Výsledky vyhledávání - "G. R. DeLong"

NEUROLOGICAL SIGNS IN CONGENITAL IODINE-DEFICIENCY DISORDER (ENDEMIC CRETINISM)

Autor: J B Stanbury, R Fierro-Benitez, G. R. DeLong

Publikováno v: Developmental Medicine & Child Neurology. 27:317-324

Neurological examinations were made of 67 children and adults with congenital iodine-deficiency disorder (endemic cretinism) in four rural villages in highland Ecuador. There was a distinct and readily identifiable pattern of neurological deficits. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fdf79112545f96a61405a50687e2b1e
https://doi.org/10.1111/j.1469-8749.1985.tb04542.x

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An Analysis Paradigm for Investigating Multi-locus Effects in Complex Disease: Examination of Three GABAA Receptor Subunit Genes on 15q11-q13 as Risk Factors for Autistic Disorder

Autor: Michael L. Cuccaro, Ruth K. Abramson, G. R. DeLong, Allison E. Ashley-Koch, John R. Gilbert, Eden R. Martin, Harry H. Wright, Hao Mei, James M. Jaworski, Deqiong Ma, Marylyn D. Ritchie, M. M. Menold, Margaret A. Pericak-Vance, John P. Hussman

Publikováno v: Annals of Human Genetics. 70:281-292

Summary Gene-gene interactions are likely involved in many complex genetic disorders and new statistical approaches for detecting such interactions are needed. We propose a multi-analytic paradigm, relying on convergence of evidence across multiple a

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https://doi.org/10.1111/j.1469-1809.2006.00253.x

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Identification of Significant Association and Gene-Gene Interaction of GABA Receptor Subunit Genes in Autism

Autor: John P. Hussman, Allison E. Ashley-Koch, D. Q. Ma, P. L. Whitehead, Harry H. Wright, Hao Mei, Marylyn D. Ritchie, Margaret A. Pericak-Vance, Ruth K. Abramson, M. M. Menold, Michael L. Cuccaro, G. R. DeLong, John R. Gilbert, Eden R. Martin

Publikováno v: The American Journal of Human Genetics. 77(3):377-388

Autism is a common neurodevelopmental disorder with a significant genetic component. Existing research suggests that multiple genes contribute to autism and that epigenetic effects or gene-gene interactions are likely contributors to autism risk. How

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Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes

Autor: Yujun Shao, K. Decena, John R. Gilbert, Ruth K. Abramson, M. M. Menold, Chantelle M. Wolpert, Michael L. Cuccaro, Sarah A. Ravan, Elizabeth R. Hauser, Margaret A. Pericak-Vance, Harry H. Wright, L. Elston, G. R. DeLong, S. L. Donnelly, Kimberly L. Raiford

Publikováno v: The American Journal of Human Genetics. 72:539-548

Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the

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https://doi.org/10.1086/367846

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Three Children With a Syndrome of Obesity and Overgrowth, Atypical Psychosis, and Seizures: A Problem in Neuropsychopharmacology

Autor: G R DeLong, A Jobe, M Wainwright, Darrell V. Lewis

Publikováno v: Journal of Child Neurology. 15:518-528

Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheri

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https://doi.org/10.1177/088307380001500805

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Analysis of linkage disequilibrium in ?-aminobutyric acid receptor subunit genes in autistic disorder

Autor: G. R. DeLong, Andrew W. Zimmerman, M. M. Menold, Meredyth P. Bass, J. M. Vance, Harry H. Wright, Eden R. Martin, Sarah A. Ravan, Margaret A. Pericak-Vance, John R. Gilbert, Ruth K. Abramson, Michael L. Cuccaro, Chantelle M. Wolpert, S. L. Donnelly, L. O. Maddox

Publikováno v: American Journal of Medical Genetics. 96:43-48

Autistic disorder (AD) is a neurodevelopmental disorder characterized by abnormalities in behavior, communication, and social interactions and functioning. Recently, Cook et al. reported significant linkage disequilibrium with an AD susceptibility lo

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https://doi.org/10.1002/(sici)1096-8628(20000207)96:1<43::aid-ajmg9>3.0.co

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Effects of nutrition on brain development in humans

Autor: G R DeLong

Publikováno v: The American Journal of Clinical Nutrition. 57:286S-290S

Brain development in humans is remarkably resistant to permanent damage from protein-energy malnutrition. However, specific nutrients have crucial roles. Iodine deficiency is the most important and widespread nutrient deficiency; it causes endemic cr

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https://doi.org/10.1093/ajcn/57.2.286s

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An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder

Autor: A E, Ashley-Koch, H, Mei, J, Jaworski, D Q, Ma, M D, Ritchie, M M, Menold, G R, Delong, R K, Abramson, H H, Wright, J P, Hussman, M L, Cuccaro, J R, Gilbert, E R, Martin, M A, Pericak-Vance

Publikováno v: Annals of human genetics. 70(Pt 3)

Gene-gene interactions are likely involved in many complex genetic disorders and new statistical approaches for detecting such interactions are needed. We propose a multi-analytic paradigm, relying on convergence of evidence across multiple analysis

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https://pubmed.ncbi.nlm.nih.gov/16674551

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Ordered-subset analysis of savant skills in autism for 15q11-q13

Autor: M. M. Menold, James M. Jaworski, Ruth K. Abramson, John R. Gilbert, Harry H. Wright, S. L. Donnelly, Deqiong Ma, Michael L. Cuccaro, Margaret A. Pericak-Vance, G. R. DeLong

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)

Autism is a complex disorder characterized by genetic and phenotypic heterogeneity. Analysis of phenotypically homogeneous subtypes has been used to both confirm and narrow potential autism linkage regions such as the chromosomal region 15q11-q13. In

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https://pubmed.ncbi.nlm.nih.gov/15756693

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Intracranial fibromuscular dysplasia in a 5-year-old child

Autor: N C Chiu, G R DeLong, E R Heinz

Publikováno v: Pediatric Neurology. 14:262-264

A 5-year-old girl presenting with acute middle cerebral artery stroke was diagnosed as having intracranial fibromuscular dysplasia by angiographic findings of focal changes in the proximal right middle cerebral artery and pathological dilatation of t

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https://doi.org/10.1016/0887-8994(96)00023-9

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