Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Susan W. Harris"'
1
Chaplains' Roles as Mediators in Critical Clinical Decisions
Autor: Susan W. Harris
Publikováno v: AMA journal of ethics. 20(7)
Chaplains provide spiritual care and support to patients, families, and hospital staff. What may be less familiar is that chaplains also help mediate decisions among patients, family members, and clinical teams. How clinicians, patients, and families
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4237ee821cabc42a043097d2da7d10a
https://pubmed.ncbi.nlm.nih.gov/30007029
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2
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder
Autor: Flora Tassone, Susan W. Harris, Randi J Hagerman, Yi Mu, Jacky Au, Andrea Schneider, Danh V. Nguyen, Weerasak Chonchaiya, David R Hessl, Meredith Laird
Publikováno v: Human Genetics. 131:581-589
Seizures are a common co-occurring condition in those with fragile X syndrome (FXS), and in those with idiopathic autism spectrum disorder (ASD). Seizures are also associated with ASD in those with FXS. However, little is known about the rate of seiz
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::219afe79967cb14e625bc56b9457d77b
https://doi.org/10.1007/s00439-011-1106-6
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3
Autism Profiles of Males With Fragile X Syndrome
Autor: Ingrid Barbato, David R Hessl, Kristin Herman, Jessica A Ferranti, Susan W. Harris, Flora Tassone, Randi J Hagerman, Susan Bacalman, Paul J. Hagerman, Beth L. Goodlin-Jones
Publikováno v: American Journal on Mental Retardation. 113:427-438
Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with thi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baf716f20d98001f6defbe062e1a28a7
https://doi.org/10.1352/2008.113:427-438
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4
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Autor: Susan W. Harris, Nicole Tartaglia, Catalina García-Nonell, Eugenia Rigau Ratera, Michele Y. Ono, Flora Tassone, David R Hessl, Emily Marvin, Randi J Hagerman
Publikováno v: American Journal of Medical Genetics Part A. :1911-1916
This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbee3bc13712aa23384464d075dd525
https://doi.org/10.1002/ajmg.a.32290
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5
Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?
Autor: Tony J. Simon, Susan W. Harris, Lesley Deprey, Kathleen Angkustsiri, Khyati Brahmbhatt, Beth L. Goodlin-Jones
Publikováno v: Journal of autism and developmental disorders, vol 44, iss 4
Angkustsiri, K; Goodlin-Jones, B; Deprey, L; Brahmbhatt, K; Harris, S; & Simon, TJ. (2014). Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): Autism spectrum disorder or a different endophenotype?. Journal of Autism and Developmental Disorders, 44(4), 739-746. doi: 10.1007/s10803-013-1920-x. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/1x345028
High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d5e2dd6a2002ab7e5a789a0b2a6569c
https://escholarship.org/uc/item/1x345028
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6
Clinical involvement and protein expression in individuals with theFMR1 premutation
Autor: Randi J Hagerman, Susan W. Harris, Paul J. Hagerman, Louise W. Gane, Flora Tassone, Annette K. Taylor, Janine B. Mills
Publikováno v: American Journal of Medical Genetics. 91:144-152
Most individuals with the fragile X premutation are clinically unaffected; however, some show clinical manifestations, including learning difficulties, emotional problems, or even mental retardation. The basis of clinical involvement in these individ
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::85364ebbb9539d4ba7e2a070803996ff
https://doi.org/10.1002/(sici)1096-8628(20000313)91:2<144::aid-ajmg14>3.0.co
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8
Motor abilities of children diagnosed with fragile X syndrome with and without autism
Autor: Laura Greiss-Hess, Kylee Cook, Randi J Hagerman, Chaya Zingerevich, Kerrie Lemons-Chitwood, David R Hessl, Susan W. Harris
Publikováno v: Journal of intellectual disability research : JIDR. 53(1)
Previous studies suggested that children diagnosed with fragile X syndrome (FXS) often meet criteria for autism or PDD. This study describes the fine motor abilities of children diagnosed with FXS with and without autism spectrum disorder, and compar
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a17d83ad969031a854dd4d53de2d8bd
https://pubmed.ncbi.nlm.nih.gov/18771512
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9
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
Autor: Foster Lewin, Elizabeth Berry-Kravis, Maureen A. Leehey, Randi J Hagerman, David R Hessl, Jacob A. Wegelin, Ingrid Barbato, Emma Gould, Louise W. Gane, Deborah A. Hall, Flora Tassone, Cathlin D. Rice, Dahlia Weinberg, James P. Grigsby, Susan W. Harris, Danuta Z. Loesch, Paul J. Hagerman
Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)
Until recently, individuals with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene were believed to be psychologically unaffected. However, the recent documentation of abnormal elevation of FMR1 mRNA, discover
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e88fb032e9fc7d1d267141c9c326dd
https://pubmed.ncbi.nlm.nih.gov/16184602
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10
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
Autor: Louise W. Gane, Kristin Herman, Claudia M. Greco, Sébastien Jacquemont, Elizabeth Berry-Kravis, Paul J. Hagerman, Maureen A. Leehey, Deborah A. Hall, Randi J Hagerman, James A. Brunberg, Lin Zhang, James P. Grigsby, Susan W. Harris, Tristan Jardini, Richard A. Levine, Flora Tassone
Publikováno v: JAMA. 291(4)
ContextPremutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are frequent in the general population, with estimated prevalences of 1 per 259 females and 1 per 813 males. Several articles have recently described
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b84c2e7bf7e50051e6d52c20eab61e
https://pubmed.ncbi.nlm.nih.gov/15213204
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