J C Carey

Summary

Affiliation: University of Utah
Country: USA

Publications

  1. doi request reprint The importance of case reports in advancing scientific knowledge of rare diseases
    John C Carey
    Department of Pediatrics, The University of Utah, Salt Lake City, UT 84108, USA
    Adv Exp Med Biol 686:77-86. 2010
  2. ncbi request reprint Significance of case reports in the advancement of medical scientific knowledge
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2131-4. 2006
  3. doi request reprint Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance
    John C Carey
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Utah 84108, USA
    Curr Opin Pediatr 24:672-8. 2012
  4. pmc The trisomy 18 syndrome
    Anna Cereda
    Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM A O, S, Gerardo Monza, Italy
    Orphanet J Rare Dis 7:81. 2012
  5. ncbi request reprint Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders
    J C Carey
    Department of Pediatrics at the University of Utah Health Science Center in Salt Lake City 84132, USA
    Am J Med Genet 89:7-13. 1999
  6. doi request reprint Elements of morphology: standard terminology for the lips, mouth, and oral region
    John C Carey
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah 84108, USA
    Am J Med Genet A 149:77-92. 2009
  7. ncbi request reprint A tribute to Bryan D. Hall: Festschrift 2003
    John C Carey
    Deparment of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 123:1-4. 2003
  8. ncbi request reprint Introductory comments - special section: Prader-Willi syndrome
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:413-4. 2007
  9. ncbi request reprint Status of the human malformation map: 2007
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:2868-85. 2007
  10. doi request reprint Determination of human teratogenicity by the astute clinician method: review of illustrative agents and a proposal of guidelines
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Birth Defects Res A Clin Mol Teratol 85:63-8. 2009

