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ARTHUR S AYLSWORTH MD
MD
Pediatrics Physician
NPI: 1407944739Individual
Specialties, Licenses & Credentials
Pediatrics PhysicianPrimary
Pediatrics
Code: 208000000X
8911050(NC)
Research & Publications (20)
Clinical aspects of defects in the determination of laterality.
PMID 11471158·Am J Med Genet·2001
6-review
Characterization of the role of full-length CRMP3 and its calpain-cleaved product in inhibiting microtubule polymerization and neurite outgrowth.
PMID 19559021·Exp Cell Res·2009
7-preclinical
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PMID 19668335·PLoS One·2009
8-other
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
PMID 19597142·Proc Natl Acad Sci U S A·2009
8-other
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.
PMID 18843099·Neurology·2008
8-other
Maternal body mass index and lifestyle exposures and the risk of bilateral renal agenesis or hypoplasia: the National Birth Defects Prevention Study.
PMID 18835865·Am J Epidemiol·2008
4-observational
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
PMID 18553514·Am J Med Genet A·2008
8-other
Sustained up-regulation of semaphorin 3A, Neuropilin1, and doublecortin expression in ischemic mouse brain during long-term recovery.
PMID 18162177·Biochem Biophys Res Commun·2008
7-preclinical
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
PMID 17873649·Genet Med·2007
4-observational
Calpain cleavage of collapsin response mediator proteins in ischemic mouse brain.
PMID 17672855·Eur J Neurosci·2007
7-preclinical
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
PMID 17506107·Am J Med Genet A·2007
5-case
Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.
PMID 16645211·J Mol Diagn·2006
8-other
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.
PMID 16575195·Cytogenet Genome Res·2006
5-case
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
PMID 15831595·J Med Genet·2005
8-other
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
PMID 15739154·Am J Hum Genet·2005
8-other
Submicroscopic deletion 9(q34.3) and duplication 19(p13.3): identified by subtelomere specific FISH probes.
PMID 14755469·Am J Med Genet A·2004
5-case
Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports.
PMID 12707969·Am J Med Genet A·2003
8-other
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
PMID 12525544·J Med Genet·2003
8-other
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
PMID 12219090·Nat Genet·2002
7-preclinical
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.
PMID 12116207·Am J Med Genet·2002
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 101 MANNING DR
CHAPEL HILL, ND 27599 - Phone
- (919) 966-4131
Quick Facts
- NPI
- 1407944739
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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