Results 151 to 160 of about 516,925 (316)
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom +5 more
wiley +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Idiopathic intracranial hypertension in pediatric patients
, 2008 Nada Jirásková, Pavel RozsívalDepartment of Ophthalmology, University Hospital, Hradec Králové, Czech RepublicPurpose: To evaluate retrospectively the features, treatment, and outcome of idiopathic ...
Nada Jirásková +1 more
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Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source
Idiopathic noncirrhotic portal hypertension: current perspectives
, 2016 Oliviero Riggio,1 Stefania Gioia,1 Ilaria Pentassuglio,1 Valeria Nicoletti,1 Michele Valente,2 Giulia d’Amati2 1Department of Clinical Medicine, Center for the Diagnosis and Treatment of Portal Hypertension, 2Department of Radiological, Oncological,
Riggio O +5 more
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International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Olfactory dysfunction is a hallmark feature of COVID‐19, yet the potential for recovery with long‐standing COVID‐19‐related smell loss (CRSL) remains uncertain, particularly when treatment is initiated years later. This study evaluated olfactory outcomes in patients with CRSL compared with non‐COVID‐19‐related smell loss (non‐CRSL),
John W. Hunsicker +6 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Idiopathic Fascicular Ventricular Tachycardia
, 2004 Idiopathic fascicular ventricular tachycardia is an important cardiac arrhythmia with specific electrocardiographic features and therapeutic options. It is characterized by relatively narrow QRS complex and right bundle branch block pattern. The QRS axis
Anoop K. Gupta +9 more
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