Results 171 to 180 of about 9,885 (240)

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

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Rare 19q13.42 duplication encompassing <i>PRKCG</i> associated with neurodevelopmental abnormalities. [PDF]

Transl Pediatr
Su J, Yang L, Li H, Dong P, Wang S, Cheng G, Wu B, Wang H, Lu Y, Zhou W.   +9 more
europepmc   +1 more source

Amplifying Marginalised Voices: A Rapid Evidence Review of Participatory Methods Engaging Justice‐Involved Youth

Children &Society, EarlyView.
ABSTRACT This research explores participative approaches for amplifying the voices of justice‐involved youth, a marginalised group in criminological research. Using the SPIDER framework, this rapid evidence review examines engagement methods, such as photovoice and lyric writing.
Kelly Razey, Colm Walsh
wiley   +1 more source

Pathogenic and genetic landscape of Still's disease across ages, with new insights into age-related IL-18 patterns. [PDF]

Arthritis Res Ther
Rogani G, Kessler H, Mehta B, Baker E, Leavis H, Vastert S, Schulert G.   +6 more
europepmc   +1 more source

Adult Involvement in the Exercise of Agency in Child Protection: Children's Desires and Perceptions

Children &Society, EarlyView.
ABSTRACT The agency of children in child protection services (CPS) facing rules and restrictions due to their protection status is not well known. Agency is defined as conscious and purposeful thoughts and actions by an agent that have an effect in social relationships and institutions. To our knowledge, the literature on children's agency in CPS gives
Amaryllis Mirlycourtois, Sylvie Drapeau, Julie Marcotte   +2 more
wiley   +1 more source

Advancing conservation breeding programs for marine invertebrates

Conservation Biology, EarlyView.
Abstract In the face of ecosystem change and biodiversity loss caused by climate change and other stressors, conservation breeding, or captive breeding, with the aim of reintroduction for wild population recovery, is an emerging tool for preventing species’ extinction and rehabilitating ecosystems.
Elora H. López‐Nandam, Bart Shepherd, Kylie Lev, Rebecca Albright   +3 more
wiley   +1 more source

Correction: Developing consensus outcome measures in juvenile systemic sclerosis: a global survey of pediatric rheumatologists and literature review. [PDF]

Pediatr Rheumatol Online J
Vasquez-Canizares N, Pain CE, Zulian F, Yildiz AA, Appenzeller S, Marrani E, Giudice ED, Petaccia A, Tirelli F, Simonini G, Çakan M, Cattalini M, Julio PR, Torok K, Khubchandani R, Kasapcopur O, Robinson L, Al-Abadi E, Gunalp A, Lu M, Lythgoe H, Robinson A, Sozeri B, Shenoi S, Willis E, Clarke K, Zheng R, Castaldi B, Leone V, Maniscalco V, Stead L, Ambartsumyan L, Rosser F, Duong P, Minuti A, Li SC, Twilt M.   +36 more
europepmc   +1 more source

Sex Differences in PROMIS Pediatric Depressive Symptoms, Anxiety, and Psychological Stress Among Children and Adolescents Living With Pediatric Rheumatic Diseases. [PDF]

J Rheumatol
Randell RL, Ardalan K, Carson NB, Li Z, Dedeoglu F, Weitzman ER, von Scheven E, Vehe RK, Gaultney AC, Kimura Y, Schanberg LE, Reeve BB, CARRA Registry Investigators.   +12 more
europepmc   +1 more source

Informing elephant management through demographic snapshots

Conservation Science and Practice, EarlyView.
Understanding demography is vital for managing species successfully; however, for elephants, traditional surveys are both costly and labor‐intensive. This study presents a cost‐effective method for estimating age structures of savannah elephants in southern Africa, revealing how water provisioning, density dependence, and fertility control influence ...
Ryan M. Huang, Stuart L. Pimm, Cornelius J. Louw, Robert A. R. Guldemond   +3 more
wiley   +1 more source