Robert J Shprintzen: Influence Statistics

Robert J Shprintzen

Robert J Shprintzen

Inc. The Virtual Center for Velo‐Cardio‐Facial Syndrome Manlius New York | The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius | The Virtual Center for ...

Robert J Shprintzen: Expert Impact

Concepts for which Robert J Shprintzen has direct influence: Velocardiofacial syndrome , Cleft palate , Velo‐cardio‐facial syndrome , Velopharyngeal insufficiency , Facial syndrome , Bifid uvula , Learning disabilities .

Robert J Shprintzen: KOL impact

Concepts related to the work of other authors for which for which Robert J Shprintzen has influence: Cleft palate , Velocardiofacial syndrome , Velopharyngeal insufficiency , Human pair , Bipolar disorder , Situ hybridization , Robin sequence .

KOL Resume for Robert J Shprintzen

Year
2015

Inc. The Virtual Center for Velo‐Cardio‐Facial Syndrome Manlius New York

2014

The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius

2013

The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius, NY 13104, USA

2012

Department of Psychiatry and Behavioral Sciences, State University of New York at Upstate Medical University, Syracuse, NY, United States

The Virtual Center for Velo‐Cardio‐Facial Syndrome, Syracuse, New York

2011

Velo‐Cardio‐Facial Syndrome International Center, Department of Otolaryngology and Communication Science, SUNY Upstate Medical University, Syracuse, New York

2010

Department of Pediatrics, SUNY Upstate Medical University, Syracuse, New York, USA

State University of New York–Upstate Medical University

2009

Communication Disorder Unit, USA, Velo-Cardio-Facial Syndrome International Center, USA, Center for Genetic Communicative Impairment, USA

Ms. Sriharan is deputy director, Peter A. Silverman Centre for International Health, Mount Sinai Hospital, Toronto, Ontario, and a doctoral candidate at the University of Oxford, Oxford, England. Dr. Abdeen is director for Palestinian programs, CISEPO, and professor, AlQuds University, Jerusalem, Israel. Dr. Bojrab is president, American CISEPO, professor, Wayne State University School of Medicine and Oakland University School of Medicine, chairman of otolaryngology, William Beaumont Hospital, and director of skull base surgery, Providence Hospital Medical Center, Detroit, Michigan. Dr. David is section chief, division of cardiology, Providence Hospital Medical Center, Southfield, Michigan, and a founding member of American CISEPO. Dr. Elnasser is director for Jordanian programs, CISEPO, and professor, Jordan University of Science and Technology, Irbid, Jordan. Mr. Patterson is vice-chair, CISEPO, and telehealth coordinator, Baycrest Hospital, Toronto, Ontario. Dr. Shprintzen is director, Velo-Cardio-Facial Syndrome International Center, professor, UpState Medical University, Syracuse, New York, and a founding member of American CISEPO. Dr. Skinner is chair, CISEPO, and dean of Faculty of Health, York University, Toronto, Ontario. Dr. Roth is director for Israeli programs, CISEPO, Tel Aviv, Israel, and director, Centre for International Health, and chair of otolaryngology, Edith Wolfson Medical Centre, Holon, Israel. Dr. Noyek is the founder of CISEPO, director, Peter A. Silverman Centre for International Health, Mount Sinai Hospital, and professor, University of Toronto, Toronto, Ontario.

2008

Department of Otolaryngology and Communication Science, Velo‐Cardio‐Facial Syndrome International Center, State University of New York, Upstate Medical University, Syracuse, New York

VCFS International Center, Upstate Medical University, 725 Irving Ave., Suite 504, Syracuse, NY 13210

2007

Center for the Diagnosis, Treatment, and Study of Velo‐Cardio‐Facial Syndrome, Communication Disorder Unit, Department of Otolaryngology and Communication Sciences, State University of New York – Upstate Medical University, Syracuse, NY, USA

Department of Otolaryngology, SUNY Upstate Medical University, Syracuse, New York.

2006

Drs. Antshel, Fremont, Kates, and Mr. Dhamoon are with the Department of Psychiatry and Behavioral Sciences, Dr. Roizen is with the Department of Pediatrics, and Dr. Shprintzen and Ms. Higgins are with the Department of Otolaryngology and Communication Sciences, State University of New York Upstate Medical University, Syracuse; Dr. Kates is also with the Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore.

