Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Jessica A. Cooley‐Coleman"'
Autor:
Camerun Washington, Elliot S. Stolerman, Jessica A. Cooley‐Coleman, Julie R. Jones, Xiangwen Chen‐Deutsch
Publikováno v:
Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract We see that a multiple methods approach to diagnosis remains necessary in the era of whole genome sequencing. We also observe that reproductive risk genetic counseling can be a motivating factor for further testing along the diagnostic odyss
Externí odkaz:
https://doaj.org/article/1233e6e68d2047238b075f40b6888786
Autor:
Jessica A. Cooley Coleman, Sara M. Sarasua, Luigi Boccuto, Hannah W. Moore, Steven A. Skinner, Jane M. DeLuca
Publikováno v:
Nursing Open, Vol 8, Iss 5, Pp 2419-2428 (2021)
Abstract Aim This article seeks to clarify and define the concept of tremors. Design The Walker & Avant (2005) concept analysis method was followed. Methods A search of PubMed, Academic Search Complete, CINAHL, ERIC, Google and Google Scholar was per
Externí odkaz:
https://doaj.org/article/93293355fbd6427db378c3a9a8afeb8a
Autor:
Young Bae Sohn, Curtis Rogers, Jennifer Stallworth, Jessica A. Cooley Coleman, Laura Buch, Erin Jozwiak, Jo Ann Johnson, Tim Wood, Paul Harmatz, Laura Pollard, Raymond J. Louie
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100875- (2022)
Morquio syndrome A (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficiency of N-acetyl-galactosamine-6-sulfatase (GALNS) which catabolizes the glycosaminoglycans (GAG), keratan sulfate and chondr
Externí odkaz:
https://doaj.org/article/17a846fdbc06476496d165a9c3b86ed3
Autor:
Jessica A. Cooley Coleman, Sara M. Sarasua, Hannah Warren Moore, Luigi Boccuto, Christopher W. Cowan, Steven A. Skinner, Jane M. DeLuca
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Introduction MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43
Externí odkaz:
https://doaj.org/article/846519327b42404aaec70ebde4ce1f10
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:
Camerun Washington, Elliot S. Stolerman, Jessica A. Cooley‐Coleman, Julie R. Jones, Xiangwen Chen‐Deutsch
Publikováno v:
Clinical Case Reports. 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d232032f94952adfcb784170a01827c
https://doi.org/10.1002/ccr3.7165
https://doi.org/10.1002/ccr3.7165
Autor:
Steven A. Skinner, Luigi Boccuto, Hannah W. Moore, Jessica A Cooley Coleman, Sara M. Sarasua, Jane DeLuca
Publikováno v:
Nursing Open, Vol 8, Iss 5, Pp 2419-2428 (2021)
Nursing Open
Nursing Open
Aim This article seeks to clarify and define the concept of tremors. Design The Walker & Avant (2005) concept analysis method was followed. Methods A search of PubMed, Academic Search Complete, CINAHL, ERIC, Google and Google Scholar was performed. R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d52996a9497390d08e112bfdef4299ed
https://doaj.org/article/93293355fbd6427db378c3a9a8afeb8a
https://doaj.org/article/93293355fbd6427db378c3a9a8afeb8a
Autor:
Jessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, Rini Pauly, Catherine A Ziats, David B Everman, Steven A Skinner, Shannon Bell, Raymond J Louie, Lauren Cascio, Wesley G Patterson, Julie R Jones, Nataliya Di Donato, Roger E Stevenson, Luigi Boccuto
Publikováno v:
Human molecular genetics.
Mosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f5d2f0b32c4b3b26e5558e0b7d6218
https://pubmed.ncbi.nlm.nih.gov/36458889
https://pubmed.ncbi.nlm.nih.gov/36458889
Autor:
Hannah W. Moore, Jane DeLuca, Jessica A Cooley Coleman, Steven A. Skinner, Luigi Boccuto, Sara M. Sarasua
Publikováno v:
American Journal of Medical Genetics Part A. 185:3884-3894
MEF2C-related disorders (aka MEF2C-haploinsufficiency) are caused by variations in or involving the MEF2C gene and are characterized by intellectual disability, developmental delay, lack of speech, limited walking, and seizures. Despite these finding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf43cdac6584562e2bfe4adcdfd26205
https://doi.org/10.1002/ajmg.a.62412
https://doi.org/10.1002/ajmg.a.62412
Autor:
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C Caylor, Roger E Stevenson, Caio Robledo D' Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer M Bain, Kwame Anyane-Yeboa, Kaitlyn Brown, John M Greally, Emilia K Bijlsma, Claudia A L Ruivenkamp, Keren Politi, Lydia A Arbogast, Michael W Collard, Jodi I Huggenvik, Sarah H Elsea, Philip J Jensik
Publikováno v:
Hum Mol Genet
Human Molecular Genetics, 32(3), 386-401. OXFORD UNIV PRESS
Human Molecular Genetics, 32(3), 386-401. OXFORD UNIV PRESS
De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce133e0cb7ab0932b2f68c883c636406
https://hdl.handle.net/1887/3563136
https://hdl.handle.net/1887/3563136
