Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Jack H. Rubinstein"'
Autor:
Johannes G. Dauwerse, Lester Weiss, Howard M. Saal, Fred Petrij, Ruthann I. Blough, Jack H. Rubinstein, Athena Milatovich-Cherry
Publikováno v:
American Journal of Medical Genetics. 90:29-34
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3' region of the gene. In order to test t
Publikováno v:
Journal of Pediatric Orthopaedics. 18:508-511
Publikováno v:
Journal of Pediatric Orthopedics. 18:508-511
Twenty-five (3.4%) of 732 individuals with Rubinstein-Taybi syndrome were noted to have instability of the patellofemoral joint. We believe that this is in fact an underrepresentation of the true incidence, as we were able to identify only those pati
Publikováno v:
Journal of pediatric ophthalmology and strabismus. 32(4)
Information is reviewed on the ophthalmologic findings in 614 individuals with Rubinstein-Taybi syndrome (RTS): The data were collected from the world literature, from communication with colleagues and with families of individuals with RTS, and from
Autor:
Jack H. Rubinstein, Virchel E. Wood
Publikováno v:
Journal of Pediatric Orthopaedics. 19:603
A duplicated longitudinal bracketed epiphysis or the "kissing delta" phalanx is not well recognized in the world literature. This represents complex double-delta bones with a longitudinal epiphyseal bracket. This complex is composed of a back-to-back
Publikováno v:
American journal of diseases of children (1960). 135(1)
• Water intoxication with seizures secondary to excessive fluid ingestion occurred in four apparently healthy infants in two families; we also review five previously reported cases. (Am J Dis Child135:38-41, 1981)
Autor:
Hooshang Taybi, Jack H. Rubinstein
Publikováno v:
American journal of diseases of children (1960). 105
Although a large number of diseases, conditions, and syndromes associated with mental retardation have been described, it has been the discouraging experience of physicians dealing with retarded children that relatively few cases may be specifically
Autor:
Jack H. Rubinstein
Publikováno v:
Archives of Pediatrics & Adolescent Medicine. 128:424
Sir .—John Matsoukas, MD, in his letter to the editor in the December issue of theJournal(126:860, 1973) lays claim to the paternity of this syndrome on the basis of a "bibliographic certificate of birth."1 I have reviewed their evidence and wish t
Autor:
Jack H. Rubinstein
Publikováno v:
Archives of Pediatrics & Adolescent Medicine. 123:520
This computer based registry of private schools for 23 types of handicapping conditions in childhood is supposed to be updated annually by a supplement. The present issue covers 800 private schools in the United States. The information given for each