-John C Carey Researcher Activity Profile

Research Author Detailed Information 

John C Carey Publication Rate By Year

John C Carey has published 1 paper(s) in 1997, 2 paper(s) in 2006, 18 paper(s) in 2007, 8 paper(s) in 2008, for a total of 29 research publications in total.

John C Jc Carey Author Information

LAST NAME: carey

FIRST NAME: John C

INITIALS: jc

AFFILIATION:

Papers

John C Carey's Publication Record

1. A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Year Published: 2006
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.
2. Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12. Year Published: 2006
Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. steven.bleyl@hsc.utah.edu
3. Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA. mfeldkamp@utah.gov
4. The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1. Year Published: 2007
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.
5. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132-2117, USA. sarah.south@hsc.utah.edu
6. A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
7. P27.15: Unusual prenatal presentation of twin reversed arterial perfusion sequence: 'acardiac' with a heart. Year Published: 2007
University of Utah, United States.
8. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
9. Status of the human malformation map: 2007. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah.
10. Introductory comments: M. Michael Cohen Jr. Festschrift. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah.
11. Status of the human malformation map: 2007. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. john.carey@hsc.utah.edu
12. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132. steven.bleyl@hsc.utah.edu
13. Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132-2117, USA. sarah.south@hsc.utah.edu
14. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Year Published: 2007
[1] 1Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA [2] 4ARUP Laboratories, Salt Lake City, UT, USA.
15. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132. steven.bleyl@hsc.utah.edu
16. Status of the human malformation map: 2007. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA. john.carey@hsc.utah.edu
17. A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.
18. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Year Published: 2007
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132. steven.bleyl@hsc.utah.edu
19. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Year Published: 2007
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. sarah.south@hsc.utah.edu
20. "Where observation is concerned, chance favors only the prepared mind". Year Published: 2008
Dr. Carey is Professor and Vice Chair in the Department of Pediatrics at the University of Utah Health Sciences Center, Salt Lake City, Utah; e-mail: john.carey@hsc.utah.edu.
21. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Year Published: 2008
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy. abattaglia@inpe.unipi.it.
22. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Year Published: 2008
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy. abattaglia@inpe.unipi.it
23. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Year Published: 2007
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA. sarah.south@hsc.utah.edu
24. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Year Published: 2008
Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy. abattaglia@inpe.unipi.it
25. Large vestibular aqueduct syndrome: a genetic disease? Year Published: 1997
Department of Medical Imaging, Royal University Hospital, University of Saskatchewan, Saskatoon, Canada.
26. "Where observation is concerned, chance favors only the prepared mind". Year Published: 2008
27. Clarification of previously reported Costello syndrome patients. Year Published: 2008
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
28. Principles and practice of teratology for the obstetrician. Year Published: 2008
Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah 84132, USA. barbra.fisher@hsc.utah.edu
29. Clarification of previously reported Costello syndrome patients. Year Published: 2008