Results 131 to 140 of about 30,229 (249)

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy. [PDF]

Cureus
Quaicoe ASP, Cornish EE, Chong R.
europepmc   +1 more source

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome. [PDF]

Mol Genet Metab Rep, 2020
Eisengart JB, King KE, Shapiro E, Whitley CB, Muenzer J.   +4 more
europepmc   +1 more source

Case Report: Bow Hunter Syndrome-One Reason to Add Non-gravity Dependent Positional Nystagmus Testing to Your Clinical Neuro-Otologic Exam. [PDF]

Front Neurol, 2021
Schubert MC, Carter N, Lo SL.
europepmc   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome. [PDF]

Arq Neuropsiquiatr
Sheikh M, Thein I, Abrams KJ, Freitas LF.   +3 more
europepmc   +1 more source

Transcatheter aortic valve implantation for severe aortic stenosis in a patient with mucopolysaccharidosis type II (Hunter syndrome) accompanied by severe airway obstruction. [PDF]

J Cardiol Cases, 2022
Mori N, Kitahara H, Muramatsu T, Matsuura K, Nakayama T, Matsumiya G, Kobayashi Y.   +6 more
europepmc   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome. [PDF]

EMBO Mol Med
Catalano F, Stevic D, Zundo G, Huizer TF, Dammou Z, Vlaar EC, Katsavelis D, van den Bosch JC, van den Hout HJMP, Oussoren E, van der Ploeg AT, Ruijter GJG, Schaaf G, Pijnappel WWMP.   +13 more
europepmc   +1 more source

Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis. [PDF]

J Audiol Otol, 2021
Kim H, An JY, Choo OS, Jang JH, Park HY, Choung YH.   +5 more
europepmc   +1 more source