Results 81 to 90 of about 10,250,216 (364)

Advances in Clinical Genetics of the Ehlers-Danlos Syndromes

罕见病研究
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan   +8 more
doaj   +1 more source

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia

iScience, 2022
Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du, Fan Li, Linyi Li, Yu Wang, Jianping Li, Ya Yang, Long Jiang, Luya Wang, Yanwen Qin   +8 more
doaj   +1 more source

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results [PDF]

, 2019
Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio ...
Acerbi, Francesco, Baracchini, Claudio, Bedini, Gloria, Bersano, Anna, Binelli, Simona, Blecharz, Kinga, Bono, Giorgio, Bruzzone, Maria Grazia, Calloni, Maria Vittoria, Capone, Fioravanti, Capra, Valeria, Caputi, Luigi, Caria, Filomena, Carolei, Antonio, Caso, Valeria, Cenzato, Marco, Ciceri, Elisa, Ciusani, Emilio, De Lodovici, Maria Luisa, Dell' Acqua, Maria Luisa, Di Lazzaro, Vincenzo, Di Piero, Vittorio, Esposito, Silvia, Faragò, Giuseppe, Farina, Filippo, Ferroli, Paolo, Franceschetti, Silvana, Fratianni, Alessia, Gioppo, Andrea, Grisoli, Marina, Lanfranconi, Silvia, Lasserve, Elisabeth Tournier, Marzoli, Stefania Bianchi, Nardocci, Nardo, Nava, Sara, null, null, Paciaroni, Maurizio, Pantaleoni, Chiara, Pantoni, Leonardo, Parati, Eugenio Agostino, Pavanello, Marco, Perrone, Patrizia, Pezzini, Alessandro, Prontera, Paolo, Raso, Alessandro, Riva, Daria, Romani, Alfredo, Sacco, Simona, Saletti, Veronica, Sanguigni, Sandro, Sarti, Cristina, Sebastiano, Davide Rossi, Toni, Danilo, Toscano, Massimiliano, Vajkoczy, Peter, Zedde, Maria Luisa, Zibordi, Federica, Zini, Andrea   +57 more
core   +1 more source

What to Do When Medical Evidence Can Only Be Generated Through Routine Data: An Example From Pediatric Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children undergoing allogeneic stem cell transplantation often receive off‐label rituximab treatment for Epstein–Barr virus reactivation, using adult dosing without pediatric evidence. This project aims to develop a clinical decision support tool (CDSS) that provides evidence‐based dosing scenarios by analyzing real‐world patient data.
Birgit Burkhardt, Antje Walz, Dietrich Knoerzer   +2 more
wiley   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

The MedSupport Multilevel Intervention to Enhance Support for Pediatric Medication Adherence: Development and Feasibility Testing

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction We developed MedSupport, a multilevel medication adherence intervention designed to address root barriers to medication adherence. This study sought to explore the feasibility and acceptability of the MedSupport intervention strategies to support a future full‐scale randomized controlled trial.
Elizabeth G. Bouchard, Hital Patel, Paula C. Vincent, Justine Kahn, Kira Bona, Thai Hoa Tran, Elisa M. Rodriguez, Kristopher Attwood, Kara M. Kelly   +8 more
wiley   +1 more source

Decreased FMR1 mRNA levels found in men with substance use disorders

Heliyon, 2020
FMR1 gene (fragile X mental retardation 1) represents a genetic and epigenetic factor in a number of human diseases. Though the role of FMR1 gene in substance use disorders (SUDs) is not well studied, a number of investigations indicate that SUDs and ...
Maria Krasteva, Yana Koycheva, Rositsa Racheva, Teodora Taseva, Tsveta Raycheva, Stiliana Simeonova, Boryan Andreev   +6 more
doaj   +1 more source

Can Clinical Genetics Laboratories be Sued for Medical Malpractice? [PDF]

Ann Health Law Life Sci, 2020
Foulkes AL, Roberts JL, Appelbaum PS, Chung WK, Clayton EW, Evans B, Marchant GE.   +6 more
europepmc   +2 more sources

What\u27s in a Name? New Bacterial Species and Changes to Taxonomic Status from 2012 through 2015 [PDF]

, 2017
Technological advancements in fields such as molecular genetics and the human microbiome have resulted in an unprecedented recognition of new bacterial genus/species designations by the International Journal of Systematic and Evolutionary Microbiology ...
Carroll, Karen C., Munson, Erik
core   +1 more source

Prevalence of disorders recorded in Cavalier King Charles Spaniels attending primary-care veterinary practices in England [PDF]

, 2015
Concerns have been raised over breed-related health issues in purebred dogs, but reliable prevalence estimates for disorders within specific breeds are sparse.
Brodbelt, D C, Church, D B, McGreevy, P D, O'Neill, D G, Summers, J F, Thomson, P C   +5 more
core   +3 more sources