Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Robert Wassman"'
Autor:
Amee Revana, E. Robert Wassman, Niva Haber, Lara C. Pullen, Terry Jo Bichell, Jessica Duis, Randy Bartlett, Christopher DeFelice, Maria Picone
Publikováno v:
Sleep Epidemiology, Vol 4, Iss , Pp 100101- (2024)
While the medical community continues to recognize the contributions of disordered sleep to the burden of Prader-Willi syndrome (PWS), the medical literature lacks characterization of the patient burden of sleep disorders by people living with PWS an
Externí odkaz:
https://doaj.org/article/4d1a4b7357c9478aaefd7767cb754073
Autor:
Maurice Flurie, Monica Converse, E. Robert Wassman, Brian LaMoreaux, N. Lawrence Edwards, Colton Flowers, Daniel Hernandez, Helen W. Hernandez, Gary Ho, Christopher Parker, Christopher DeFelice, Maria Picone
Publikováno v:
Rheumatology and Therapy, Vol 11, Iss 2, Pp 301-311 (2024)
Abstract Introduction This study aimed to characterize patient-reported outcomes from social media conversations in the gout community. The impact of management strategy differences on the community’s emotional states was explored. Methods We analy
Externí odkaz:
https://doaj.org/article/5283bc1146b34bc2be1393adb004faa1
Autor:
Deepan Singh, Jennifer L. Miller, Edward Robert Wassman, Merlin G. Butler, Allison Foley Shenk, Monica Converse, Maria Picone
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11574 (2023)
Prader–Willi syndrome (PWS) is a neuroendocrine genetic disorder resulting from the loss of paternally expressed imprinted genes in chromosome 15q11-q13 [...]
Externí odkaz:
https://doaj.org/article/b47b240fe3014133acafb2bc8aa46bb4
Autor:
Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide
Externí odkaz:
https://doaj.org/article/6007780ec2fa4da7a8189fa02220cd7a
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Purpose To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information
Externí odkaz:
https://doaj.org/article/e5334349663545629e70e82e9657fe67
Publikováno v:
Journal of Kidney Cancer and VHL, Vol 2, Iss 1, Pp 1-14 (2015)
Operative removal of oncocytomas is generally unnecessary, but not infrequent in the context of renal masses. The infrequent use of pre-nephrectomy biopsies is a function of historical limitations of histopathological differential diagnosis in this s
Externí odkaz:
https://doaj.org/article/a1bf5ac687064deb999b322728715812
Autor:
John Peabody, Megan Martin, Lisa DeMaria, Jhiedon Florentino, David Paculdo, Michael Paul, Rena Vanzo, E Robert Wassman, Trever Burgon
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0169064 (2016)
Developmental disorders (DD), including autism spectrum disorder (ASD) and intellectual disability (ID), are a common group of clinical manifestations caused by a variety of genetic abnormalities. Genetic testing, including chromosomal microarray (CM
Externí odkaz:
https://doaj.org/article/48c4c379919b451985902ee29fc3baff
Autor:
Aparna Prasad, Richard G. Boles, Temple Grandin, Charles H. Hensel, E. Robert Wassman, Alexander Kaplun, Moises A. Serrano, Lauren Staunch, Rena Vanzo
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 21, p 21 (2021)
Journal of Personalized Medicine
Journal of Personalized Medicine
Autism spectrum disorder (ASD) is a heterogeneous condition with a complex genetic etiology. The objective of this study is to identify the complex genetic factors that underlie the ASD phenotype and other clinical features of Professor Temple Grandi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7acbedf082ad4034bade97c73fa0d13
https://www.mdpi.com/2075-4426/11/1/21
https://www.mdpi.com/2075-4426/11/1/21
Autor:
Aparna Prasad, Megan M. Martin, E. Robert Wassman, Rena Vanzo, Sarah T. South, Karen S. Ho, Hope Twede
Publikováno v:
European Journal of Medical Genetics. 62:15-20
Copy number variants (CNV)s involving KANK1 are generally classified as variants of unknown significance. Several clinical case reports suggest that the loss of KANK1 on chromosome 9p24.3 has potential impact on neurodevelopment. These case studies a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e639a5b950594bb1c0725e00ebe3a1
https://doi.org/10.1016/j.ejmg.2018.04.012
https://doi.org/10.1016/j.ejmg.2018.04.012
Autor:
Karen S. Ho, E. Robert Wassman, Adrianne L. Baxter, Charles H. Hensel, Megan M. Martin, Aparna Prasad, Hope Twede, Rena J. Vanzo, Merlin G. Butler
Publikováno v:
International Journal of Molecular Sciences, Vol 17, Iss 12, p 2070 (2016)
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its im
Externí odkaz:
https://doaj.org/article/2330efd86d5e43a294040be62ec7a272