Detail Information

Publications72

  1. doi request reprint The importance of case reports in advancing scientific knowledge of rare diseases
    John C Carey
    Department of Pediatrics, The University of Utah, Salt Lake City, UT 84108, USA
    Adv Exp Med Biol 686:77-86. 2010
    ..Future research on the importance of case reports in advancing knowledge of rare diseases is recommended...
  2. ncbi request reprint Significance of case reports in the advancement of medical scientific knowledge
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 140:2131-4. 2006
    ..The author proposed a classification system for case reports in the human genetics literature. More dialogue and research is needed to examine the role of case reports in the medical scientific literature...
  3. doi request reprint Perspectives on the care and management of infants with trisomy 18 and trisomy 13: striving for balance
    John C Carey
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Utah 84108, USA
    Curr Opin Pediatr 24:672-8. 2012
    ..In recent years, an active dialogue on this topic has emerged. The purpose of this review is to summarize the literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this emerging dialogue...
  4. pmc The trisomy 18 syndrome
    Anna Cereda
    Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM A O, S, Gerardo Monza, Italy
    Orphanet J Rare Dis 7:81. 2012
    ..Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations...
  5. ncbi request reprint Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders
    J C Carey
    Department of Pediatrics at the University of Utah Health Science Center in Salt Lake City 84132, USA
    Am J Med Genet 89:7-13. 1999
    ..In this article we summarize the current knowledge of genotype/phenotype correlation in NF1 and examine the potential molecular basis for variable expressivity. Am. J. Med. Genet. (Semin. Med. Genet.) 89:7-13, 1999...
  6. doi request reprint Elements of morphology: standard terminology for the lips, mouth, and oral region
    John C Carey
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah 84108, USA
    Am J Med Genet A 149:77-92. 2009
    ..Here we summarize the anatomy of the oral region and define and illustrate the terms that describe the major characteristics of the lips and mouth...
  7. ncbi request reprint A tribute to Bryan D. Hall: Festschrift 2003
    John C Carey
    Deparment of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 123:1-4. 2003
  8. ncbi request reprint Introductory comments - special section: Prader-Willi syndrome
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:413-4. 2007
  9. ncbi request reprint Status of the human malformation map: 2007
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 143:2868-85. 2007
    ..This recent progress makes an updating of the human malformation map timely and informative...
  10. doi request reprint Determination of human teratogenicity by the astute clinician method: review of illustrative agents and a proposal of guidelines
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Birth Defects Res A Clin Mol Teratol 85:63-8. 2009
    ..The purpose of this article is to review selected exposures with the goal of identifying principles that lead to a working proposal for the application of this approach...
  11. pmc Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome
    S B Bleyl
    Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, USA
    Am J Hum Genet 61:868-72. 1997
    ..This finding provides further structure-function information about the G4.5 gene product and has implications for unexplained cases of severe infantile hypertrophic cardiomyopathy in males...
  12. ncbi request reprint Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
    P A Krakowiak
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112 5330, USA
    Am J Med Genet 76:93-8. 1998
    ..A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome...
  13. pmc The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome
    M Bamshad
    Department of Pediatrics, Eccles Institute of Human Genetics, 15 North 2030 East, Room 2100, University of Utah, Salt Lake City, UT 84112 5330, USA
    Am J Hum Genet 64:1550-62. 1999
    ..We found no obvious phenotypic differences between those who have missense mutations and those who have deletions or frameshifts...
  14. pmc Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
    D A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Clin Genet 69:246-53. 2006
    ..We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS...
  15. ncbi request reprint The methodology of the Utah Birth Defect Network: congenital heart defects as an illustration
    Marcia Feldkamp
    University of Utah Health Sciences Center, Division of Medical Genetics, Salt Lake City, 84132, USA
    Birth Defects Res A Clin Mol Teratol 73:693-9. 2005
    ..All pregnancy outcomes are monitored statewide through intensive identification of potential cases using multiple reporting sources...
  16. pmc A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
    P A Krakowiak
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Am J Hum Genet 60:426-32. 1997
    ..5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B...
  17. pmc Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Pediatr Res 63:697-701. 2008
    ..The effects of NF1 haploinsufficiency likely contribute to abnormal bone remodeling, either directly or indirectly by aberrant Ras signaling, potentially predisposing NF1 individuals to localized skeletal defects...
  18. doi request reprint Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Am J Med Genet A 146:2691-7. 2008
    ....
  19. ncbi request reprint Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    Sarah T South
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA
    Eur J Hum Genet 16:45-52. 2008
    ..Analysis of clinical manifestations of each patient also revealed that patients with an unbalanced translocation often presented with exceptions to some expected phenotypes...
  20. pmc Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, 2C412 SOM, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    J Clin Endocrinol Metab 93:3443-8. 2008
    ..Patient age when skeletal problems first manifest generally predicts the clinical course, with perinatal HPP causing bone disease in utero with postnatal lethality...
  21. pmc Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:368-72. 2006
    ....
  22. pmc Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003
    Marcia L Feldkamp
    Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    BMJ 336:1420-3. 2008
    ..To assess the association between genitourinary infections in the month before conception to the end of the first trimesterand gastroschisis...
  23. pmc Bone mineral density in children and adolescents with neurofibromatosis type 1
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    J Pediatr 150:83-8. 2007
