Zobrazeno 1 - 10
of 201
pro vyhledávání: '"G. Spaeth"'
Autor:
Reham, Khalaf-Nazzal, James, Fasham, Katherine A, Inskeep, Lauren E, Blizzard, Joseph S, Leslie, Matthew N, Wakeling, Nishanka, Ubeyratna, Tadahiro, Mitani, Jennifer L, Griffith, Wisam, Baker, Fida', Al-Hijawi, Karen C, Keough, Alper, Gezdirici, Loren, Pena, Christine G, Spaeth, Peter D, Turnpenny, Joseph R, Walsh, Randall, Ray, Amber, Neilson, Evguenia, Kouranova, Xiaoxia, Cui, David T, Curiel, Davut, Pehlivan, Zeynep Coban, Akdemir, Jennifer E, Posey, James R, Lupski, William B, Dobyns, Rolf W, Stottmann, Andrew H, Crosby, Emma L, Baple
Publikováno v:
The American Journal of Human Genetics. 109:2068-2079
Non-centrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CAMSAP family o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009bb3b6aad7ac50a8ab0b3ad3182349
https://doi.org/10.1016/j.ajhg.2022.09.012
https://doi.org/10.1016/j.ajhg.2022.09.012
Publikováno v:
Epileptic Disorders. 23:392-396
Recently, studies on whole-exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss-of-function variants in the MAP1B gene. However, neurological phenotypes of these patients rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e0a909506cbfb3be538f7ed256d54e
https://doi.org/10.1684/epd.2021.1258
https://doi.org/10.1684/epd.2021.1258
Akademický článek
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Publikováno v:
Journal of Genetic Counseling. 29:182-191
A gendered pay gap in the genetic counseling profession has been identified in recent years, though reasons for its existence have not been explored in depth. The primary aim of this study was to determine what demographic characteristics and career
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bc0a6602e9d5a6ed1f42eb0798675c
https://doi.org/10.1002/jgc4.1236
https://doi.org/10.1002/jgc4.1236
Publikováno v:
Epileptic Disorders. 19:67-75
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9233c54b25b6dbf7e29892ea9019b7
https://doi.org/10.1684/epd.2017.0888
https://doi.org/10.1684/epd.2017.0888
Autor:
Christine G. Spaeth, Melanie F. Myers, Katherine D. Holland, Hansel M. Greiner, Krista J. Qualmann, Paul S. Horn, Francesco T. Mangano
Publikováno v:
Journal of Child Neurology. 32:467-474
Central nervous system comorbidities have been identified in patients with epilepsy. Several of these comorbidities have been correlated with poor surgery outcomes in patient cohorts. The authors sought to determine if prevalence of comorbidities in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b99810b724a8ded3f6ceec29c2ddf1
https://doi.org/10.1177/0883073816685653
https://doi.org/10.1177/0883073816685653
Akademický článek
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Publikováno v:
Journal of genetic counseling. 27(2)
The paper-based pedigree is the current standard for family health history (FHH) documentation in genetic counseling. Several tools for electronic capture of family health data have been developed to improve re-use and accessibility, data quality and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d81aceb8ce8303a2f722065676064d
https://pubmed.ncbi.nlm.nih.gov/29274073
https://pubmed.ncbi.nlm.nih.gov/29274073
Autor:
Christine G. Spaeth, Francesco T. Mangano, Robert Faist, Lili Miles, Paul S. Horn, Lauren M. Maynard, Katherine D. Holland, Hansel M. Greiner, James L. Leach
Publikováno v:
Epilepsy research. 132
Objectives To determine the prevalence of epilepsy and drug-resistant epilepsy in pediatric patients with focal cortical dysplasia (FCD) identified by magnetic resonance imaging (MRI). To determine clinical and imaging differences between those with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3459a5ae09ed0c5bf9569f27c265555
https://pubmed.ncbi.nlm.nih.gov/28288357
https://pubmed.ncbi.nlm.nih.gov/28288357
Autor:
Valentina Pilipenko, Robert J. Hopkin, Timothy M. Crombleholme, Beth M. Kline-Fath, Christine G. Spaeth, Kyla J. Patek
Publikováno v:
Prenatal Diagnosis. 32:75-82
Objective The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. Methods Cases of Dandy–Walk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::748ba293689f8eb55dfc7c270015f3fb
https://doi.org/10.1002/pd.2911
https://doi.org/10.1002/pd.2911