J
James H. Tonsgard
Researcher at University of Chicago
Publications - 54
Citations - 2169
James H. Tonsgard is an academic researcher from University of Chicago. The author has contributed to research in topics: Neurofibromatosis & Reye Syndrome. The author has an hindex of 24, co-authored 53 publications receiving 1916 citations. Previous affiliations of James H. Tonsgard include Primary Children's Hospital & University of Vermont.
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Journal ArticleDOI
Clinical manifestations and management of neurofibromatosis type 1.
TL;DR: NF1 is an autosomal dominant disorder with variable expression that causes brain tumors and malignant peripheral nerve sheath tumors, and the complications include tumors of the peripheral nerves, nerve roots, and plexi.
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CT imaging in adults with neurofibromatosis-1 : Frequent asymptomatic plexiform lesions
TL;DR: The frequency of plexiform lesions and other tumors in NF-1 indicates that clinicians should monitor young adults carefully; however, imaging characteristics alone cannot reliably distinguish benign from malignant lesions.
Journal ArticleDOI
A novel disease with deficiency of mitochondrial very-long-chain Acyl-CoA dehydrogenase
Toshifumi Aoyama,Yasushi Uchida,Richard I. Kelley,Michael Marble,Karen Hofman,James H. Tonsgard,William J. Rhead,Takashi Hashimoto +7 more
TL;DR: Two patients with unidentified defects of fatty acid oxidation were found to have a novel disease, VLCAD deficiency, as judged from the results of very low palmitoyl-CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCad.
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.
Journal ArticleDOI
Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1.
David A. Stevenson,Patricia Birch,Jan M. Friedman,David Viskochil,Paolo Balestrazzi,Stefania Boni,Annegret Buske,Bruce R. Korf,Michihito Niimura,Eniko K. Pivnick,Elizabeth K. Schorry,M. Priscilla Short,Romano Tenconi,James H. Tonsgard,John C. Carey +14 more
TL;DR: Male gender may be a susceptibility factor for pseudarthrosis in NF1 and tibial bowing and a male predominance and no parent-of-origin effect is indicated.