Results 81 to 90 of about 8,820 (262)

EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]

, 2018
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
core   +1 more source

Exploring the Possible Allosteric Binding Sites of Plasmodium falciparum Hypoxanthine‐Guanine‐Xanthine Phosphoribosyl Transferase (PfHGXPRT) with Iso‐Mukaadial Acetate and Ursolic Acid Acetate Using Computational Approaches

ChemistrySelect, Volume 10, Issue 10, March 11, 2025.
This study focuses on identifying potential allosteric pockets on PfHGXPRT that are structurally distinct from those on HsHGPRT. An in silico binding pocket workflow was employed integrating tools such as FTMap, FTSite, Protein Allosteric and Regulatory Sites (PARS), and the Protein Allosteric Sites Server (PaSSer). Identified pockets were evaluated by
Nicolaas Salomane, Ndumiso Nhlakanipho Mhlongo, Fortunate Mokoena, Thendo Mafuna, Mthokozisi Simelane   +4 more
wiley   +1 more source

High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability

Journal of Intellectual Disability Research, Volume 69, Issue 2, Page 137-152, February 2025.
Abstract Background Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals
B. K. Bulduk, J. Tortajada, L. Torres‐Egurrola, A. Valiente‐Pallejà, R. Martínez‐Leal, E. Vilella, H. Torrell, G. Muntané, L. Martorell   +8 more
wiley   +1 more source

The needs of family members of people with severe or profound intellectual disabilities when collaborating with healthcare professionals: a systematic review

Journal of Intellectual Disability Research, Volume 69, Issue 1, Page 1-29, January 2025.
Abstract Background Collaboration with healthcare professionals is crucial in arranging necessary lifelong support for people with intellectual disabilities. However, family members often face challenges when collaborating with healthcare professionals.
K. van Beurden, F. R. Vereijken, N. Frielink, P. J. C. M. Embregts   +3 more
wiley   +1 more source

Oral self-mutilation in Lesch-Nyhan Syndrome. Case Report.

Revista chilena de pediatría, 2018
INTRODUCTION Lesch-Nyhan syndrome (LNS) is an inherited recessive X-related disorder caused by the deficiency of the enzyme hypoxanthin-guanine phosphorribosyl transferase (HPRT).
Andrés Campolo González, A. Vargas Díaz, Daniel Fontboté Riesco, M. Hernández Chávez   +3 more
semanticscholar   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies

Movement Disorders, Volume 39, Issue 11, Page 2110-2116, November 2024.
Abstract Background Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective The objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk ...
Björn‐Hergen Laabs, Katja Lohmann, Eva‐Juliane Vollstedt, Tobias Reinberger, Lisa‐Marie Nuxoll, Gamze Kilic‐Berkmen, Joel S. Perlmutter, Sebastian Loens, Carlos Cruchaga, Andre Franke, Valerija Dobricic, Frauke Hinrichs, Anne Grözinger, Eckart Altenmüller, Steven Bellows, Sylvia Boesch, Susan B. Bressman, Kevin R. Duque, Alberto J. Espay, Andreas Ferbert, Jeanne S. Feuerstein, Samuel Frank, Thomas Gasser, Bernhard Haslinger, Robert Jech, Frank Kaiser, Christoph Kamm, Katja Kollewe, Andrea A. Kühn, Mark S. LeDoux, Ebba Lohmann, Abhimanyu Mahajan, Alexander Münchau, Trisha Multhaupt‐Buell, Alexander Pantelyat, Sarah E. Pirio Richardson, Deborah Raymond, Stephen G. Reich, Rachel Saunders Pullman, Barbara Schormair, Nutan Sharma, Azadeh Hamzehei Sichani, Kristina Simonyan, Jens Volkmann, Aparna Wagle Shukla, Juliane Winkelmann, Laura J. Wright, Michael Zech, Kirsten E. Zeuner, Simone Zittel, Meike Kasten, Yan V. Sun, Tobias Bäumer, Norbert Brüggemann, Laurie J. Ozelius, Hyder A. Jinnah, Christine Klein, Inke R. König   +57 more
wiley   +1 more source

Strabismic syndromes and syndromic strabismus - a brief review [PDF]

arXiv, 2015
Strabismus can be found in association with congenital heart diseases, for examples, in velocardiofacial (DiGeorge) syndrome, Down syndrome, mild dysmorphic features, in CHARGE association, Turner syndrome, Ullrich-Turner syndrome, cardiofaciocutaneous syndrome.1-4 Some types of strabismus is heritable (e.g.
arxiv  

The creation of transgenic animal “models” for human genetic disease [PDF]

, 1992
Transgenic animals will be created to study human genetic disease as soon as the technological capability exists to do so. Extant laws permit such animals to be created. The mindset of the research community makes it inevitable.
Rollin, Bernard E.
core  

LESCH-NYHAN SYNDROME: A CASE REPORT [PDF]

THE JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY, 2011
Lesch-Nyhan syndrome is a disease caused by metabolic disorder of purine. General muscle stiffness and hyposomia are shown from infancy and symptoms can include involuntary or irregular movements of arms and legs, mental retardation, and compulsive self-mutilating behaviors.
Seon-Mi Kim, Myoung-Gook Kim, Kyu-Ho Yang, Nam-Ki Choi   +3 more
openaire   +2 more sources