Results 61 to 70 of about 7,409 (168)

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Bardet Biedl Syndrome: A Case Report

, 1970
Key words: Bardet Biedl Syndrome; cromosome; ciliopathicDOI: 10.3329/jcmcta.v21i2.7738 Journal of Chittagong Medical College Teachers' Association 2010: 21(2):44-46  
Nasiruddin Mahmud, MA Hassan Chowdhury, Kamrun Nahar, Pranab Kumar Chowdhury   +3 more
core   +1 more source

Manifestations of Bardet-Biedl syndrome

Philippine Journal of Ophthalmology, 2004
Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital. Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on
Kristine T. Lo, MD, Juancho Remulla, MD, Alvina Pauline Santiago, MD   +2 more
doaj  

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

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +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  

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases

Pediatric Investigation, Volume 10, Issue 3, Page 258-268, June 2026.
• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes, Paula Esteller‐Cucala, Marina Alvarez‐Estape, Ivan Cano, Rosa Pino, Carla González‐Grado, Andrea Aldemira‐Liz, Javier Logroño, Carlos Mascías, Juanjo do‐Olmo, Julián Isla, Yolima Cossio, Francesc Garcia‐Cuyas   +12 more
wiley   +1 more source

Legg‐Calvé‐Perthes disease in a patient with Bardet‐Biedl syndrome: A case report of a novel MKKS/BBS6 mutation

Clinical Case Reports, 2020
This article reports a girl with Bardet‐Biedl syndrome (BBS) having a novel causative mutation who developed Legg‐Calvé‐Perthes disease (LCPD). There exists a possibility that the prognosis of LCPD had been adversely affected by the concomitant BBS.
Kenichi Mishima, Atsushi Fujita, Seiji Mizuno, Masaki Matsushita, Tadashi Nagata, Yasunari Kamiya, Noriko Miyake, Naomichi Matsumoto, Shiro Imagama, Hiroshi Kitoh   +9 more
doaj   +1 more source