Results 41 to 50 of about 1,349,658 (342)

Machine-learning-based investigation on classifying binary and multiclass behavior outcomes of children with PIMD/SMID [PDF]

arXiv, 2021
Recently, the importance of weather parameters and location information to better understand the context of the communication of children with profound intellectual and multiple disabilities (PIMD) or severe motor and intellectual disorders (SMID) has been proposed.
arxiv  

Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023
Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa María, Víctor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler   +17 more
wiley   +1 more source

Awareness of the Need for Change: A Constructivist Grounded Theory of Medical Students’ Understanding of Human Rights in Mental Health [PDF]

Health and Human Rights, 2023
Traditionally, teaching in psychiatry has had a passing focus on human rights. Against this backdrop, the aim of this study was to construct a theory of the learning value of a service user-led human rights-focused teaching program for final-year medical
Peter Macsorley, Sarah Gordon, Tracey Gardiner, Giles Newton-Howes   +3 more
doaj  

Hidden walls: STEM course barriers identified by students with disabilities [PDF]

, 2019
Historically, non-disabled individuals have viewed disability as a personal deficit requiring change to the disabled individual. However, models have emerged from disability activists and disabled intellectuals that emphasize the role of disabling social structures in preventing or hindering equal access across the ability continuum. We used the social
arxiv   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin   +9 more
wiley   +1 more source

The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023
Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, Giovanni Michelini, Francesca Dall'Ara, Claudia Rigamonti, Federico Monti, Paola Giovanna Vizziello, Angelo Selicorni, Donatella Milani, Simona Scaini, Antonella Costantino   +11 more
wiley   +1 more source

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Brain : a journal of neurology, 2019
Ion channel mutations can cause distinct neuropsychiatric diseases. We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or ...
Yuanyuan Liu, J. Schubert, L. Sonnenberg, K. Helbig, C. Hoei-Hansen, M. Koko, Maert Rannap, S. Lauxmann, Mahbubul Huq, Michael C. Schneider, K. Johannesen, G. Kurlemann, E. Gardella, F. Becker, Y. Weber, J. Benda, R. Møller, H. Lerche   +17 more
semanticscholar   +1 more source

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

, 2023
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani   +11 more
wiley   +1 more source