    ..To assess whether children and adolescents with neurofibromatosis type 1 (NF1) have decreased bone mineral density (BMD)...
  24. ncbi request reprint Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes
    Steven B Bleyl
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132
    Am J Med Genet A 143:2785-95. 2007
    ..Analysis of the Xq27.1 breakpoint localized it to a 90 kb interval 3' of the SOX3 gene, supporting a novel role of SOX3 misexpression in the development of Peters anomaly of the eye...
  25. ncbi request reprint Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation
    Sarah T South
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132 2117, USA
    Am J Med Genet A 143:2137-42. 2007
    ..These patients also emphasize the difficulty of mapping clinical manifestations common to many aneusomy syndromes...
  26. ncbi request reprint Analysis of a Scottish founder effect narrows the TAPVR-1 gene interval to chromosome 4q12
    Steven B Bleyl
    Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 140:2368-73. 2006
  27. doi request reprint Principles and practice of teratology for the obstetrician
    Barbra Fisher
    Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah 84132, USA
    Clin Obstet Gynecol 51:106-18. 2008
    ..Common clinical problems of counseling patients about potential teratogenic risks in pregnancy are presented and principles of teratogenicity assessment...
  28. ncbi request reprint Status of the human malformation map: 2002
    John C Carey
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Science Center, Salt Lake City, UT 84132, USA
    Am J Med Genet 115:205-20. 2002
  29. pmc Analysis of radiographic characteristics of anterolateral bowing of the leg before fracture in neurofibromatosis type 1
    David A Stevenson
    Shriners Hospitals for Children, Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Pediatr Orthop 29:385-92. 2009
    ..Anterolateral leg bowing is associated with neurofibromatosis type 1 (NF1) frequently leading to fracture and nonunion of the tibia. The objective of the study was to characterize the radiographic findings of tibial dysplasia in NF1...
  30. ncbi request reprint Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening
    Karin M Dent
    Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA
    Am J Med Genet C Semin Med Genet 125:28-34. 2004
    ..The results of this study will facilitate the incorporation of genetic services into EHDI programs...
  31. ncbi request reprint 6q subtelomeric deletion: is there a recognizable syndrome?
    David A Stevenson
    Department of Pediatrics, Divisions of Medical Genetic and Neurology, University of Utah, Salt Lake City, Utah, USA
    Clin Dysmorphol 13:103-6. 2004
    ..Subtelomeric FISH probes were useful in establishing a diagnosis in our patient. As more cases are reported, we may be able to establish discrete phenotypes and natural histories that can aid in counselling families...
  32. ncbi request reprint Contribution of malformations and genetic disorders to mortality in a children's hospital
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 126:393-7. 2004
    ..This information emphasizes the importance of further study of whether or not early recognition influences mortality rate and management...
  33. pmc Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, SLC, UT 84132, USA
    Bone 44:585-9. 2009
    ..The objective of the study is to determine if the geometry of the lower limb in individuals with neurofibromatosis type 1 (NF1) differs from controls, and to characterize the osseous components of the tibia in NF1...
  34. pmc Double inactivation of NF1 in tibial pseudarthrosis
    David A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA
    Am J Hum Genet 79:143-8. 2006
    ..These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1...
  35. doi request reprint A case control population-based study investigating smoking as a risk factor for gastroschisis in Utah, 1997-2005
    Marcia L Feldkamp
    Department of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Birth Defects Res A Clin Mol Teratol 82:768-75. 2008
    ..We assessed whether smoking increases the risk for gastroschisis using population-based data from Utah...
  36. pmc Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N Medical Drive, Salt Lake City, UT 84132, USA
    Am J Med Genet C Semin Med Genet 151:255-60. 2009
    ..While traditional clinical outcomes are important, these newly developed instruments should be considered along with clinical indicators as measures of effect in clinical trials of interventions in genetic disorders...
  37. pmc Bone resorption in syndromes of the Ras/MAPK pathway
    D A Stevenson
    Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
    Clin Genet 80:566-73. 2011
    ..0001) in all three conditions compared to controls suggesting that collagen degradation was predominantly from bone. The data suggest that the Ras/MAPK signal transduction pathway is important in bone homeostasis...
  38. ncbi request reprint Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review
    W L Flejter
    Department of Pediatrics, University of Utah, Salt Lake City 84132, USA
    Am J Med Genet 75:45-51. 1998
    ..Together, these studies support the notion that a recessive mitotic mutant may be responsible for the chromosomal mosaicism and for the resulting clinical phenotype...
  39. pmc A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Am J Hum Genet 79:935-41. 2006
    ..R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth...
  40. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  41. ncbi request reprint Decreasing prevalence of neural tube defects in Utah, 1985-2000
    Marcia Feldkamp
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Teratology 66:S23-8. 2002
    ..Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000...
  42. ncbi request reprint 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    J Pediatr 145:840-2. 2004
    ..Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray...
  43. ncbi request reprint Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development
    B J Baty
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84132, USA
    Am J Med Genet 99:210-6. 2001
    ..This is the first report of a hypopigmented pigmentary dysplasia associated with isolated trisomy 20 mosaicism. Our patients are the oldest reported children with trisomy 20 mosaicism confirmed after birth...
  44. ncbi request reprint Pure trisomy 10p resulting from an extra ring chromosome: characterization by methods of advanced molecular cytogenetics
    Z Chen
    Cytogenetics Laboratory, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Am J Med Genet 102:379-82. 2001
    ..Pure trisomy 10p is rare. This case will further delineate those features associated with trisomy 10p...
  45. ncbi request reprint Wolf-Hirschhorn syndrome and a split-hand malformation
    M Bamshad
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Am J Med Genet 75:351-4. 1998
