Results 71 to 80 of about 11,428 (200)

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Bardet Biedl Syndrome

Journal of Nepal Paediatric Society, 2013
This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features.
Bhusan Chaki, Prabhat Kumar, Sananda Pati, Sangita De, Taraknath Ghosh   +4 more
openaire   +3 more sources

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons

Cell Biochemistry and Function, Volume 44, Issue 4, April 2026.
ABSTRACT The melanocortin‐3 receptor (MC3R) and the melanocortin‐4 receptor (MC4R), both expressed in hypothalamic nuclei, are key downstream effectors of leptin signaling and play important roles in energy homeostasis. While pathogenic variants in the MC4R gene represent the most common cause of monogenic obesity, the clinical significance of MC3R ...
Niels Vos, Alessandro Moro, Wim Van Hul, Lotte Kleinendorst, Ralph J. Florijn, Susanne E. la Fleur, Matthijs Verhage, Mieke M. van Haelst, Ruud F. Toonen   +8 more
wiley   +1 more source

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome

Frontiers in Genetics
IntroductionBardet–Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance.
M. Orlova, P. Gundorova, V. Kadnikova, A. Polyakov   +3 more
doaj   +1 more source

Bardet–Biedl Syndrome in an Ethiopian

International Medical Case Reports Journal, 2021
Asamere Tsegaw,1 Tiliksew Teshome2 1Department of Ophthalmology, School of Medicine, University of Gondar, Gondar, Ethiopia; 2Department of Ophthalmology, Faculty of Medicine, Addis Ababa University, Addis Ababa, EthiopiaCorrespondence: Asamere ...
Tsegaw A, Teshome T
doaj  

Bangladeshi Case Series of Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2023
A rare multisystemic, ciliopathic autosomal recessive disorder called Bardet–Biedl syndrome (BBS) primarily affects children of consanguineous marriages. Both men and women are affected by it.
Fariah Osman, Md Iftekher Iqbal, M. Nazrul Islam, Syed Jahangir Kabir   +3 more
doaj   +1 more source

The promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MEr41 primate-specific endogenous retrovirus: An evolutionary connection between immunity and cognition [PDF]

, 2019
The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fgene.2019.00321/full#supplementary-materialSocial behavior and neuronal connectivity in rodents have been shown to be shaped by the ...
Benítez Burraco, Antonio, Nataf, Serge, Uriagereka, Juan   +2 more
core   +6 more sources

Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract Rare diseases are a group of chronic conditions with low individual prevalence. These conditions predominantly affect children and severely impact their lives. Oftentimes, children with rare diseases receive care from family caregivers, who experience several challenges in their roles and regularly struggle to cope with caregiving demands ...
Jodie van Niekerk, Marianne Gush, Shahida Moosa, Chrisma Pretorius   +3 more
wiley   +1 more source

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy [PDF]

, 2019
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is ...
Adams, A. M., Cabrera Serrano, Macarena, Carvajal, A., Dyke, J.M, Fernández García, M. A., Fletcher, S., Junckerstorff, R., Laing, N. G., Lamont, P.J., Mavillard Saborido, Fabiola, Nieto González, José Luis, Paradas, Carmen, Pelayo Negro, A. L., Ravenscroft, G., Rivas, Eloy, Servián Morilla, Emilia   +15 more
core   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source