Results 211 to 220 of about 7,998,845 (308)

P383: Genetic counseling for clinical sequencing: Addressing variants of uncertain significance in rare disease diagnosis

Genetics in Medicine Open
Sumin Ji, Hyon Kim
doaj   +1 more source

Editorial: Molecular diagnostics for cardiovascular rare disease. [PDF]

Front Mol Biosci
Bobbio E, Caiazza M, Limongelli G, Loffredo F.   +3 more
europepmc   +1 more source

Diffuse MRI Edema Predicts Relapse in Cerebral Amyloid Angiopathy–Related Inflammation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify MRI predictors of relapse and quantify relapse and mortality risk in cerebral amyloid angiopathy–related inflammation (CAA‐RI). A secondary objective was to assess the association between mycophenolate mofetil use and relapse risk. Methods We performed a retrospective cohort study of 36 patients with CAA‐RI treated at the
G. Abbas Kharal, Gowtham Yerneni, Kim J. Griffin, Nicolas Thompson, Ken Uchino, Irene Katzan, Dolora Wisco, Abeer Farrag, Jayashree Sundarajan, Andrew Russman, M. Shazam Hussain   +10 more
wiley   +1 more source

A Neutral Comparison of Multivariate Hypothesis Tests for Parallel Group Designs in Rare Disease Settings. [PDF]

Stat Med
Geroldinger M, Laimer M, Wally V, Bauer JW, Zimmermann G.   +4 more
europepmc   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Innovative Clinical Pharmacology, Modeling, and Simulation Strategies for Accelerating Rare Disease Drug Development. [PDF]

J Clin Pharmacol
Oberoi RK, Peer CJ, Tripathi A, Mohammad AS, Sun Y, Der K, Song Y, Huang J, Upreti VV.   +8 more
europepmc   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Detecting comorbidity patterns in rare disease patients with machine learning. [PDF]

Front Epidemiol
Connor BM, Hill C, Bai L, McKnight AJ, Jurek-Loughrey A.   +4 more
europepmc   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong, Yuping Xiao, Yuhan Wu, Ziyuan Huang, Weishan Liang, Li Xiao, Yaqing Shu, Tingting Lu, Yanyu Chang, Wei Qiu, Yuge Wang   +10 more
wiley   +1 more source

Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025. [PDF]

J Community Genet
Clarke A, Horn R, Avram E, Banka S, Boardman F, Charlton V, Drummond M, Favresse R, Ferdinand A, Freis D, Galasso I, Großmann NZ, Halley M, Henriques S, Honné H, Houge SD, Kirmani S, Klaiman TN, Lalova-Spinks T, Malmgren CI, Meade N, Nicod E, Ormond KE, Prainsack B, Van Esch H, Wonkam A, Wynn SL, Forzano F.   +27 more
europepmc   +1 more source