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Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements
TLDR
It is shown that constitutionally acquired CGRs share similarities with cancer chromothripsis, which suggests similar mechanistic underpinnings in basic DNA metabolism operative throughout an organism's life cycle. Expand
Classification and definition of disorders causing hypertonia in childhood.
TLDR
The purpose of the workshop and this article are to define the terms "spasticity," "dystonia," and "rigidity" as they are used to describe clinical features of hypertonia in children to allow differentiation of clinical features even when more than 1 is present simultaneously. Expand
Recommendations for the use of botulinum toxin type A in the management of cerebral palsy.
TLDR
This paper represents an attempt, by a group of 15 experienced clinicians and scientists from a variety of disciplines, to arrive at a consensus and produce detailed recommendations as to appropriate patient selection and assessment, dosage, injection technique and outcome measurement. Expand
Renal lesion growth in children with tuberous sclerosis complex.
TLDR
Renal involvement in patients with tuberous sclerosis complex begins in infancy, and angiomyolipoma is the most common lesion (75%). Expand
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
TLDR
It is shown that patients with TSC2 mutations have significantly more hypomelanotic macules and learning disability in contrast to those with T SC1 mutations, findings not noted in previous studies. Expand
Reliability of the Tardieu Scale for assessing spasticity in children with cerebral palsy.
TLDR
Both parameters of the Tardieu Scale have excellent intrarater and interrater reliability when assessed at the elbow and ankle joints of children with CP, with no difference noted between visual and goniometric measurements. Expand
Schizencephaly: Correlations of clinical and radiologic features
TLDR
The presentation and outcome of children with schizencephaly are quite variable but are related to the extent of cortex involved in theschizencephalic defect, which was significantly more likely to be normal in those children with unilateral schizENCEphaly than in those with bilateral clefts. Expand
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
TLDR
The findings reveal the distribution of different mechanisms for genomic duplication rearrangements at a given locus, and provide insights into aspects of strand exchange events between paralogous sequences in the human genome. Expand
Movement Disorders in Children: Definitions, Classifications, and Grading Systems
TLDR
This review article addresses the major types of movement disorders that affect children, their clinical characteristics and etiologies, and, when available, the scales used to grade them. Expand
Middle interhemispheric variant of holoprosencephaly
TLDR
Similar to the lobar subtype by functional measures, MIH differs from classic HPE by the absence of endocrine dysfunction and choreoathetosis, and developmental functions were similar to the least severe classic type, lobar HPE. Expand
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