academic Article Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.
Academic Article Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.
Academic Article Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Academic Article The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.
Academic Article Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Academic Article The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.
Academic Article Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
Academic Article A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation.
Academic Article Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome.
Academic Article Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Academic Article Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.
Academic Article Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.
Academic Article Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Academic Article The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia.
Academic Article A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Academic Article Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
Academic Article Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
Academic Article Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Academic Article Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects.
Academic Article Lissencephaly and the molecular basis of neuronal migration.
Academic Article Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Academic Article Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.
Academic Article Diagnostic criteria for Walker-Warburg syndrome.
Academic Article X-linked malformations of cortical development.
Academic Article Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.
Academic Article 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.
Academic Article A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Academic Article Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
Academic Article Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.
Academic Article Duplication 2p16 is associated with perisylvian polymicrogyria.
Academic Article Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

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