Search Results - "HOYME, H. E"

Congenital anomaly rate in offspring of mothers with diabetes treated with insulin lispro during pregnancy by Wyatt, J. W., Frias, J. L., Hoyme, H. E., Jovanovic, L., Kaaja, R., Brown, F., Garg, S., Lee-Parritz, A., Seely, E. W., Kerr, L., Mattoo, V., Tan, M.

“…Aim  To determine the rate of major congenital anomalies in offspring of a large group of women with diabetes mellitus treated with insulin lispro (Humalog®)…”
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Prenatal alcohol exposure alters the patterns of facial asymmetry by Klingenberg, C.P, Wetherill, L, Rogers, J, Moore, E, Ward, R, Autti-Rämö, I, Fagerlund, Å, Jacobson, S.W, Robinson, L.K, Hoyme, H.E, Mattson, S.N, Li, T.K, Riley, E.P, Foroud, T

“…Abstract Directional asymmetry, the systematic differences between the left and right body sides, is widespread in human populations. Changes in directional…”
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The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations by Turner, G, Lower, KM, White, SM, Delatycki, M, Lampe, AK, Wright, M, Smith, J Clayton, Kerr, B, Schelley, S, Hoyme, HE, De Vries, BBA, Kleefstra, T, Grompe, M, Cox, B, Gecz, J, Partington, M

“…The usual description of the Börjeson–Forssman–Lehmann syndrome (BFLS) is that of a rare, X‐linked, partially dominant condition with severe intellectual…”
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Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis by Fang, S, McLaughlin, J, Fang, J, Huang, J, Autti-Rämö, I, Fagerlund, Å, Jacobson, SW, Robinson, LK, Hoyme, HE, Mattson, SN, Riley, E, Zhou, F, Ward, R, Moore, ES, Foroud, T

“…Structured Authors –  Fang S, McLaughlin J, Fang J, Huang J, Autti‐Rämö I, Fagerlund Å, Jacobson SW, Robinson LK, Hoyme HE, Mattson SN, Riley E, Zhou F, Ward…”
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Sudden death in Williams syndrome: Report of ten cases by Bird, Lynne M., Billman, Glenn F., Lacro, Ronald V., Spicer, Robert L., Jariwala, Lena K., Hoyme, H.Eugene, Zamora-Salinas, Rolando, Morris, Colleen, Viskochil, David, Frikke, Maureen J., Jones, Marilyn C.

“…Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and…”
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Phenotypic and genotypic heterogeneity in familial Milroy lymphedema by WITTE, M. H, ERICKSON, R, BERNAS, M, ANDRADE, M, REISER, F, CONLON, W, HOYME, H. E, WITTE, C. L

“…Familial Milroy lymphedema (ML) is classified as an autosomal dominant disorder characterized by peripheral edema of the lower extremities at birth or in early…”
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Toluene embryopathy : delineation of the phenotype and comparison with fetal alcohol syndrome by PEARSON, M. A, HOYME, H. E, SEAVER, L. H, RIMSZA, M. E

“…To determine if maternal toluene abuse produces any structural or developmental disabilities in the developing fetus, a cohort of toluene-exposed infants was…”
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Pharmacogenomics: the future of drug therapy by Tsai, YJ, Hoyme, HE

“…Pharmacogenomics aims to optimize patient management by customizing and synthesizing drugs based on genetic variations in drug response. Polymorphisms…”
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Clinical and molecular diagnosis of Miller-Dieker syndrome by DOBYNS, W. B, CURRY, C. J. R, HOYME, H. E, TURLINGTON, L, LEDBETTER, D. H

“…We report results of clinical, cytogenetic, and molecular studies in 27 patients with Miller-Dieker syndrome (MDS) from 25 families. All had severe type I…”
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Prenatal cocaine exposure and fetal vascular disruption by Hoyme, H E, Jones, K L, Dixon, S D, Jewett, T, Hanson, J W, Robinson, L K, Msall, M E, Allanson, J E

“…The question of the potential teratogenicity of cocaine has been raised by the increasing frequency of its abuse in the United States. In previous studies, an…”
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A clinical genetics and dysmorphology approach to growth deficiency by Hoyme, H E

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333 GLASGOW VARIANT OF THANATOPHORIC DYSPLASIA: EXPANDING THE PHENOTYPE by Kwan, A., Hoyme, H. E.

“…Thanatophoric dysplasia (TD) is a lethal short-limbed skeletal dysplasia with characteristic findings of micromelia, bowed femurs, narrow thorax, and short…”
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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 by Schwarze, Ulrike, Hata, Ryu-Ichiro, McKusick, Victor A., Shinkai, Hiroshi, Hoyme, H. Eugene, Pyeritz, Reed E., Byers, Peter H.

“…Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of…”
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Design, Construction, and Testing of a Stereo-Photogrammetric Tool for the Diagnosis of Fetal Alcohol Syndrome in Infants by Mutsvangwa, T., Smit, J., Hoyme, H.E., Kalberg, W., Viljoen, D.L., Meintjes, E.M., Douglas, T.S.

“…Stereo-photogrammetry provides a low cost, easy to use, and noninvasive alternative to traditional facial anthropometry for the diagnosis of fetal alcohol…”
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Teratology in pediatric practice by Seaver, L H, Hoyme, H E

“…A range of infections, physical agents, maternal diseases and metabolic states, drugs, and chemicals have been demonstrated to be human teratogens. These…”
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Levy-Hollister syndrome by KREUTZ, J. M, HOYME, H. E

“…The Levy-Hollister syndrome is an autosomal dominant disorder characterized by lacrimal malformations, simple cup-shaped ears, hearing loss, hypodontia and…”
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332 POROKERATOTIC ECCRINE OSTIAL AND DERMAL DUCT NEVUS SYNDROME: FURTHER CLINICAL DELINEATION OF A RARE, CONGENITAL DERMATOLOGIC CONDITION WITH SIMILAR PRESENTATION TO GOLTZ SYNDROME by Kwan, A., Frieden, I., Hoyme, H. E.

“…Congenital atrophic plaques are an uncommon finding, observed in an asymmetric pattern with linear distribution in Goltz syndrome (focal dermal hypoplasia). We…”
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302 DUPLICATION 22Q11.2: CLINICALLY HETEROGENEOUS NEW SYNDROME OR GENETIC POLYMORPHISM? by Bernstein, J. A., Chen, K. C., Saal, H. M., Alkuraya, F. S., Stevens, C. A., Cherry, A. M., Hoyme, H. E.

“…Duplication of 22q11.2, the velocardiofacial syndrome (VCFS) region, has been described as the mechanism underlying a new condition associated with a spectrum…”
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339 NABLUS MASK-LIKE FACIAL SYNDROME IS CAUSED BY DELETION IN 8q21-8q22 DETECTED BY ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZTION by Shieh, J. T.C., Aradhya, S., Manning, M. A., Cherry, A. M., Dallapiccola, B., Hoyme, H. E.

“…In 2000 Teebi described a 4-year-old boy with an unusual facial appearance and called the distinct phenotype “Nablus mask-like facial syndrome.”…”
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341 MANDIBULOACRAL DYSPLASIA: AN UNUSUAL CASE OF A RARE DISORDER by Cushing, T. H., Manning, M. A., Seaver, L. H., Brumblay, J. M., Hoyme, H. E.

“…Mandibuloacral dysplasia (MAD) is a rare condition characterized by postnatal growth retardation, craniofacial anomalies including mandibular hypoplasia and…”
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