Results 141 to 150 of about 3,637 (271)

Oral Health and Well‐Being: Insights From Personal Narratives of Losing Teeth and Living With Dentures

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To explore how individuals who have lost or have missing teeth and subsequently received dentures make sense of the factors influencing their oral health and well‐being. Methods Thematic and structural narrative analysis was used to evaluate 19 semi‐structured interview transcripts from a secondary dataset of United Kingdom adults ...
Heba Ramadan Salama, Jennifer Burr, Claire Elcock, Barry John Gibson   +3 more
wiley   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Unravelling the phylogeny of armadillos and their kin (Mammalia, Xenarthra, Cingulata) combining morphological, molecular, and stratigraphic data

Cladistics, EarlyView.
Abstract Cingulata, a major lineage of Xenarthra, comprises extinct and extant armoured placental mammals that diversified throughout the Cenozoic. Despite extensive study, phylogenetic hypotheses based on morphological and molecular data remain incongruent, and no total evidence analysis has been conducted. Here, we integrate the largest morphological
Daniel M. Casali, Mariela C. Castro, Martin R. Ciancio, Timothy J. Gaudin, Jeremy L. Bramblett, Alberto Boscaini, Fernando A. Perini, Max C. Langer   +7 more
wiley   +1 more source

Collagen Membrane Fixation Technique Affects Its Space Maintenance Capacity After Flap Closure: An Ex Vivo Analysis

Clinical Oral Implants Research, EarlyView.
ABSTRACT Aims To quantify immediate graft displacement following tension‐free flap closure in non‐contained alveolar ridge defects regenerated using three membrane fixation strategies in an ex vivo human model. Methods Eighteen sites from six fresh cadaveric heads with non‐contained defects underwent horizontal guided bone regeneration using ...
Muhammad H. A. Saleh, Javier Calatrava, Nataly Zambrana, Lucrezia Parma‐Benfenati, Hamoun Sabri, Istvan Urban, Hom‐Lay Wang   +6 more
wiley   +1 more source

Clinical Outcomes, Success/Failure Patterns, and Complications of Microscrew-Assisted Rapid Palatal Expansion in Post-Pubertal Transverse Maxillary Deficiency: A Scoping Review. [PDF]

Dent J (Basel)
Butrón-Téllez Girón C, Flores-Arriaga JC, Oliva-Buhaya D, Martínez-Zumarán A, Pozos-Guillén A, Garrocho-Rangel A.   +5 more
europepmc   +1 more source

Mental health difficulties in cerebral palsy: A qualitative study of young people's and parents' perspectives

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan, Jennifer Fortune, Jessica Burke, Aisling Walsh, Aoife Twohig, Ian McClelland, Amanda Breen, Meriel Norris, Jennifer M. Ryan, RELATE‐CP study team, Reuel Jalal, Mary Cannon, Kimberley J Smith, Michael Walsh, Ruth Kevlin, Claire Kerr   +15 more
wiley   +1 more source