Results 71 to 80 of about 3,939 (213)

Integrative taxonomy of the Ceratozamia mexicana Brongn. (Zamiaceae) species complex from a phylogeographic perspective

Plant Species Biology, EarlyView.
Recent research has ignited a renewed interest in Ceratozamia cycads, unveiling their remarkable diversity. While previous studies primarily focused on morphology, this investigation employs a multidisciplinary approach, integrating phylogenetics, morphology, and ecological niches. Our methods identify seven distinct lineages as separate species.
Anwar Medina‐Villarreal, Jorge González‐Astorga, Alejandro Espinosa de los Monteros   +2 more
wiley   +1 more source

Investigating potential tactile strategies of students with deafblindness: An exploratory study

Journal of Research in Special Educational Needs, EarlyView.
Abstract The purpose of this study was to investigate and describe tactile exploratory behaviours and strategies applied by students with deafblindness when they actively explore objects by touch in terms of their texture and weight. For the needs of the present study, a Delphi consultation methodology was applied by the authors and special education ...
Maria Papazafiri, Vassilios Argyropoulos
wiley   +1 more source

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts [PDF]

, 2021
Childhood cataract affects 2.5–3.5 per 10,000 children in the UK, with a genetic mutation identified in 50–90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular ...
Bell, S, Lloyd, IC, Malka, S, Moosajee, M   +3 more
core   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, EarlyView.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Monitoring clinical quality in rare disease services – experience in England [PDF]

, 2008
After some well-publicised problems with paediatric cardiac surgery, there has been great interest in England in monitoring clinical quality in specialised medical services.
A Fogarty, B Crandall, C Liu, C Sherlaw-Johnson, Edmund G Jessop, G Klein, I Kennedy, J Lovegrove, J Poloniecki, J Shanteau, JC Benneyan, JC Benneyan, JD Marshall, L Scahill, M Rao, P Maffei, R Haynes, S Charman, S Nadarajah, Thomas D Kenny, William H Gutteridge, WK Goodman, WK Goodman   +22 more
core   +3 more sources

Young‐onset type 2 diabetes—Epidemiology, pathophysiology, and management

Journal of Diabetes Investigation, EarlyView.
The burden of young‐onset type 2 diabetes is increasing globally, disproportionately affecting non‐White ethnic groups and low‐ and middle‐income countries. Young‐onset type 2 is more heterogeneous regarding the genetic and environmental contributions to its underlying pathophysiology, which poses challenges for glycemic management.
Andrea O.Y. Luk, Hongjiang Wu, Yingnan Fan, Baoqi Fan, Chun Kwan O, Juliana C.N. Chan   +5 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases [PDF]

, 2021
The aim of this thesis is to present a detailed assessment of the phenotypes and genotypes of rare retinal dystrophies with systemic associations (syndromes).
Nasser, Fadi
core   +1 more source

Weight status of children and adolescents with autism spectrum disorder: A cross‐sectional analysis of primary care electronic medical records and linked health administrative datasets in Ontario, Canada

Pediatric Obesity, Volume 20, Issue 6, June 2025.
Summary Background Individuals with autism spectrum disorder (ASD) may be at increased risk of both obesity and underweight. Objective To examine the association between ASD and weight status in children and adolescents, adjusting for individual‐ and neighbourhood‐level sociodemographic factors.
Laura M. Kinlin, Natasha R. Saunders, Sarah Carsley, Charles Keown‐Stoneman, Karen Tu, Lonnie Zwaigenbaum, Catherine S. Birken   +6 more
wiley   +1 more source

Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population [PDF]

, 2018
Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear.
A Forsberg, A Kottgen, Annika Lindblom, B Reva, B Zhang, C Genomes Project, C Laflamme, C Palles, C Yu, CA Boger, CE Bronner, CP Horgan, D Reinbach, DG Mollevi, F Chatzinasiou, F Haxho, FA Haggar, FS Leach, GB Collin, H Fischer, H Fischer, H Wang, HA Shihab, Hovsep Mahdessian, I Stefanaki, IA Adzhubei, J Groden, J Kong, J McClellan, Jenny Ringdahl, JI Goldstein, JM Schwarz, K Antonopoulou, K Chellappa, K Guda, K Lagerstedt Robinson, L Valle, M Lek, Malcolm Dunlop, Maria Timofeeva, MN Timofeeva, MX Qian, N Segui, N Whiffin, P Lichtenstein, Patrick Bryant, PC Ng, PK Magnusson, RD Weren, S Chun, S Jiao, S Purcell, S Supiot, SJ Winawer, Susan M. Farrington, T Bhuin, T Hearn, T Tanaka, T Uemura, TK Bera, U Peters, V Vymetalkova, Wen Liu, WL Charng, XF Liu, Xiang Jiao, Yong-Gang Yao   +66 more
core   +2 more sources