H Eugene Hoyme
Publications
- Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention. Neurosci Biobehav Rev. 2007; (2): 270-7
- Fetal alcohol spectrum disorders: A practical clinical approach to diagnosis Neurosci Biobehav Rev. 2007; (2): 230-8
- The epidemiology of fetal alcohol syndrome and partial FAS in a South African community. Drug Alcohol Depend. 2007; (2-3): 259-71
- Comparison of motor delays in young children with fetal alcohol syndrome to those with prenatal alcohol exposure and with no prenatal alcohol exposure. Alcohol Clin Exp Res. 2006; (12): 2037-45
- Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools Alcoholism: Clinical and Experimental Research. 2006; (9): 1562-1575
- Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents. Am J Med Genet A. 2006; (2): 137-43
- Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A. 2006; (8): 906-9
- Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. Am J Med Genet A. 2006; (12): 1267-73
- Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics. 2006; (5): e1485-92
- Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. Am J Med Genet A. 2006; (2): 170-3
- Unilateral aquagenic wrinkling of the palms associated with aspirin intake. Arch Dermatol. 2006; (12): 1661-2
- A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 institute of medicine criteria. Pediatrics. 2005; (1): 39-47
- Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? Am J Med Genet A. 2005; (4): 359-62
- Congenital anomaly rate in offspring of mothers with diabetes treated with insulin lispro during pregnancy. Diabet Med. 2005; (6): 803-7
- Fetal alcohol spectrum disorders: Practical clinical evaluation and diagnosis Italian J Pediatr. 2005: 244-253
- Fetal alcohol syndrome epidemiology in a South African community: a second study of a very high prevalence area. J Stud Alcohol. 2005; (5): 593-604
- Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005; (2): 197-201
- Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities Am J Med Genet A. 2005; (2): 117-124
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005; (4): 609-22
- Refining the diagnostic criteria of FASD (Letter) JFAS Int. 2005: e18
- Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet A. 2005; (2): 162-8
- Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature. Prenat Diagn. 2005; (12): 1088-96
- 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. Am J Med Genet C Semin Med Genet. 2004; (1): 10-20
- Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A. 2004; (3): 240-9
- Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004; (5): 917-30
- Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004; (2): 451-7
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. Clin Genet. 2004; (3): 226-32
- Athabascan brainstem dysgenesis syndrome. Am J Med Genet A. 2003; (2): 169-73
- FISHing for answers: The use of molecular cytogenetic techniques in neonatology Neoreviews. 2003: e94-e98
- Follow-up of children of depressed mothers exposed or not exposed to antidepressant drugs during pregnancy. J Pediatr. 2003; (4): 402-8
- Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion. Am J Med Genet A. 2003; (1): 72-8
- Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet A. 2003; (1): 93; discussion 94
- Morphogenesis: clinical natural history and imaging information on patients included in reports. Pediatr Radiol. 2003; (2): 146
- Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003; (1): 84-90
- The practice of clinical genetics: a survey of practitioners. Genet Med. 2002 May-Jun; (3): 142-9
- (Letter). Response regarding: Limb/pelvis hypoplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection Am J Med Genet. 2002: 458
- Buchanan GR, Desposito F, Pegelow CH, Vichinsky EP, Wethers DL, Woods, GM, Berkow RL, August CS, Corrigan J, Feig SA, Hutter J, Cunniff, C, Frias J, Kaye C, Moeschler T, Trotter T, Hoyme HE, Hanson JW, Lloyd-Puryear M, Moore CA, Schulman LP American Academy of Pediatrics Section on Hematology/Oncology Committee on Genetics Policy Statement. Health Supervision for Children With Sickle Cell Disease. 2002: 526-535
- Diagnosis and management of the adolescent boy with Klinefelter syndrome. Adolesc Med. 2002; (2): 367-74, viii
- Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab. 2002; (2): 120-7
- FISHing for answers: the use of molecular cytogenetic techniques in adolescent medicine practice. Adolesc Med. 2002; (2): 305-13, vi
- Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nat Genet. 2002; (4): 661-5
- Pharmacogenomics: the future of drug therapy. Clin Genet. 2002; (4): 257-64
- Preface: Genetics and Dysmorphology in the Adolescent State of the Art Reviews: Adolescent Medicine. 2002; (2): xi
- American Academy of Pediatrics Committee on Genetics Policy Statement. Health Care Supervision for children with Williams syndrome Pediatrics. 2001: 1192-1204
- American Academy of Pediatrics Committee on Genetics Policy Statement. Health supervision for children with Down syndrome Pediatrics. 2001: 442-449
- American Academy of Pediatrics Committee on Genetics Policy Statement. Maternal Phenylketonuria Pediatrics. 2001: 427-428
- Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection. Am J Med Genet. 2001; (4): 295-301
