Results 241 to 250 of about 247,558 (284)

Does Sickle Cell Anaemia Have a Relationship With Avascular Pulp Necrosis? A Systematic Review

Australian Endodontic Journal, EarlyView.
ABSTRACT This systematic review examined the relationship between sickle cell disease (SCD), an inherited genetic hemoglobinopathy, and avascular pulp necrosis (APN) in intact teeth. A comprehensive search of eight electronic databases was performed up to December 2024.
Elidiane Elias Ribeiro, Karin Sá Fernandes, Erika Sales Joviano Pereira, Angelica Maria Cupertino Lopes Marinho, Jefferson R. Tenório, Márcia Pereira Alves dos Santos   +5 more
wiley   +1 more source

Ovarian microcystic stromal tumor: a case report and literature review. [PDF]

Int J Clin Exp Pathol
Liu Q, Li L.
europepmc   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Joint analysis of <i>de novo</i> mutations from autism spectrum disorder, schizophrenia, congenital heart disease, and other developmental disorders improves detection power and implicates shared molecular pathways and CNS processes. [PDF]

NAR Genom Bioinform
Kealhofer M, Brown R, Riley BP, Nguyen TH.   +3 more
europepmc   +1 more source

Oral mucosal manifestations with identical mutations to the bone marrow in a patient with VEXAS syndrome

Rheumatology &Autoimmunity, EarlyView.
Lilian Vasaitis, Lena Blomstrand, Tatjana Pandzic, Miklos Gulyas, Panagiotis Baliakas, Viktor Ljungström   +5 more
wiley   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology, EarlyView.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy, Timothy G. Barrett, Renuka P. Dias   +6 more
wiley   +1 more source

Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study. [PDF]

J Int Med Res
Li SG, Wei CQ, Su DY, Chen C, Qin SY, Ye BB, Pang YS.   +6 more
europepmc   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, EarlyView.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R, Li X, Yue H, Xu Y, Wei Z, Xu S, Li B, Zhang Z.   +7 more
europepmc   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source