Claire Bartolo

University of New Mexico — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

11h-index338citations16works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(11), RNA Research and Splicing(5), Virus-based gene therapy research(5), Cardiomyopathy and Myosin Studies(3), Neurogenetic and Muscular Disorders Research(3)

Publications16 total

Comparison of Capillary Electrophoresis and Polyacrylamide Gel Electrophoresis for the Evaluation of T and B Cell Clonality by Polymerase Chain Reaction
Diagnostic Molecular Pathology·2000· 49 cited
Molecular Diagnosis in Pediatric Acute Leukemias
Clinics in Laboratory Medicine·2000· 13 cited
Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
American Journal of Medical Genetics·1998· 42 cited
Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
American Journal of Medical Genetics·1998· 5 cited
Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsy.
PubMed·1998· 13 cited
Dystrophin expression in a Duchenne muscular dystrophy Patient with a frame shift deletion
Neurology·1997· 36 cited
A novel splice site mutation in a Becker muscular dystrophy patient.
Journal of Medical Genetics·1996· 14 citedOpen Access
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
Human Mutation·1996· 9 cited
Novel mutations and molecular mechanisms in muscular dystrophy patients /
OhioLink ETD Center (Ohio Library and Information Network)·1996Open Access
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient
Human Mutation·1996· 2 cited
A novelsplice site mutation ina Becker muscular dystrophy patient
1996
Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing
Human Mutation·1995· 19 cited
Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection
American Journal of Medical Genetics·1994· 27 cited
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
Human Molecular Genetics·1994· 11 cited
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient
Nature Genetics·1993· 79 cited
Exon 44 nonsense mutation in two-duchenne muscular dystrophy brothers detected by heteroduplex analysis
Human Mutation·1993· 19 cited

Frequent Co-authors

Thomas W. Prior(10), Pamela J. Snyder(9), Jerry R. Mendell(9), Arthur H.M. Burghes(8), Audrey C. Papp(7), Mary S. Sedra(7), Lorraine M. Western(3), David S. Viswanatha(2), Jerry R. Mendell(2), Thomas W. Prior(2), A C Papp(2), M S Sedra(2), Nike Beaubier(1), Amy P. Hart(1), Cheryl L. Willman(1), J. T. Kissel(1), Mark Luquette(1), Chang‐Yong Tsao(1), Richard T. Moxley(1), Gail D. Wenger(1)