J
James A. Bartley
Researcher at University of Iowa Hospitals and Clinics
Publications - 7
Citations - 505
James A. Bartley is an academic researcher from University of Iowa Hospitals and Clinics. The author has contributed to research in topics: Gene & Phenotype. The author has an hindex of 6, co-authored 6 publications receiving 499 citations.
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Journal ArticleDOI
Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndrome
TL;DR: It is suggested that karyotype studies with banding techniques should be done in children with features of Beckwith-Wiedemann syndrome and developmental delay or retardation.
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Deletions of different segments of the long arm of chromosome 4.
Joyce A. Mitchell,Joyce A. Mitchell,Seymour Packman,William D. Loughman,Robert M. Fineman,Elaine H. Zackai,Shivanand R. Patil,Beverly S. Emanuel,James A. Bartley,James W. Hanson,John M. Opitz +10 more
TL;DR: The clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4.3 confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and further define the phenotype of that syndrome.
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Maternal hyperphenylalaninemia fetal effects
Anthony Lipson,Bruce Beuhler,James A. Bartley,David A. Walsh,John S. Yu,Mary T. O'Halloran,William S. Webster +6 more
TL;DR: Children of 11 mothers with untreated hyperphenylalaninemia had a pattern of malformation consisting of prenatal and postnatal growth retardation, microcephaly and central nervous system dysfunction, increased incidence of malformations, and a peculiar facial appearance.
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Medical Communication Behavior System. An interactional analysis system for medical interactions.
Mark L. Wolraich,Mark A. Albanese,Gerald L. Stone,Dolores Nesbitt,Elizabeth J. Thomson,James A. Shymansky,James A. Bartley,James W. Hanson +7 more
TL;DR: Results showed good interobserver reliability, and evidence of concurrent, construct, and predictive validity in the psychometric properties of the Medical Communication Behavior System.
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X -linked Progressive Cone Dystrophy: Clinical Characteristics of Affected Males and Female Carriers
TL;DR: In this article, the authors evaluated nine affected males and six female carriers from a four-generation family with X-linked cone dystrophy and found that as the affected males grew older, visual acuity deteriorated, central scotomas deepened, and macular changes became more prominent.