Results 51 to 60 of about 87,553 (201)

Derivation and characterization of the induced pluripotent stem cell line CUIMCi004-A from a patient with a novel frameshift variant in exon 18a of OCRL

Stem Cell Research, 2022
OCRL encodes for an inositol polyphosphate 5-phosphatase, located in the trans-Golgi network, endosomes, endocytic clathrin-coated pits, primary cilia. Mutations in OCRL causes Lowe syndrome (LS), a rare and complex disorder characterized by congenital ...
Grazia Iannello, Achchhe Patel, Dario Sirabella, Barbara Corneo, Vidhu V. Thaker   +4 more
doaj   +1 more source

Acquired epidermodysplasia verruciformis due to multiple and unusual HPV infection among vertically-infected, HIV-positive adolescents in Zimbabwe. [PDF]

, 2012
BACKGROUND: We have previously described the presentation of epidermodysplasia verruciformis (EV)-like eruptions in almost a quarter of hospitalized adolescents with vertically-acquired human immunodeficiency virus (HIV) infection in Harare, Zimbabwe, a ...
Bunker, CB, Corbett, EL, de Koning, M, Ferrand, RA, Katsidzira, L, Lowe, SM, Meys, R, Miller, RF, Munyati, S, Nathoo, K, Ndhlovu, CE, Quint, W, Salisbury, JR, Sterling, JC   +13 more
core   +3 more sources

Childhood cognitive control as a predictor of long‐term clinical and functional outcomes in Tourette syndrome

Journal of Child Psychology and Psychiatry, EarlyView.
Background Tourette syndrome (TS) is a childhood‐onset neuropsychiatric condition characterized by motor and vocal tics. Many individuals with TS continue to experience tics and functional difficulties into adulthood, yet the factors influencing these long‐term trajectories remain poorly understood.
Kathryn E. Barber, Emily J. Ricketts, Douglas W. Woods, John Piacentini, Flint M. Espil, Matthew Specht, Shannon M. Bennett, John T. Walkup, Susanna Chang, Alan L. Peterson, Lawrence Scahill, Sabine Wilhelm, Joseph F. McGuire   +12 more
wiley   +1 more source

Congenital Myopathy in Lowe Syndrome

Pediatric Neurology Briefs, 1990
Congeni tal fiber type disproportion myopathy is described in two brothers with oculo-cerebro-renal syndrome of Lowe from the Department of Pediatrics, Tsuchiura Kyoudou Hospital; Ibaraki; Tsukuba University; Tokyo Medical and Dental University; and ...
J Gordon Millichap
doaj   +1 more source

Treatment of Girls and Boys with McCune-Albright Syndrome with Precocious Puberty - Update 2017 [PDF]

, 2017
The most common endocrinopathy associated with McCune-Albright Syndrome (MAS) is peripheral precocious puberty (PP) which occurs far more often in girls than in boys.
Eugster, Erica A., Neyman, Anna
core   +1 more source

Individual variability in activity patterns in Atlantic halibut (Hippoglossus hippoglossus) revealed using pop‐up satellite tags

Journal of Fish Biology, EarlyView.
Abstract Understanding fish behaviour and activity patterns is essential for interpreting their ecology and the processes that shape population dynamics, yet such information remains limited for wild fishes because observing individuals in situ is challenging.
Marie‐Pier Boulanger, Paul Gatti, Arnault Le Bris, Hugues P. Benoît, Dominique Robert   +4 more
wiley   +1 more source

A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome, also known as Lowe syndrome, is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Ali Kanık, Belde Kasap-Demir, Rüya Ateşli, Kayı Eliaçık, Onder Yavaşcan, Mehmet Helvacı   +5 more
doaj  

SODAS: Surveillance of Drugs of Abuse Study [PDF]

, 2017
Objective: Novel Psychoactive Substance (NPS) as a form of recreational drug use has become increasingly popular. There is a paucity of information with regards the prevalence and clinical sequalae of these drugs.
Bloeck, Felix, Ireland, Alastair, Lowe, David J., Stevenson, Richard, Torrance, Hazel   +4 more
core   +1 more source

The Development and Validation of Models of Risk for Behaviours That Challenge in Children With Developmental Disabilities: A Novel Machine Learning Approach

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Children with developmental disabilities show a high prevalence of behaviours that challenge (BtC). Thus, harnessing known risk markers to target early intervention to children at the greatest risk of BtC is essential. In this study, machine learning techniques were used to develop prediction models of risk (no, low and high ...
Laura Groves, Guy Davies, Chris Oliver, Debbie Allen, Charlie Bamford, Louise Bell, Chloe Brown, Vivian Cooper, Louise Daniel, Jo Garstang, Chris Jones, Joseph P. McCleery, Ashley Liew, John Rose, Doug Simkiss, Catherine Steenfeldt‐Kristensen, Alice Welham, Caroline Richards   +17 more
wiley   +1 more source

The prevalence and incidence of mental ill-health in adults with autism and intellectual disabilities [PDF]

, 2008
The prevalence, and incidence, of mental ill-health in adults with intellectual disabilities and autism were compared with the whole population with intellectual disabilities, and with controls, matched individually for age, gender, ability-level, and ...
A. V. Brereton, Alison Jackson, B. Holden, C. Lord, C. Morgan, C. W. McGrother, Craig A. Melville, D. G. Allen, D. Mantry, Dipali Mantry, E. A. Bradley, E. A. Bradley, E. Billstedt, E. Smiley, E. Tsakanikos, E. Tsakanikos, Elita Smiley, F. Tyrer, G. Baird, G. Dawson, H. Leonard, H. Schrojenstein Lantman-de Valk van, H. W. M. Kwok, J. Bertrand, J. Hill, J. K. Kern, J. L. Matson, J. L. Matson, J. Robertson, Janet Finlayson, Jill Morrison, K. McClintock, L. Lecavalier, L. Wing, Linda Allan, M Yeargin-Allsopp, M. E. Stewart, M. G. Aman, M. Ghaziuddin, M. Ghaziuddin, M. Hotopf, M. M. Konstantareas, M. Wullink, N. Holmes, National Initiative: Autism Screening, Assessment, P. A. Filipek, P. Sturmey, P. W. Davidson, R. A. Collacott, R. Didden, R. Didden, R. Farmer, R. M. Reese, S. -A. Cooper, S. -A. Cooper, S. A. Borthwick-Duffy, S. A. Cooper, S. A. Cooper, S. Bhaumik, S. Chakrabarti, S. Chakrabarti, S. Deb, S. Moss, Sally-Ann Cooper, Scottish Intercollegiate Guideline Network, T. D. Cook, World Health Organisation, World Health Organisation   +67 more
core   +1 more source