Results 161 to 170 of about 572,136 (283)

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Ambient Air Pollution, Polycyclic Aromatic Hydrocarbons, and Pubertal Development: A Critical Review of Emerging Evidence. [PDF]

Curr Environ Health Rep
Peterson AK.
europepmc   +1 more source

Understanding the Experiences of Young People Living With Haemophilia—A UK Social Media Study

Haemophilia, EarlyView.
ABSTRACT Introduction Haemophilia is a rare congenital bleeding disorder that presents significant physical and psychological challenges, especially for young people, with limited real‐world evidence about their experiences in the UK. Aim This study sought to understand the perspectives and challenges of young people living with haemophilia in the UK ...
Emma Gayton, Ranjit Nagra, Bekki Millward, Erin Plummer, Laura Galimam, Alex Dowsett, Nikki Curry   +6 more
wiley   +1 more source

Research Review: A scoping review exploring the needs, barriers, and facilitators to the collection of biological data in adolescence for mental health research

Journal of Child Psychology and Psychiatry, EarlyView.
Background There is increasing recognition of the challenge of representativeness in data, including economic, social, and ethnic diversity, in biological mental health research. This is a particular challenge in adolescence, where brain and body development are impacted by the environment.
Courtney Worrell, Camila Ribeiro Perez, Sorcha Alford, Rebecca Pollard, Luca Sforzini, Cole Sommeling, James Hotham, Amanda Rodney, Zara Sadiq, Hana Shah, Tyler Weetman, Gillian Brooks, Matthew R. Broome, Niyah Campbell, Nzinga Gardner, Seeromanie Harding, Anna Lavis, Rosemary R.C. McEachan, Valeria Mondelli, Craig Morgan, Kierra Morris, Chiara Nosarti, Talya Porat, David Ryan, Katy Shire, Anthony Woods, Carmine M. Pariante, CELEBRATE Youth Expert Working Group, Paola Dazzan, Rachel Upthegrove   +29 more
wiley   +1 more source

Puberty timing and cognitive functioning: insights from the Adolescent Brain Cognitive Development (ABCD) study and Mendelian randomization

Journal of Child Psychology and Psychiatry, EarlyView.
Background Early puberty timing is linked to altered neurodevelopment and adverse mental health outcomes, yet its relationship with cognitive functioning remains unclear. We examined the effects of puberty timing across multiple cognitive domains.
Lars Dinkelbach, Bianca Serio, Sofie Valk, Franka Edith Weisner, Luise Margaretha Bläschke, Triinu Peters, Anke Hinney, Börge Schmidt, Raphael Hirtz   +8 more
wiley   +1 more source

Growth and puberty in African children with sickle cell anemia treated with hydroxyurea. [PDF]

Blood Adv
Backeljauw P, Tomlinson G, Smart LR, Tshilolo L, Williams TN, Santos B, Olupot-Olupot P, Stuber S, Lane A, Latham T, Ware RE.   +10 more
europepmc   +1 more source

European S2k guidelines for hidradenitis suppurativa/acne inversa Part 1. Epidemiology, diagnosis and clinical assessment

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Updated S2k hidradenitis suppurativa (HS) guidelines provide expert consensus on diagnosis, assessment and comorbidities. Expanded substantially since the 2015 version, they reflect rapid growth in HS literature and aim to improve generalist‐level patient care through evidence‐informed, consensus‐based guidance.
G. B. E. Jemec, B. Villumsen, K. R. van Straalen, H. H. van der Zee, S. Valiukevičienė, T. Tzellos, J. C. Szepietowski, A. Szegedi, D. M. L. Saunte, M. Romanelli, H. Raynal, F. Prignano, E. P. Prens, M. Podda, A. Nassif, A. Molina‐Leyva, Ł. Matusiak, A. V. Marzano, B. M. McGrath, A. I. Liakou, B. Kirby, L. Kemény, E. Just, D. Ioannidis, J. R. Ingram, R. E. Hunger, B. Horváth, P. Guillem, Ø. Grimstad, E. J. Giamarellos‐Bourboulis, M. Dolenc‐Voljč, V. Del Marmol, Z. Bukvić Mokos, V. Bettoli, F. Benhadou, F. G. Bechara, C. C. Zouboulis   +36 more
wiley   +1 more source

Clinical and immunological features of a patient exhibiting delayed puberty, microcephaly, scoliosis and epilepsy caused by a novel mutation in <i>IGSF10</i>. [PDF]

Front Cell Dev Biol
Cao GH, Liu L, Liu Z, Zhu L, Ta N, Liu YH, Zhang AQ, Fan LL.   +7 more
europepmc   +1 more source

Testosterone therapy in boys with constitutional delay of growth and puberty: a PubMed-based systematic review and exploratory meta-analysis. [PDF]

Clin Exp Pediatr
Soliman AT, Alyafei F, Alaaraj N, Hamed N, Ahmed S, Siddiq KA, Qusad M, AlKhalaf M.   +7 more
europepmc   +1 more source

Pathogenesis of hidradenitis suppurativa: From susceptibility to chronicity

Journal of the European Academy of Dermatology and Venereology, EarlyView.
This review describes hidradenitis suppurativa as a heterogeneous disorder in which genetic susceptibility, epithelial dysfunction, environmental exposures, immune activation and microbial ecology converge differently across patients and disease stages.
Kelsey R. van Straalen, Nisha S. Chandran, Jean M. Fletcher, Evangelos J. Giamarellos‐Bourboulis, Elia Rosi, Gregor B. E. Jemec   +5 more
wiley   +1 more source