R
Robert J. Shprintzen
Researcher at State University of New York Upstate Medical University
Publications - 143
Citations - 12714
Robert J. Shprintzen is an academic researcher from State University of New York Upstate Medical University. The author has contributed to research in topics: Velopharyngeal insufficiency & DiGeorge syndrome. The author has an hindex of 55, co-authored 142 publications receiving 12338 citations. Previous affiliations of Robert J. Shprintzen include University of Alabama at Birmingham & Albert Einstein College of Medicine.
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Journal ArticleDOI
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11
Maria Karayiorgou,M A Morris,Bernice E. Morrow,Robert J. Shprintzen,Rosalie Goldberg,Julian Borrow,A Gos,Gerald Nestadt,Paula S. Wolyniec,Virginia K. Lasseter +9 more
TL;DR: The results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia.
Journal Article
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.
Robert J. Shprintzen,Rosalie Goldberg,Michael L. Lewin,Eugene J. Sidoti,Milton D. Berkman,Ravelo V. Argamaso,Dennison Young +6 more
TL;DR: A pattern of similarities among 12 patients is described which is felt to represent a newly recognized congenital malformation syndrome and the symptoms shown most consistently by the 12 patients were overt or submuscous clefts of the secondary palate, ventricular septal defects, typical facies, and learning disabilities.
Journal ArticleDOI
Velo-Cardio-Facial Syndrome: 30 Years of Study
TL;DR: The risk for severe psychiatric illness is 25 times higher for people affected with velo-cardio-facial syndrome than that of the general population, and interest in understanding the nature of psychiatric illness in the syndrome remains strong.
Journal ArticleDOI
Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives
Ann E. Pulver,Gerald Nestadt,Rosalie Goldberg,Robert J. Shprintzen,Malgorzata Lamacz,Paula S. Wolyniec,Bernice E. Morrow,Maria Karayiorgou,Stylianos E. Antonarakis,David E. Housman,Raju Kucherlapati +10 more
Journal ArticleDOI
A Common Molecular Basis for Rearrangement Disorders on Chromosome 22q11
Lisa Edelmann,Raj K. Pandita,Elizabeth Spiteri,Birgit Funke,Rosalie Goldberg,Nallasivam Palanisamy,R. S. K. Chaganti,Ellen Magenis,Robert J. Shprintzen,Bernice E. Morrow +9 more
TL;DR: Models are presented to explain how the LCR22s can mediate different homologous recombination events, thereby generating a number of rearrangements that are associated with congenital anomaly disorders.