Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Angita, Jain"'
Autor:
Dacre R. T. Knight, Katelyn A. Bruno, Ayush Singh, Bala Munipalli, Shilpa Gajarawala, Mahima Solomon, S. Christian Kocsis, Ashley A. Darakjian, Angita Jain, Emily R. Whelan, Archana Kotha, David J. Gorelov, Sabrina D. Phillips, DeLisa Fairweather
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundDefective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects.MethodsWe conducted a retrospective chart review of adult patien
Externí odkaz:
https://doaj.org/article/191b349a345f47d08a3977898b563d03
Publikováno v:
Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after symptom onset. Numerous genes have been implicated in this di
Externí odkaz:
https://doaj.org/article/b0217749f2ae4ae08f555de3d45ea4c0
Autor:
DeLisa Fairweather, Katelyn A. Bruno, Ashley A. Darakjian, Barbara K. Bruce, Jessica M. Gehin, Archana Kotha, Angita Jain, Zhongwei Peng, David O. Hodge, Todd D. Rozen, Bala Munipalli, Fernando A. Rivera, Pedro A. Malavet, Dacre R. T. Knight
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
BackgroundJoint pain is a common symptom in patients with hypermobile Ehlers-Danlos Syndrome (hEDS), hypermobility spectrum disorders (HSD) and fibromyalgia. The goal of this study was to determine whether symptoms and comorbidities overlap in patien
Externí odkaz:
https://doaj.org/article/9a38cc6f5b624b20a5b7c3be90f83883
Publikováno v:
Journal of Clinical and Translational Science, Vol 7, Pp 107-108 (2023)
OBJECTIVES/GOALS: The purpose of this study is to develop a clinically relevant mouse model of Radiation-Induced Heart Disease (RIHD) and characterize the resulting phenotype to find biomarkers and therapeutic targets as well as to understand the cha
Externí odkaz:
https://doaj.org/article/496ad6dafb7a47cfb598dd37231b0c66
Autor:
Jacob Eckstein, Erin Healy, Angita Jain, Daniel Hawkins, Quoc‐Anh Ho, Amit Agrawal, Enver Ozer, Robert Rupert, Virginia M. Diavolitsis, Aashish D. Bhatt
Publikováno v:
Clinical Case Reports, Vol 8, Iss 11, Pp 2259-2264 (2020)
Abstract Bazex syndrome is a rare paraneoplastic dermatosis that precedes diagnosis of cancer. Awareness of this syndrome is important, as it allows early detection of underlying malignancy and may prevent misdiagnosis and delays in cancer treatment.
Externí odkaz:
https://doaj.org/article/f34ddff6acb04a7d9bff5ce4f6aecdcb
Autor:
Katta Lavanya, Karishma Mahtani, Jessica Abbott, Angita Jain, Pavalan Selvam, Herjot Atwal, Houssam Farres, Paldeep S. Atwal
Publikováno v:
American Journal of Medical Genetics Part A. 188:2192-2197
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::470b92bc5f1a3045206d6b88e63dd520
https://doi.org/10.1002/ajmg.a.62745
https://doi.org/10.1002/ajmg.a.62745
Autor:
Pavalan Selvam, Angita Jain, Jessica Abbott, Abhimanyu S. Ahuja, Anvir Cheema, Katelyn A. Bruno, Herjot Atwal, Irman Forghani, Thomas Caulfield, Paldeep S. Atwal
Publikováno v:
Molecular Syndromology. :1-8
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome. To our knowledge, this is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1bb63432bfa18da1c4e433fab12411e
https://doi.org/10.1159/000519326
https://doi.org/10.1159/000519326
Autor:
Dacre R T, Knight, Sunnie M, Confiado, Katelyn A, Bruno, DeLisa, Fairweather, Andrea M, Seymour-Sonnier, Angita, Jain, Jessica M, Gehin, Emily R, Whelan, Joshua H, Culberson, Bala, Munipalli, Nancy L, Dawson, Todd D, Rozen, Joseph J, Wick, Archana, Kotha
Publikováno v:
SN Comprehensive Clinical Medicine. 4
In a large academic medical center, patient requests from the community and internal referrals for evaluation of suspected hypermobility conditions were being denied consultation because services specific to this condition were not available. We iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e0a000c4be7ef1a47dd5230217c38e
https://doi.org/10.1007/s42399-022-01218-w
https://doi.org/10.1007/s42399-022-01218-w
Publikováno v:
American Journal of Medical Genetics Part A. 185:539-543
Casein kinase 2-related disorders have been linked to pathogenic variants in CSNK2A1 and CSNK2B. CSNK2B-related disease is predominantly associated with neurodevelopmental abnormalities affecting cognition; however, the extent of the phenotype associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc3e2d5f7bfcca8eb5d7863a544d2115
https://doi.org/10.1002/ajmg.a.61960
https://doi.org/10.1002/ajmg.a.61960
Autor:
Daniel Hawkins, Angita Jain, V.M. Diavolitsis, Aashish D. Bhatt, Jacob Matthew Eckstein, Robert Rupert, Quoc‐Anh Ho, Amit Agrawal, Enver Ozer, E. Healy
Publikováno v:
Clinical Case Reports, Vol 8, Iss 11, Pp 2259-2264 (2020)
Clinical Case Reports
Clinical Case Reports
Bazex syndrome is a rare paraneoplastic dermatosis that precedes diagnosis of cancer. Awareness of this syndrome is important, as it allows early detection of underlying malignancy and may prevent misdiagnosis and delays in cancer treatment.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0e4b00de0cdc3777d32a4e7498eaaf1
https://doi.org/10.1002/ccr3.3133
https://doi.org/10.1002/ccr3.3133