Results 251 to 260 of about 110,885 (306)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Cataract Update

Saudi Journal of Ophthalmology, 2012
openaire   +2 more sources

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess the neurological and neurodevelopmental outcome of infants born at term with perinatal intracranial haemorrhage (pICH) and examine the clinical and neuroimaging associations. Method A prospective, consecutive, single‐center observational study of longitudinally followed children with pICH identified in the fetal or neonatal ...
Stephanie Libzon, Shelly I. Shiran, Aviva Fattal‐Valevski, Nira Schneebaum‐Sender, Jonathan Roth, Shlomi Constantini, Gustavo Malinger, Karina Krajden Haratz, Liat Ben Sira, Moran Hausman‐Kedem   +9 more
wiley   +1 more source

Distribution of Ophthalmology Grant Opportunities and Variation Amongst Subspecialties in Australia

Clinical &Experimental Ophthalmology, EarlyView.
Benjamin Cook, Thomas Muecke, Stephen Bacchi, Weng Onn Chan   +3 more
wiley   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, EarlyView.
Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment. The pathogenesis of these lesions encompasses a range of causes, including haemorrhagic, embolic, or other vascular events; exposure to teratogens, such as drugs or substance
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus has been implicated in a mitochondrial disorder characterized by prenatal or ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source

Global, regional and national burden of blindness and vision loss attributable to diabetic retinopathy, 1990–2021: A systematic analysis for the Global Burden of Disease Study 2021

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Aims Diabetes is increasingly reported as a cause of blindness and vision loss. However, the trends in the burden of blindness and vision loss attributed to diabetic retinopathy (DR) have yet to be fully elucidated. Materials and Methods Utilizing the latest data from the Global Burden of Disease Study 2021, we extracted prevalence and years ...
Yujie Pan, Yunkuo Li, Mengzhao Cui, Guangyu He, Guixia Wang   +4 more
wiley   +1 more source

Cerebrotendinous xanthomatosis: A report of 3 cases

JAAD Case Reports, 2020
Katharine Saussy, MD, Neelesh Jain, BS, Andrea Murina, MD   +2 more
doaj  

Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)

Journal of Cutaneous Pathology, EarlyView.
Cathal O'Connor, Neidín Bussmann, Sarah Ni Mhaolcatha, Cynthia Heffron, Sally O'Shea   +4 more
wiley   +1 more source