Results 171 to 180 of about 79,932 (302)

Correction: A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility

Frontiers in Endocrinology
Qian Zhao, Huifang Peng, Jiali Chen, Hui Zhang, Yujin Ma, Hongwei Jiang   +5 more
doaj   +1 more source

AA amyloidosis in the four historical monogenic autoinflammatory diseases: Clinical burden and insights from a retrospective referral-centre study. [PDF]

J Intern Med
El Moussaoui M, Savey L, Aloui-Belhocine HS, Boffa JJ, Delplanque M, Grandpeix-Guyodo C, Giurgea I, Cuisset L, Boursier G, Grateau G, Buob D, Georgin-Lavialle S.   +11 more
europepmc   +1 more source

Continuous Intrajejunal Levodopa–Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series

Movement Disorders Clinical Practice, EarlyView.
Abstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Valle Victor Andrés, Jardel Amory, Hopes Lucie, Clément Guillemette, Lambert Laetitia, Becker Aurélie, Dexheimer Mylène, Bonnet Céline, Frismand Solène, Renaud Mathilde, Puisieux Salomé   +10 more
wiley   +1 more source

Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western Romania. [PDF]

Med Sci (Basel)
Gug M, Andreescu N, Chicea ED, Rațiu A, Farcaș S, Marin I, Țîcău S, Gug C.   +7 more
europepmc   +1 more source

Balancing automation and expertise: real-world evaluation of AI-assisted whole-exome sequencing in lupus-causing genes. [PDF]

Lupus Sci Med
Madenidou AV, Rice GI, Garner T, Dyball S, Parker B, Chieng A, Stevens A, Bruce IN, Briggs TA.   +8 more
europepmc   +1 more source

Familial short stature: genetic architecture, risk stratification, and precision management. [PDF]

Front Endocrinol (Lausanne)
Zhang C, Wu N, Gong M, Yang M, Meng L, Xin Y.   +5 more
europepmc   +1 more source

What we can learn about biology from monogenic diseases; KIF11 and the glymphatic and lymphatic-like system of the retina and choroid and its possible role in the pathogenesis of pachychoroid and central serous chorioretinopathy. [PDF]

Int J Retina Vitreous
Pulido JS, Arevalo JF, Farrell LC, Muste JC.   +3 more
europepmc   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Diagnostic Approach to Genetic Obesity in Children: From Pathophysiology to Precision Medicine-A Narrative Review. [PDF]

Medicina (Kaunas)
Partenope C, Rabbone I, Pajno R.
europepmc   +1 more source