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    • Robert J Shprintzen
    • 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 ...

       

       

      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

       

       

      Robert J Shprintzen: Influence Statistics

      Sample of concepts for which Robert J Shprintzen is among the top experts in the world.
      Concept World rank
      mild receptive delays #1
      aspects vcfs #1
      velofaringea #1
      parents daily habits #1
      report behavioral manifestations #1
      defect col11a1 locus #1
      apnea tracheostomy #1
      22q112ds deletion syndrome #1
      motor battery #1
      lateral pharyngeal #1
      tetralogy aortic arch #1
      autism idiopathic autism #1
      facioauriculovertebral sequence #1
      fluoroscopy vpi #1
      radiographic imaging arteries #1
      patients 28 cent #1
      speech multiview videofluoroscopy #1
      pulsations nasopharyngoscopy #1
      heart palate #1
      vélopharynéde #1
      familial digeorge sequence #1
      sedlacková syndrome #1
      speech ease evolution #1
      abnormal uvula #1
      youths vcfs #1
      temperament wechsler #1
      involves include ribcage #1
      pair 22 comorbidity #1
      clefts people #1
      evaluation velopharyngeal insufficiency #1
      vcfs idiopathic #1
      22 psychiatric disorders #1
      clinical designed #1
      wrong question agreement #1
      tonsils 20 cases #1
      symptoms vcfs #1
      palate cardiac #1
      val female17 #1
      nasopharyngoscopy submucosal #1
      neuromuscular diseases trauma #1
      relation morphologic characteristics #1
      upper airway asymmetry #1
      población estudiada #1
      genderratio comparable sample #1
      adenoidal closure #1
      twentythree 85 percent #1
      pathogenesis velopharyngeal insufficiency #1

       

      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 total of 64 markers. Eleven highly polymorphic short tandem-repeat polymorphic (STRP) markers were ...

      Known for 22q11 Deletions | Molecular Definition | Vcfs Patients | Yeast Chromosomes | Digeorge Syndrome
      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. To understand the molecular basis for chromosomal deletions, we defined the extent of the deletion, ...

      Known for 22q11 Deletions | Vcfs Patients | Facial Syndrome | Chromosome Deletion | Pair Human
      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 syndrome associated with 22q11 rearrangements. In order to determine whether there are particular ...

      Known for Chromosome 22q11 | Vcfs Dgs | Pair Human | Common Syndrome | Molecular Basis
      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 contribute to this phenotype. One attractive candidate gene is catechol-O-methyltransferase (COMT) because ...

      Known for Comt Polymorphism | Velo‐cardio‐facial Syndrome | Gender Interaction | Psychiatric Phenotype | Deleted Region
      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 WM microstructure. The goal of the current study was to characterize the WM microstructural ...

      Known for Unaffected Siblings | Deletion Syndrome | Wm Microstructure | White Matter | Psychiatric Disorders
      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 features described that involve essentially every organ and system. The syndrome has drawn considerable ...

      Known for Facial Syndrome | Situ Hybridization | 30 Years | Human Pair | Velo Cardio
      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 a role in the etiology of the phenotypes associated with the disorders. Using a cDNA selection ...

      Known for Clathrin Heavy | Chain Gene | Facial Syndrome | Situ Hybridization | Congenital Humans
      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 with either (VCFS) or idiopathic autism. Five groups of children ages 5-15 were included in the ...

      Known for Idiopathic Autism | Velocardiofacial Syndrome | Groups Children | Disorders Phenotype | Autistic Disorder
      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) muscle in patients with VCFS to determine whether a muscle abnormality exists that might contribute ...

      Known for Velocardiofacial Syndrome | Patients Vcfs | Spc Muscle | Age Range | Hypernasal Speech
      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 examined and monosomy for a region of 22q11 was found in all patients. The DNA probes used in this ...

      Known for Velo‐cardio‐facial Syndrome | Chromosome 22q11 | Patients Vcfs | Human Pair | Situ Hybridization
      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 and Schizophrenia for School-Age Children-Present and Lifetime version and several other parent ...

      Known for Velocardiofacial Syndrome | Depressive Disorder | Children Vcfs | Prevalence Rates | Attention Deficit
      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 phenotypic categories, congenital heart disease and cleft palate, have been proposed to have a common ...

      Known for Cleft Palate | Congenital Heart Disease | Human Pair | Velocardiofacial Syndrome | Retrospective Studies
      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 pathogenesis. Here, we report the results of cytogenetic and molecular studies of 15 VCFS patients. ...

      Known for Velo‐cardio‐facial Syndrome | Vcfs Patients | Cleft Palate | Learning Disabilities | Female Heart Defects

      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

      Robert J Shprintzen:Expert Impact

      Concepts for whichRobert J Shprintzenhas direct influence:Velocardiofacial syndrome,  Cleft palate,  Velo‐cardio‐facial syndrome,  Velopharyngeal insufficiency,  Facial syndrome,  Bifid uvula,  Learning disabilities,  Craniofacial morphology.

      Robert J Shprintzen:KOL impact

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


       

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      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

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