H Eugene Hoyme

Summary

Affiliation: Stanford University
Country: USA

Publications

  1. ncbi request reprint Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion
    Margaret P Adam
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 123:72-8. 2003
  2. ncbi request reprint Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization
    Joseph T C Shieh
    Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 140:1267-73. 2006
  3. pmc A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria
    H Eugene Hoyme
    Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Pediatrics 115:39-47. 2005
  4. pmc Fetal alcohol spectrum disorders: Extending the range of structural defects
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093 0828, USA
    Am J Med Genet A 152:2731-5. 2010
  5. doi request reprint Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA
    Am J Med Genet A 146:543-7. 2008
  6. ncbi request reprint 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
    Kristina Cusmano-Ozog
    Division of Medical Genetics, H 315, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Am J Med Genet C Semin Med Genet 145:393-8. 2007
  7. pmc Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, La Jolla, California 92093 0828, USA
    Birth Defects Res A Clin Mol Teratol 85:695-9. 2009
  8. ncbi request reprint Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
    Anita E Beck
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305 5323, USA
    Am J Med Genet A 134:359-62. 2005
  9. ncbi request reprint Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
    Susan R Hintz
    Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, California 94304, USA
    Mol Genet Metab 75:120-7. 2002
  10. ncbi request reprint Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
    Melanie A Manning
    Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Pediatrics 114:451-7. 2004

