Results 41 to 50 of about 17,949 (246)

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

The genetic basis of Parkinson's disease

Неврология, нейропсихиатрия, психосоматика, 2017
Parkinson's disease (PD) is a multifactorial disease that develops in the presence of both genetic and environmental factors. In recent years, there has been sufficient information on the role of genetic predisposition in the development of not only ...
A. A. Tappakhov, T. E. Popova, T. Ya. Nikolaeva, P. I. Gurieva, N. A. Shnaider, M. M. Petrova, M. R. Sapronova   +6 more
doaj   +1 more source

A rare association of congenital fibrosis of extraocular muscles with keratoconus and bilateral sensorineural hearing loss: A co-incidence or some syndrome?

The Pan-American Journal of Ophthalmology, 2021
Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disorder characterized by unilateral or bilateral horizontal and/or vertical gaze impairment with ptosis.
Anupam Singh, Shrinkhal, Kavya Subramanian, Aarzoo Juneja, Aditi Saini, Barun Kumar   +5 more
doaj   +1 more source

The impact of COVID‐19 pre‐university education on first‐grade medical students. A performance study of students of a Department of Histology

Anatomical Sciences Education, Volume 18, Issue 3, Page 254-263, March 2025.
Abstract The recent coronavirus disease (COVID‐19) forced pre‐university professionals to modify the educational system. This work aimed to determine the effects of pandemic situation on students' access to medical studies by comparing the performance of medical students.
José Manuel García, David Sánchez‐Porras, Miguel Etayo‐Escanilla, Paula Ávila‐Fernández, Olimpia Ortiz‐Arrabal, Miguel‐Ángel Martín‐Piedra, Fernando Campos, Óscar‐Darío García‐García, Jesús Chato‐Astrain, Miguel Alaminos   +9 more
wiley   +1 more source

Stuttering: Genetic updates and a case report

Advanced Biomedical Research, 2012
Developmental stuttering is a common disorder of speech dissiliency that is characterized by excessive repetitions of sounds, syllables, and monosyllabic words, as well as sound prolongations and complete blockages of the vocal tract.
Nayerossadat Nouri, Nargesossadat Nouri, Hossein Abdali, Meisam Shafie, Hamid Karimi   +4 more
doaj   +1 more source

Risk of venous thromboembolism after SARS‐CoV‐2 vaccination—Evidence from genome‐wide association study and population‐based observational study

British Journal of Clinical Pharmacology, EarlyView.
Aim We aimed to investigate whether genetic variation is associated with venous thromboembolism after immunization with SARS‐CoV‐2 vaccines. Methods We conducted a genome‐wide association study (GWAS) on cases of venous thromboembolism within 42 days after SARS‐CoV‐2 vaccination, recruited from reports of adverse drug reactions sent to the Swedish ...
Sofia Attelind, Niclas Eriksson, Marco Cavalli, Yiyi Xu, Fredrik Nyberg, Anders Sundström, Mia Wadelius, Pär Hallberg   +7 more
wiley   +1 more source

Genetic specificity to 6-n-propylthiouracil and its association to dental caries: A Comparative study

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2017
Introduction: Dental caries is one of the most prevalent infectious diseases to affl ict humanity. Although caries has multifactorial etiology, inherited genetic behavior and taste threshold may play an important role on caries.
Vidya B Vandal, Hina Noorani, P K Shivaprakash, Basavaraj Walikar   +3 more
doaj   +1 more source

Considerations for drug trials in hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant, Matthias Schmitt, Anna B. Reid, Clifford J. Garratt, William G. Newman, Aneil Malhotra, Rhys Beynon, Masliza Mahmod, Betty Raman, Robert M. Cooper, Dana Dawson, Thomas Green, Sanjay K. Prasad, Anvesha Singh, Susanna Dodd, Hugh Watkins, Stefan Neubauer, Christopher A. Miller   +17 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Y-chromosome based evidence for pre-neolithic origin of the genetically homogeneous but diverse Sardinian population: inference for association scans.

PLoS ONE, 2008
The island of Sardinia shows a unique high incidence of several autoimmune diseases with multifactorial inheritance, particularly type 1 diabetes and multiple sclerosis.
Daniela Contu, Laura Morelli, Federico Santoni, Jamie W Foster, Paolo Francalacci, Francesco Cucca   +5 more
doaj   +1 more source