Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Fran Annese"'
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract 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 dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9
Autor:
Jeffrey L. Neul, Steven A. Skinner, Fran Annese, Jane Lane, Peter Heydemann, Mary Jones, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 14 (2020)
Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by de novo mut
Externí odkaz:
https://doaj.org/article/bc9039dd9abc4d0f8f8cb9fd5fd64c53
Autor:
Jessica A. Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B. Everman, Steven Skinner, Michael J. Friez, Julie R. Jones, Catherine J. Spellicy
Publikováno v:
American Journal of Medical Genetics Part A. 188:2988-2998
Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of purposeful hand movements, stereotypic hand movements, abnormal gait, and loss of spoken langua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94a396225f8cb742fb842cc9a03f8de
https://doi.org/10.1002/ajmg.a.62913
https://doi.org/10.1002/ajmg.a.62913
Autor:
Kathleen J. Motil, Suzanne Geerts, Fran Annese, Jeffrey L. Neul, Tim Benke, Eric Marsh, David Lieberman, Steven A. Skinner, Daniel G. Glaze, Peter Heydemann, Arthur Beisang, Shannon Standridge, Robin Ryther, Jane B. Lane, Lloyd Edwards, Alan K. Percy
Publikováno v:
J Pediatr
To characterize growth and anthropometric measurements in females with Rett syndrome and compare these measurements with functional outcomes.We obtained longitudinal growth and anthropometric measurements from 1154 females with classic and atypical R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71f60444bc74a01122ded28061637adf
https://pubmed.ncbi.nlm.nih.gov/35063470
https://pubmed.ncbi.nlm.nih.gov/35063470
Autor:
Fran Annese, Judy O. Barrish, Alan K. Percy, Daniel G. Glaze, Jeffrey L. Neul, Jane B. Lane, Lauren McNair, Suzanne Geerts, Steven A. Skinner, Kathleen J. Motil
Publikováno v:
J Pediatr Gastroenterol Nutr
OBJECTIVE: We reviewed medical records and conducted a nationwide survey to characterize the clinical features and determine the prevalence of biliary tract disease in girls and women with Rett syndrome (RTT). METHODS: Sixty-two individuals with RTT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de6da0719f9a7e2d992929d0da21a972
https://doi.org/10.1097/mpg.0000000000002273
https://doi.org/10.1097/mpg.0000000000002273
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
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
https://doi.org/10.1002/mgg3.1121
Publikováno v:
Translational Science of Rare Diseases
Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in MECP2, the gene predominantly associated with this disorder, were provided additional genetic testing. This testing revealed pathogenic mutations in a gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a60fc8ae3a5bba414ffce6d772f7b26
http://europepmc.org/articles/PMC5900556
http://europepmc.org/articles/PMC5900556
Autor:
Samin A. Sajan, Michael J. Friez, Jane B. Lane, Fran Annese, Steven A. Skinner, Shalini N. Jhangiani, Walter E. Kaufmann, Daniel G. Glaze, James R. Lupski, Alan K. Percy, Richard A. Gibbs, Donna M. Muzny, Jeffrey L. Neul
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 19, iss 1
Sajan, SA; Jhangiani, SN; Muzny, DM; Gibbs, RA; Lupski, JR; Glaze, DG; et al.(2017). Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. GENETICS IN MEDICINE, 19(1), 13-19. doi: 10.1038/gim.2016.42. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1t98x3zx
Genetics in medicine : official journal of the American College of Medical Genetics
Sajan, SA; Jhangiani, SN; Muzny, DM; Gibbs, RA; Lupski, JR; Glaze, DG; et al.(2017). Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. GENETICS IN MEDICINE, 19(1), 13-19. doi: 10.1038/gim.2016.42. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1t98x3zx
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeRett syndrome (RTT) is a neurodevelopmental disorder caused primarily by de novo mutations in MECP2 and sometimes in CDKL5 and FOXG1. However, some RTT patients lack mutations in these genes.MethodsTwenty-two RTT patients without apparent MECP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c257d3a355ba3e45604f4d96e6a5cd62
https://doi.org/10.1038/gim.2016.42
https://doi.org/10.1038/gim.2016.42
Autor:
Kathleen J. Motil, Steven A. Skinner, Hye-Seung Lee, Suzanne Geerts, Alan K. Percy, Erwin Caeg, Jane B. Lane, Judy O. Barrish, Daniel G. Glaze, Fran Annese, Lauren McNair, Jeffrey L. Neul
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 55:292-298
We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58f622843c6f9c5882d0e6faf05cbf5
https://doi.org/10.1097/mpg.0b013e31824b6159
https://doi.org/10.1097/mpg.0b013e31824b6159
Autor:
Judy O. Barrish, Lauren McNair, Fran Annese, Daniel G. Glaze, Jane B. Lane, Alan K. Percy, Suzanne Geerts, Jeffrey L. Neul, Steven A. Skinner, Kathleen J. Motil
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition. 53:569-574
Objectives: The aim of the study was to determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D (25(OH)D) levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::631f3e43dc4d08845a9fd8a3eee66486
https://doi.org/10.1097/mpg.0b013e3182267a66
https://doi.org/10.1097/mpg.0b013e3182267a66