    ..We present the clinical findings of an infant with WHS and SHFM and suggest that the presence of additional loci on 4p which modify/cause SHFM cannot be excluded...
  46. ncbi request reprint Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography
    D A Stevenson
    Department of Paediatrics, University of Utah, Salt Lake City, UT 84132, USA
    J Musculoskelet Neuronal Interact 5:145-9. 2005
    ..001], and decreased Stress Strain Index [p=0.010]. These data indicate that NF1 individuals have decreased muscle cross-sectional area and decreased bone strength than individuals without NF1...
  47. pmc A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9
    M Bamshad
    Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84132 1001
    Am J Hum Genet 55:1153-8. 1994
    ..Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped...
  48. ncbi request reprint Clinical characteristics and natural history of Freeman-Sheldon syndrome
    David A Stevenson
    Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Pediatrics 117:754-62. 2006
    ..The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS...
  49. pmc The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Genet Med 9:409-12. 2007
    ..Clarification of this diagnostic criterion is important for the clinician and for research protocols. Appropriate interpretation will improve understanding of the natural history and pathophysiology of neurofibromatosis type 1...
  50. ncbi request reprint Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
    Nat Genet 38:561-5. 2006
    ..Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders...
  51. ncbi request reprint Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
    K A Przylepa
    Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Nat Genet 13:492-4. 1996
    ..In two patients, neither of these mutations were found suggesting further genetic heterogeneity...
  52. ncbi request reprint Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals
    S B Bleyl
    Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, USA
    Am J Med Genet 72:257-65. 1997
    ..Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located...
  53. ncbi request reprint A survey of pregnant women using isotretinoin
    Julia Robertson
    Utah Department of Health, Division of Community and Family Health Services, Birth Defects and Genetics Program, Pregnancy RiskLine, Salt Lake City, 84114 4691, USA
    Birth Defects Res A Clin Mol Teratol 73:881-7. 2005
    ..Isotretinoin is a known human teratogen, causing birth defects and/or subnormal cognitive performance in prenatally-exposed children...
  54. pmc Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
    Sandy S Sung
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84112, USA
    Am J Hum Genet 72:681-90. 2003
    ..This provides a new opportunity to directly study the etiology and pathogenesis of multiple-congenital-contracture syndromes...
  55. pmc Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases
    Attila Kumanovics
    Department of Pathology, Human Genetics, University of Utah School of Medicine and the Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    J Mol Diagn 12:213-9. 2010
    ....
  56. pmc A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 143:2221-6. 2007
    ..We propose that the distinct pattern in these sisters constitutes a previously undescribed syndrome of likely autosomal recessive inheritance...
  57. ncbi request reprint Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research
    Marcia L Feldkamp
    Department of Pediatrics, Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Am J Med Genet A 143:639-52. 2007
    ..This hypothesis potentially explains the origin of gastroschisis as well as that of other developmental defects of the ventral wall...
  58. ncbi request reprint Editor's note: regarding correspondence on CFC syndrome and interstitial 12q deletions
    John C Carey
    Am J Med Genet A 116:413. 2003
  59. ncbi request reprint Toriello-Carey syndrome: delineation and review
    Helga V Toriello
    Genetics Services, Spectrum Health, Grand Rapids, Michigan, USA
    Am J Med Genet A 123:84-90. 2003
    ..However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history...
  60. ncbi request reprint The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis
    John C Carey
    Am J Med Genet A 127:294-7. 2004
  61. ncbi request reprint Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2 56018 Calambrone, Pisa, Italy
    Brain Dev 27:362-4. 2005
    ..4p- syndrome is characterized by distinctive seizure and EEG patterns that facilitate the early diagnosis and management of such patients...
  62. ncbi request reprint CHARGE syndrome: 2005
    John C Carey
    Am J Med Genet A 133:227. 2005
  63. ncbi request reprint Neurofibromatosis type 1 is a genetic skeletal disorder
    David A Stevenson
    Am J Med Genet A 143:2082-3; author reply 2084. 2007
  64. doi request reprint Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...
  65. ncbi request reprint Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
    Ian D Krantz
    Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Nat Genet 36:631-5. 2004
    ..The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster...
  66. ncbi request reprint Etiologic yield of autistic spectrum disorders: a prospective study
    Agatino Battaglia
    University of Pisa, and Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Am J Med Genet C Semin Med Genet 142:3-7. 2006
    ....
  67. doi request reprint Clarification of previously reported Costello syndrome patients
    Angela E Lin
    Am J Med Genet A 146:940-3. 2008
  68. pmc Additional EFNB1 mutations in craniofrontonasal syndrome
    Deeann Wallis
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 3717, USA
    Am J Med Genet A 146:2008-12. 2008
  69. ncbi request reprint Diagnostic evaluation of developmental delay/mental retardation: An overview
    Agatino Battaglia
    Division of Pediatric Neurology and Psychiatry, Department of Procreative Medicine and Pediatrics, University of Pisa, Pisa, Italy
    Am J Med Genet C Semin Med Genet 117:3-14. 2003
    ..This review will focus on the most appropriate investigations shown to be, at present, necessary to define the etiology of DD/MR, in the context of recommendations for the clinical evaluation of the patient with undiagnosed MR...
  70. doi request reprint "Where observation is concerned, chance favors only the prepared mind"
    John C Carey
    Obstet Gynecol 111:479-80. 2008
  71. ncbi request reprint A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
    Girish V Putcha
    Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
    Genet Med 9:413-26. 2007
    ....
  72. doi request reprint Maternal exposure to statins and risk for birth defects: a case-series approach
    Emily E Petersen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    Am J Med Genet A 146:2701-5. 2008