Department of Pediatrics, SUNY Upstate Medical University, Syracuse, New York

2005

State University of New York, Upstate Medical University, Syracuse, New York

a SUNY–Upstate Medical University , Syracuse, NY, USA

2003

From the Department of Otolaryngology–Head and Neck Surgery (Dr Zim), University of Southern California, Keck School of Medicine, Los Angeles; Departments of Otolaryngology–Head and Neck Surgery (Drs Kellman, Tatum, and Shprintzen) and Pathology (Dr Schelper) and Center for Outcomes Research and Evaluation (Dr Ploutz-Snyder), State University of New York, Upstate Medical University, Syracuse, NY.

Upstate Medical University, Jacobsen Hall 714, 750 East Adams Street, Syracuse, NY 13210, USA

2002

From the Division of Facial Plastic and Reconstructive Surgery, Departments of Otolaryngology and Pediatrics (Dr Tatum); the Division of Neuroradiology, Department of Radiology (Dr Chang); the Communication Disorder Unit (Ms Havkin); and the Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science (Dr Shprintzen), State University of New York Upstate Medical University, Syracuse.

Department of Otolaryngology, Communication Disorder Unit, and Pediatrics, Upstate Medical University, Syracuse, NY 13210, USA

2000

Department of Otolaryngology and Communication Science, Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA

Center for the Diagnosis, Treatment, and Study of Velo‐Cardio‐Facial Syndrome, State University of New York Upstate Medical University, 750 Adams St., Syracuse, NY 13210

1999

Centerforthe Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, State University of New York Health Science Center, New York, NY 13210, USA

1998

Center for Congenital Disorders Montefiore Medical Center Albert Einstein College of Medicine Bronx, NY

1997

Center for Craniofacial Disorders, Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, N.Y., USA

1996

Departments of Medicine, Psychiatry, Molecular Genetics, Pediatrics, Otolaryngology, and Plastic Surgery, Albert Einstein College of Medicine, Bronx, New York

Department of Psychiatry, Albert Einstein College of Medicine, Bronx, NY 10461, USA

Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY, U.S.A.

1995

The Center for Craniofacial Disorders and the Department of Plastic Surgery and Molecular Genetics, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx, NY

Fred Hutchinson Cancer Research Center, Seattle, WA 98104, USA.

Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, New York

1994

Center for Craniofacial Disorders of Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York.

1993

Department of Pediatrics, Craniofacial Center, Bronx, New York USA

The Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, New York

1992

Center for Craniofacial Disorders, Montefiore Medical Centre, Bronx, NY, U.S.A.

1991

Dr. Shprintzen is Director of the Center for Craniofacial Disorders, Montefiore Medical Center, and Professor of Plastic Surgery and Professor of Otolaryngology at the Albert Einstein College of Medicine, Bronx, New York.

Center for Craniofacial Disorders and Plastic Surgery and Otolaryngology, Montefiore Medical Centerand the Albert Einstein College of Medicine, Bronx, NY.

1989

Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.

1988

From the Center for Craniofacial Disorders and Departments of Plastic Surgery and Otolaryngology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.

Center for Craniofacial Disorders, Montefiore Medical Center, Bronx, NY

1987

Center for Craniofacial Disorders, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx, NY U.S.A.

1986

Medical Care Associates of Tulsa, USA

Albert Einstein College of Medicine

Department of Oral Biology, Dalhousie University, Halifax, Nova Scotia, Canada

1985

Bronx, NY

1982

Montefiore Hospital and Medical Center and Albert Einstein College of Medicine, Bronx, New York

