Direct Impact

Concepts for which Adria L Bodell has direct influence:

periventricular heterotopia
joubert syndrome
mental retardation
axonal decussation
bilateral frontoparietal polymicrogyria
postnatal microcephaly
radiological features

External impact

Concepts related to the work of other authors for which Adria L Bodell has influence:

basal lamina
pierre robin syndrome
mumps virus
skeletal muscle
biological roles
actin‐binding proteins
dictyostelium discoideum

Prominent publications by Adria L. Bodell

KOL-Index: 55 To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of ...
Known for
Seemingly Diverse Autism Mutations | Neural Activity | Homozygosity | Synaptic
KOL-Index: 43 Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication ...
Known for
Telomeric | X-Linked Flna | Lateral Ventricles | Heterotopia Chromosome
KOL-Index: 29 Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the range of abnormalities that could be caused by human GPR56 mutations and to establish diagnostic criteria for BFPP, we analyzed the GPR56 gene in a cohort of 29 patients ...
Known for
Gpr56 Gene | Distinctive Phenotype | Diagnostic Screening | Polymicrogyria Bilateral
KOL-Index: 24 Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families ...
Known for
Non-Consanguineous Parents | Coding Region Mutations | O-Mannosyl Transferase | Walker-Warburg Syndrome
KOL-Index: 18 Polymicrogyria is a common malformation of cortical development characterized by an excessive number of small gyri and abnormal cortical lamination. Multiple syndromes of region-specific bilateral symmetric polymicrogyria have been reported. We previously have described two families with bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive syndrome that we mapped to a locus ...
Known for
Bfpp Syndrome | Abnormal Cortical Lamination | Bilateral White Matter Signal | Chromosome 16q Locus
KOL-Index: 17 PURPOSE: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, ...
Known for
Syndrome Male | Periventricular
KOL-Index: 16 To further characterize the clinical, radiographic and chondro-osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal ...
Known for
Reserve Zone Chondrocytes | Characteristic Monkey Wrench | Swedish Key Appearance | Thumb
KOL-Index: 16 BACKGROUND: Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant inheritance pattern. OBJECTIVE: To classify cortical malformation syndromes associated with PH. METHODS: ...
Known for
Matter Nodules | Linkage Flna | Inheritance Pattern | Pedigrees Autosomal
KOL-Index: 16 Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding ...
Known for
Bilateral | Classical | Microcephaly | Filamin Mutations
KOL-Index: 13 Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles1,2,3,4,5,6,7,8,9. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' ...
Known for
Motor Behavioral Abnormalities | Superior Cerebellar Peduncles | Mirror | Congenital Brain Malformation

9Walsh Laboratory, Harvard Medical SchoolBoston, MD, USA

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