Results 191 to 200 of about 24,165 (274)

Let's Co! The how‐to of working within a co‐production framework to devise, design and execute collaborative multisite clinical trials

British Journal of Clinical Psychology, EarlyView.
Abstract Objectives To document the steps undertaken in a full collaborative co‐production design process undertaken between a group of lived experience, clinical and research collaborators to determine the selection and design of three large‐scale, multisite, clinically focused studies (including two clinical trials) targeting eating disorders.
Sarah Maguire, Genevieve Pepin, Shannon Calvert, Stephanie Boulet, Sanna Barrand, Emma Bryant, Leah Brennan, Antonio Verdejo‐Garcia, Leilani Darwin, Claire Foldi, Elizabeth Rieger, Stephen Touyz, Bronwyn Carroll, Sam Ikin, Fiona Mitchell, Julian Robinson, Anna Rose, Sarah Barakat, Kristi Griffiths, Ian Hickie, Robyn Kruk, Melissa Pehlivan, Anita Raspovic, Peta Marks   +23 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Neurodivergence and well‐being: The fulfilment of fundamental psychological needs, work‐related stress and life satisfaction

British Journal of Psychology, EarlyView.
Abstract This paper presents two complementary studies on the impact of neurodivergent conditions such as autism, AD(H)D, dyslexia/dyscalculia and giftedness on well‐being. In Study 1, survey data from 2157 participants in a true probabilistic sample of Dutch households show that respondents with autism and ADHD report significantly lower life ...
Jan van Rijswijk, Petru Lucian Curșeu
wiley   +1 more source

Review: Co‐occurring psychiatric disorders and symptomatology among children and adolescents with neurodevelopmental disorders – an umbrella review with individual study meta‐analysis

Child and Adolescent Mental Health, EarlyView.
Background Neurodevelopmental disorders (NDDs), including attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), intellectual disability (ID), and specific learning disorders (SLD), frequently co‐occur with psychiatric conditions (e.g. anxiety, depression).
Kathryn Fortnum, Noah Erskine, John Cairney, Matthew Y. W. Kwan, Matthew Bourke   +4 more
wiley   +1 more source

Attentional atypicalities in autism spectrum disorder and the broader autism phenotype

Cadernos de Pós-Graduação em Distúrbios do Desenvolvimento, 2018
openaire   +1 more source

Asthma and Multimorbidity Amongst Ethnic Minority Groups in High Income Countries

Clinical &Experimental Allergy, EarlyView.
There is a tight intersection between asthma, deprivation, ethnicity, multimorbidity and poor clinical outcomes. An integrated, holistic and culturally tailored approach is needed to improve clinical outcomes amongst ethnic minority groups with asthma and multimorbidity. ABSTRACT Asthma is one of the commonest noncommunicable diseases worldwide.
Mamidipudi Thirumala Krishna, Saibal Moitra, Anna Freeman, Ben Ainsworth, Rebecca Knibb, Ramesh Kurukulaaratchy, Adel H. Mansur   +6 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies

Developmental Medicine &Child Neurology, EarlyView.
Abstract After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience cognitive, language, and behavioural delays, with reported rates of neurodevelopmental difficulties ranging ...
Giorgia Coratti, Bianca Buchignani, Eugenio Mercuri   +2 more
wiley   +1 more source