Results 101 to 110 of about 417,668 (180)

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2279-2288, October 2026.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases

, 2019
Optical coherence tomography angiography (OCTA) is a novel, noninvasive imaging modality that allows depth-resolved imaging of the microvasculature in the retina and the choroid.
Ong, Singh, Patel
core   +1 more source

DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1

, 2020
PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously.
Schatz, Patrik, Abdelkader, Ehab, Abu Safieh, Leen, Sawsan R. Nowilaty, Patrik Schatz, Leen Abu Safieh, Alsulaiman, Hamad M.,, Nowilaty, Sawsan R., Schatz, Patrik,, Hamad M. Alsulaiman, Ehab Abdelkader, Nowilaty, Sawsan R.,, Alsulaiman, Hamad M., Lund University., Abdelkader, Ehab,, Abu Safieh, Leen,   +15 more
core   +1 more source

Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters

Stem Cell Research
Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. Caused by mutations in
Helena Isla-Magrané, Maddalen Zufiaurre-Seijo, Miguel Ángel Zapata, Josep García-Arumí, Anna Duarri   +4 more
doaj   +1 more source

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy. [PDF]

Eye (Lond), 2023
Jalil A, Ivanova T, Moussa G, Parry NRA, Black GCM.   +4 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy. [PDF]

Front Genet, 2022
Liu X, Jia R, Meng X, Wang L, Yang L.
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A spontaneous nonhuman primate model of inherited retinal degeneration

JCI Insight
Inherited retinal degenerations (IRDs) are important causes of progressive, irreversible blindness. Hereditary macular diseases, in particular, are significant in their effect on the specialized, central cone photoreceptor–rich macula responsible for ...
Wei Yi, Mingming Xu, Ying Xue, Yingxue Cao, Ziqi Yang, Lingli Zhou, Yang Zhou, Le Shi, Xiaomei Mai, Zehui Sun, Wenjie Qing, Yuying Li, Aolun Qing, Kaiwen Zhang, Lechun Ou, Shoudeng Chen, Elia J. Duh, Xialin Liu   +17 more
doaj   +1 more source

Purinergic Receptors P2X7 and P2X4 as Markers of Disease Progression in the rd10 Mouse Model of Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci, 2022
Martínez-Gil N, Kutsyr O, Noailles A, Fernández-Sánchez L, Vidal L, Sánchez-Sáez X, Sánchez-Castillo C, Lax P, Cuenca N, García AG, Maneu V.   +10 more
europepmc   +1 more source