Výsledky vyhledávání - "Steve A. Skinner"

Akademický článek

Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-11 (2022)

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily ap

Externí odkaz: https://doaj.org/article/8aae0854010443cb93ccd08bb6de4fed

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Phenotypic features in MECP2 duplication syndrome: Effects of age

Autor: Jeffrey L. Neul, David N. Lieberman, Sarika U. Peters, Daniel G. Glaze, Peter Heydeman, Mary Jones, Timothy Feyma, Eric D. Marsh, Steve A. Skinner, Shannon Michelle Standridge, Bernard Suter, Tim A. Benke, Arthur A. Beisang, Robin C. C. Ryther, Cary Fu, Alan K. Percy

Publikováno v: Am J Med Genet A

Background MECP2 Duplication syndrome (MDS) is a rare X-linked genomic disorder that is caused by interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. Although phenotypic features in MDS have been described, there is a limited u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52fed5263846c522d44c4916288b334f
https://doi.org/10.1002/ajmg.a.61956

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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Publikováno v: Journal of neurodevelopmental disorders. 14(1)

Background Rett syndrome (RTT) is a neurodevelopmental disorder most often related to a pathogenic variant in the X-linked MECP2 gene. Internalizing behaviors appear to be common, but standard methods of diagnosing anxiety are not readily applied in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0635e0642adde707ee4bb45159dded1e
https://pubmed.ncbi.nlm.nih.gov/35568815

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Autor: Lynda Holloway, Richard Steet, Tonya Moss, Steve A. Skinner, Seok-Ho Yu, Addison Neighbors, Russell P. Saneto, Fran Annese

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine

Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, ear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac1a0bbe327f661f5bac002d9d8c8b4
https://doi.org/10.1002/mgg3.1121

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Assessment of Caregiver Inventory for Rett Syndrome

Autor: Amber Salter, Joseph P. Horrigan, Jane B. Lane, Daniel G. Glaze, Steve A. Skinner, Walter E. Kaufmann, Nancy E. Jones, Alan K. Percy, Gary Cutter, Jeffrey L. Neul

Publikováno v: Journal of Autism and Developmental Disorders. 47:1102-1112

Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b84b9a02dfeb41dfaaf8cb7fb9ad53
https://doi.org/10.1007/s10803-017-3034-3

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Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome

Autor: Alan K. Percy, Walter E. Kaufmann, Cary Fu, Steve A. Skinner, David N. Lieberman, Timothy Feyma, Daniel G. Glaze, Eric D. Marsh, Jeffrey L. Neul, Bernhard Suter, Sarika U. Peters, Mary Jones, Arthur A. Beisang, Tim A. Benke, Shannon M. Standridge, Robin C. C. Ryther, Peter Heydeman

Publikováno v: Clin Genet

Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f846d7cfacb39acf7613e53ea07bbd60
https://europepmc.org/articles/PMC6465105/

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Importance of genetic testing in global health during the evaluation of familial microcephaly

Autor: Michael J. Lyons, Barbara R. DuPont, Jordan Broman‐Fulks, Alka Chaubey, Kenton R. Holden, Michael J. Friez, Isaac Molinero, Maria Matheus, Steve A. Skinner

Publikováno v: Clinical Case Reports

Key Clinical Message A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d384955fc51a1571a6e2f7720e84df4
http://europepmc.org/articles/PMC5054472

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Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Autor: John T. Killian, Walter E. Kaufmann, Steve A. Skinner, Hye-Seung Lee, Jeffrey L. Neul, Alan K. Percy, Daniel G. Glaze, Jane B. Lane

Publikováno v: Pediatric neurology. 70

Background Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e748a877cf61d1c0269ab1ed9f374b50
https://pubmed.ncbi.nlm.nih.gov/28347601

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Clinical severity and quality of life in children and adolescents with Rett syndrome

Autor: Kathleen J. Motil, P Cheng, H-S Lee, Lauren McNair, Daniel G. Glaze, L W Smith, Jeffrey L. Neul, Fran Annese, Judy O. Barrish, Alan K. Percy, Omar Khwaja, Katherine Barnes, Jane B. Lane, Jeffrey P. Krischer, Joy Graham, Steve A. Skinner

Publikováno v: Neurology. 77:1812-1818

Objective: The clinical features and genetics of Rett syndrome (RTT) have been well studied, but examination of quality of life (QOL) is limited. This study describes the impact of clinical severity on QOL among female children and adolescents with c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29405425366a4e32561025eb44691b36
https://doi.org/10.1212/wnl.0b013e3182377dd2

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11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Autor: Sarika U. Peters, Marwan Shinawi, Craig Chinault, Trilochan Sahoo, Ankita Patel, Bruno Maranda, Arthur L. Beaudet, Cindy Skinner, Steve A. Skinner, Roger E. Stevenson, Roxanne R. Zascavage

Publikováno v: American Journal of Medical Genetics Part A. 155:1272-1280

Genomic copy number imbalances are being increasingly identified as an important cause of intellectual disability and behavioral abnormalities. The typical deletion in WAGR syndrome encompasses the PAX6 and WT1 genes, but larger deletions have been a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f519ea4aff9cfa4dc13b930c3b929fc
https://doi.org/10.1002/ajmg.a.33878

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