Research Topics
| H Eugene HoymeSummaryAffiliation: Stanford University Country: USA Publications
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Detail Information
Publications
Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret 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....- Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridizationJoseph 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.... 
A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteriaH 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...- Fetal alcohol spectrum disorders: Extending the range of structural defectsKenneth 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... 
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...- 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayKristina 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.... - Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndromeKenneth 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... - 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.... - Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrumMelanie 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.... - Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficienciesSusan 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... - Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature reviewMelanie 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... - Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancyRegina 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... - Marinesco-Sjögren syndrome in a male with mild dysmorphismAnne 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.... - Terminal deletion of 6p results in a recognizable phenotypeRuth 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... - Ectopia lentis as the presenting and primary feature in Marfan syndromeNeda 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... - FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practiceRuth 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... - Marked variability in the radiographic features of cartilage-hair hypoplasia: Case report and review of the literatureAndrea Kwan
Division of Medical Genetics, Departments of Pediatrics and Genetics, Stanford University Medical Center, Stanford, California
Am J Med Genet A 158:2911-6. 2012..2012 Wiley Periodicals, Inc... - Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndromeJoseph 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... - 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..Early recognition of affected individuals should allow for aggressive pain control and expectant management of the multiple associated problems, including gastrointestinal dysfunction... - Diagnosis and management of the adolescent boy with Klinefelter syndromeMelanie 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... - Athabascan brainstem dysgenesis syndromeSteve 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... - Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardationAgatino 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... - 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 relativePhilip 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... - Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patientsRobert 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... - Relationship between dysmorphic features and general cognitive function in children with fetal alcohol spectrum disordersNina 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... - Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer 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... - The epidemiology of fetal alcohol syndrome and partial FAS in a South African communityPhilip 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)... - Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescentsIlona Autti-Ramo
Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
Am J Med Genet A 140:137-43. 2006.... - Impaired eyeblink conditioning in children with fetal alcohol syndromeSandra 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.... - Unique facial features distinguish fetal alcohol syndrome patients and controls in diverse ethnic populationsElizabeth S Moore
St Vincent Hospital, Indianapolis, Indiana, USA
Alcohol Clin Exp Res 31:1707-13. 2007.... - Additional EFNB1 mutations in craniofrontonasal syndromeDeeann 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 - Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literatureMargaret 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... - Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren 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... - Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence areaDenis 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..CONCLUSION: A high rate of FAS was documented in this community. Given social and economic similarities and racial admixture, we suspect that other communities in the Western Cape have rates that also are quite high...