Detail Information

Publications35

  1. ncbi request reprint Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion
    Margaret P Adam
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 123:72-8. 2003
    ....
  2. ncbi request reprint Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization
    Joseph T C Shieh
    Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 140:1267-73. 2006
    ....
  3. pmc A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria
    H Eugene Hoyme
    Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Pediatrics 115:39-47. 2005
    ..Although both approaches have improved the clinical delineation of FASD, both suffer from significant drawbacks in their practical application in pediatric practice...
  4. pmc Fetal alcohol spectrum disorders: Extending the range of structural defects
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093 0828, USA
    Am J Med Genet A 152:2731-5. 2010
    ..Prenatal alcohol exposure may produce a broad spectrum of structural defects that goes beyond FAS with implications regarding the impact of alcohol on the developing fetus, a prerequisite for ultimate prevention of FASD...
  5. doi request reprint Progressive and symmetric supraorbital hyperostosis with bony and soft tissue overgrowth in an Ethiopian female: a newly recognized overgrowth syndrome?
    Margaret P Adam
    Department of Human Genetics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, Georgia 30030, USA
    Am J Med Genet A 146:543-7. 2008
    ..However, the bone began to regrow in a symmetric fashion within 3 months of removal. This patient's phenotype is at variance with any known overgrowth syndrome...
  6. ncbi request reprint 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
    Kristina Cusmano-Ozog
    Division of Medical Genetics, H 315, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Am J Med Genet C Semin Med Genet 145:393-8. 2007
    ....
  7. pmc Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, La Jolla, California 92093 0828, USA
    Birth Defects Res A Clin Mol Teratol 85:695-9. 2009
    ..The purpose of this study was to examine whether short palpebral fissures are independent of or determined by the OFC...
  8. ncbi request reprint Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?
    Anita E Beck
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305 5323, USA
    Am J Med Genet A 134:359-62. 2005
    ....
  9. ncbi request reprint Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
    Susan R Hintz
    Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, California 94304, USA
    Mol Genet Metab 75:120-7. 2002
    ..However, timely analysis and reporting of results to clinicians are essential, because these disorders can manifest in the first few days of life...
  10. ncbi request reprint Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
    Melanie A Manning
    Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Pediatrics 114:451-7. 2004
    ....
  11. ncbi request reprint Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancy
    Regina C Casper
    Division of Medical Genetics, Department of Pediatrics, Stanford University and Stanford University School of Medicine, Stanford, California 94305 5723, USA
    J Pediatr 142:402-8. 2003
    ..To compare the structural growth and developmental outcome of children born to mothers diagnosed with major depressive disorder during pregnancy who were exposed or not exposed to selective serotonin reuptake inhibitors (SSRIs) in utero...
  12. ncbi request reprint Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review
    Melanie A Manning
    Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 125:240-9. 2004
    ..Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS...
  13. ncbi request reprint Terminal deletion of 6p results in a recognizable phenotype
    Ruth J Lin
    Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA 94305, USA
    Am J Med Genet A 136:162-8. 2005
    ..Furthermore, individuals with this deletion should have an ophthalmologic exam, cardiac evaluation, head imaging, renal ultrasound, and formal hearing evaluation...
  14. ncbi request reprint Marinesco-Sjögren syndrome in a male with mild dysmorphism
    Anne Slavotinek
    Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, 533 Parnassus Street, San Francisco, CA 94143 0748, USA
    Am J Med Genet A 133:197-201. 2005
    ....
  15. doi request reprint Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature
    Andrea Kwan
    Division of Medical Genetics, Departments of Pediatrics and Genetics, Stanford University Medical Center, Stanford, California, USA
    Am J Med Genet A 158:2911-6. 2012
    ....
  16. doi request reprint Ectopia lentis as the presenting and primary feature in Marfan syndrome
    Neda Zadeh
    Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA
    Am J Med Genet A 155:2661-8. 2011
    ..Additionally, knowledge of the type and location of an FBN1 mutation may be useful in providing further clinical correlation regarding phenotypic progression and appropriate medical management...
  17. ncbi request reprint FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practice
    Ruth J Lin
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
    Adolesc Med 13:305-13, vi. 2002
    ..Such techniques have greatly expanded the diagnostic armamentarium available in the investigation of adolescents with mental retardation, malformations and many other disorders...
  18. ncbi request reprint A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders
    Jerome Blake
    Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, USA
    S D Med . 2013
    ..Finally, the evidence that autism is fundamentally a genetic disease is discussed, including family studies, the role of DNA copy number variation and known single gene mutations...
  19. ncbi request reprint Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome
    Joseph T C Shieh
    Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
    Am J Med Genet A 140:170-3. 2006
    ..The exact genetic abnormality underlying KS currently remains unknown...
  20. ncbi request reprint Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2)
    Joseph T C Shieh
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
    Pediatrics 118:e1485-92. 2006
    ..We sought to further characterize the phenotype and facilitate clinical recognition of systemic hyalinosis in children who present with chronic pain and progressive contractures in early childhood...
  21. ncbi request reprint Diagnosis and management of the adolescent boy with Klinefelter syndrome
    Melanie A Manning
    Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305 5208, USA
    Adolesc Med 13:367-74, viii. 2002
    ..Several manifestations of the syndrome, however, should be monitored during adolescence and require the primary care physician's attention...
  22. ncbi request reprint Athabascan brainstem dysgenesis syndrome
    Steve Holve
    Tuba City Indian Medical Center, Tuba City, Arizona 86045, USA
    Am J Med Genet A 120:169-73. 2003
    ..Recognition of children with some features of Athabascan brainstem dysgenesis syndrome should prompt investigation for other related abnormalities. Published 2003 Wiley-Liss, Inc...
  23. ncbi request reprint Alcohol consumption and other maternal risk factors for fetal alcohol syndrome among three distinct samples of women before, during, and after pregnancy: the risk is relative
    Philip A May
    Center on Alcoholism, Substance Abuse, and Addictions, University of New Mexico, 2650 Yale Boulevard SE, Suite 100, Albuquerque, NM 87106 3202, USA
    Am J Med Genet C Semin Med Genet 127:10-20. 2004
    ..Collecting extensive behavioral information as well as genetic histories will provide the requisite information for making an accurate diagnosis of FAS...
  24. 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...
  25. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  26. ncbi request reprint Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents
    Ilona Autti-Ramo
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 140:137-43. 2006
    ....
  27. ncbi request reprint Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients
    Robert L Conway
    Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 143:2981-3008. 2007
    ..One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM...
  28. ncbi request reprint Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disorders
    Nina Ervalahti
    Abo Akademi University, Turku, Finland
    Am J Med Genet A 143:2916-23. 2007
    ..Although the correlations are significant, the data suggest that in individual cases, the TDS cannot reliably predict cognitive function in later life...
  29. pmc The epidemiology of fetal alcohol syndrome and partial FAS in a South African community
    Philip A May
    Department of Sociology and Family and Community Medicine, The University of New Mexico, Center on Alcoholism, Substance Abuse and Addictions, 2650 Yale Blvd SE, Albuquerque, NM 87106, USA
    Drug Alcohol Depend 88:259-71. 2007
    ..The prevalence and characteristics of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (PFAS) were determined in a third primary school cohort in a community in South Africa (SA)...
  30. ncbi request reprint Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature
    Margaret P Adam
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Prenat Diagn 25:1088-96. 2005
    ..Instead, they produce an anomalous hemoglobin, hemoglobin Bart's, with an unusually high affinity for oxygen, leading to profound anemia and tissue hypoxia...
  31. 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
  32. ncbi request reprint Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populations
    Elizabeth S Moore
    St Vincent Hospital, Indianapolis, Indiana, USA
    Alcohol Clin Exp Res 31:1707-13. 2007
    ....
  33. ncbi request reprint Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
    Karen M Lower
    Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women s and Children s Hospital, 72 King William Rd, North Adelaide, SA 5006, Australia
    Nat Genet 32:661-5. 2002
    ..Such localization, and the presence of two PHD-like zinc fingers, is suggestive of a role for PHF6 in transcription...
  34. pmc Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence area
    Denis L Viljoen
    Department of Human Genetics, Faculty of Health Sciences, University of Witwatersrand, National Health Laboratory Services, South Africa
    J Stud Alcohol 66:593-604. 2005
    ..The aim of the study was to determine the prevalence and characteristics of fetal alcohol syndrome (FAS) in a second primary school cohort in a community in South Africa...
  35. ncbi request reprint Impaired eyeblink conditioning in children with fetal alcohol syndrome
    Sandra W Jacobson
    Department of Psychiatry and Behavioral Neurosciences, Wayne State University School of Medicine, Detroit, Michigan 48207, USA
    Alcohol Clin Exp Res 32:365-72. 2008
    ....