Prominent publications by Robert J Shprintzen

KOL-Index: 11004 . Velo-cardio-facial syndrome (VCFS) is a common genetic disorder among individuals with cleft palate and is associated with hemizygous deletions in human chromosome 22q11. Toward the molecular definition of the deletions, we constructed a physical map of 22q11 in the form of overlapping YACs. The physical map covers > 9 cM of genetic distance, estimated to span 5 Mb of DNA, and contains a ...
Known for 22q11 Deletions | Molecular Definition | Vcfs Patients | Yeast Chromosomes
KOL-Index: 10211 . Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for a part of 22q11, suggesting that haploinsufficiency in this region is responsible for its etiology. Because most cases of VCFS are sporadic, portions of 22q11 may be prone to rearrangement. ...
Known for 22q11 Deletions | Vcfs Patients | Facial Syndrome | Chromosome Deletion
KOL-Index: 10199 . The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome, der() syndrome and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. VCFS/DGS is the most common ...
Known for Chromosome 22q11 | Vcfs Dgs | Pair Human | Common Syndrome
KOL-Index: 9984 . Caused by a microdeletion at the q11.2 locus of chromosome 22, velo-cardio-facial syndrome (also known as VCFS, 22q11 deletion syndrome, DiGeorge sequence, and conotruncal anomalies face syndrome) is associated with a distinctive physical, neurocognitive, and psychiatric phenotype. Increasing interest has centered on identifying the candidate genes within the deleted region that may ...
Known for Comt Polymorphism | Velo‐cardio‐facial Syndrome | Gender Interaction | Psychiatric Phenotype
KOL-Index: 9641 . BACKGROUND: Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the ...
Known for Unaffected Siblings | Deletion Syndrome | Wm Microstructure | White Matter
KOL-Index: 9405 . Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical ...
Known for Facial Syndrome | Situ Hybridization | 30 Years | Human Pair
KOL-Index: 9152 . Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among others. Eighty to eighty-five percent of VCFS/DGS patients are hemizygous for a portion of chromosome 22. It is likely that the genes encoded by this region play ...
Known for Clathrin Heavy | Chain Gene | Facial Syndrome | Situ Hybridization
KOL-Index: 9076 . At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS-affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children ...
Known for Idiopathic Autism | Velocardiofacial Syndrome | Groups Children | Disorders Phenotype
KOL-Index: 8956 . BACKGROUND: Velocardiofacial syndrome (VCFS) is one of the most common multiple anomaly syndromes in humans. Pharyngeal hypotonia, one of the most common findings in VCFS, contributes to hypernasal speech, which occurs in approximately 75% of individuals with VCFS. OBJECTIVE: To evaluate the thickness and histologic and histochemical properties of the superior pharyngeal constrictor (SPC) ...
Known for Velocardiofacial Syndrome | Patients Vcfs | Spc Muscle | Age Range
KOL-Index: 8946 . The velo-cardio-facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes have been shown to detect these deletions even in patients with apparently normal chromosomes. Twelve patients with VCFS were ...
Known for Velo‐cardio‐facial Syndrome | Chromosome 22q11 | Patients Vcfs | Human Pair
KOL-Index: 8939 . OBJECTIVE: To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS). METHOD: One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The Schedule for Affective Disorders ...
Known for Velocardiofacial Syndrome | Depressive Disorder | Children Vcfs | Prevalence Rates
KOL-Index: 8622 . OBJECTIVE: Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion of approximately 40 genes from one copy of chromosome 22. Expression of the syndrome is a variable combination of over 190 phenotypic characteristics. As of yet, little is known about how these phenotypes correlate with one another or whether there are predictable patterns of expression. Two of the most common ...
Known for Cleft Palate | Congenital Heart Disease | Human Pair | Velocardiofacial Syndrome
KOL-Index: 8479 . Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning disabilities and a typical facial appearance. Less frequently, VCFS patients have manifestations of the DiGeorge complex (DGC) including hypocalcemia, hypoplastic or absent lymphoid tissue and T-cell deficiency suggesting that these 2 conditions share a common ...
Known for Velo‐cardio‐facial Syndrome | Vcfs Patients | Cleft Palate | Learning Disabilities

Key People For Velocardiofacial Syndrome

Top KOLs in the world
#1
Robert J Shprintzen
velocardiofacial syndrome cleft palate velopharyngeal insufficiency
#2
Rosalie B Goldberg
cleft palate velocardiofacial syndrome ocular findings
#3
Elaine H Zackai
human pair deletion syndrome situ hybridization
#4
Beverly S Emanuel
human pair situ hybridization deletion syndrome
#5
Peter James Scambler
digeorge syndrome cystic fibrosis human pair
#6
Donna M McDonald‐McGinn
deletion syndrome human pair situ hybridization

Inc. The Virtual Center for Velo‐Cardio‐Facial Syndrome Manlius New York | The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius | The Virtual Center for Velo-Cardio-Facial Syndrome, Manlius, NY 13104, USA | The Virtual Center for VeloCardio-Fa