- A clinical genetics and dysmorphology approach to growth deficiency. Pediatr Ann. 2000; (9): 549-55
- American Academy of Pediatrics Committee on Genetics. Molecular genetic testing in pediatric practice: A subject review Pediatrics. 2000: 1494-1497
- American Academy of Pediatrics Technical Report. Congenital adrenal hyperplasia Pediatrics. 2000: 1511-1518
- Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet. 1998; (1): 52-4
- Invited editorial commentary on Nadler HL: Antenatal detection of hereditary disorders. In Pediatrics, 50th Anniversary Supplement Pediatrics. 1998: 247-249
- Isolated hemihyperplasia (hemihypertrophy): report of a prospective multicenter study of the incidence of neoplasia and review. Am J Med Genet. 1998; (4): 274-8
- Phenotypic and genotypic heterogeneity in familial Milroy lymphedema. Lymphology. 1998; (4): 145-55
- Six patients with oral-facial-digital syndrome IV: the case for heterogeneity. Am J Med Genet. 1997; (3): 250-60
- Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996; (6): 926-31
- Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome. Pediatrics. 1994; (2): 211-5
- von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies. Am J Med Genet. 1994; (3): 272-8
- Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet. 1993; (2): 203-8
- Developmental disorders of the lymphatic system. Lymphology. 1993; (4): 156-68
- Further delineation of the epidermal nevus syndrome: two cases with new findings and literature review. Am J Med Genet. 1993; (1): 24-30
- Minor anomalies: Diagnostic clues to aberrant human morphogenesis Genetica. 1993: 307-315
- Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet. 1993; (5): 549-56
- The medical evaluation in cases of fetal demise IHS Primary Care Provider. 1993: 61-64
- Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis. J Pediatr. 1993; (3): 398-405
- Cardiac teratogenicity of dichloroethylene in a chick model. Pediatr Res. 1992; (1): 23-6
- Fellowships and career development in dysmorphology and clinical genetics. Pediatr Clin North Am. 1992; (2): 349-62
- Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. Am J Med Genet. 1992; (3): 398-9
- Teratology in pediatric practice. Pediatr Clin North Am. 1992; (1): 111-34
- Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991; (3): 584-94
- Fetal vascular disruption following prenatal exposure to cocaine or methamphetamine Pediatrics. 1991: 416-419
- Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. Am J Med Genet. 1991; (1): 69-73
- Identification of a balanced translocation carrier by spouse's low maternal serum alpha fetoprotein associated with an aneuploid fetus. J Med Genet. 1990; (11): 728
- Prenatal cocaine exposure and fetal vascular disruption. Pediatrics. 1990; (5): 743-7
- Teratogenically induced fetal anomalies. Clin Perinatol. 1990; (3): 547-67
- Levy-Hollister syndrome. Pediatrics. 1988; (1): 96-9
- Pathogenesis of sirenomelia: an editorial comment. Teratology. 1988; (5): 485-6
- Bronchoscopic evaluation of airway obstruction in campomelic dysplasia. Pediatr Pulmonol. 1987 Sep-Oct; (5): 364-7
- Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation. J Pediatr. 1987; (4): 538-43
- Book Review: Milunsky A (ed): Genetic disorders and the fetus: Diagnosis, prevention and treatment (ed 2) Am J Dis Child. 1987: 1062
- Congenital oral tumor associated with neurofibromatosis detected by prenatal ultrasound. Clin Pediatr (Phila). 1987; (7): 372-4
- Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet. 1987; (4): 841-56
- Minor malformations. Significant or insignificant? Am J Dis Child. 1987; (9): 947
- Vascular pathogenesis of unilateral craniofacial defects. J Pediatr. 1987; (2): 236-9
- Further delineation of Weaver syndrome J Pediatr. 1986: 228-235
- Trisomy 18 with ectopia cordis, omphalocele, and ventricular septal defect: case report. Pediatr Pathol. 1986; (3-4): 481-3
- Intellectual functioning and ectodermal dysplasia Pediatrics. 1985: 126-129
- Duplication (17p) in a child with an isodicentric (17p) chromosome. Am J Med Genet. 1983; (1): 67-72
- Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery. Semin Perinatol. 1983; (4): 294-8
- The vascular pathogenesis of some sporadically occurring limb defects. Semin Perinatol. 1983; (4): 299-306
- Adjacent 2 translocation involving 13q and 21q. J Med Genet. 1982; (4): 314-5
- Neonatal hemorrhage secondary to thrombocytopenia: an occasional effect of prenatal hydantoin exposure. Birth Defects Orig Artic Ser. 1982; (3 Pt A): 47-54
- Recurrence risk of gastroschisis J Pediatr. 1982: 336-339
- Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia. J Pediatr. 1982; (5): 832-8
- Vascular pathogenesis of transverse limb reduction defects. J Pediatr. 1982; (5): 839-43
- Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. J Med Genet. 1981; (3): 237-9
- The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr. 1981; (2): 228-31
- Vascular etiology of disruptive structural defects in monozygotic twins. Pediatrics. 1981; (2): 288-91
- Carbohydrate metabolism in Acanthamoeba castellanii. I. The activity of key enzymes and (14C)-glucose metabolism. Can J Microbiol. 1973; (9): 1131-6
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