Results 61 to 70 of about 11,428 (200)

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

open access: yesJournal of Clinical Periodontology, EarlyView.
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   +30 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

open access: yesPediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith   +2 more
wiley   +1 more source

Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. [PDF]

open access: yes, 2012
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and ...
Beales, PL   +6 more
core   +4 more sources

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

open access: yesAmerican 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   +1 more
wiley   +1 more source

A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2018
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency.
Luz Yaqueline Ladino   +4 more
doaj   +1 more source

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]

open access: yes, 2017
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed   +24 more
core   +1 more source

Cilia in Nervous System Development, Function, and Disease

open access: yesMedComm – 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

SEMASEARCH Study Design: Real‐World Evaluation of Semaglutide 2.4 mg in Adults With Severe Obesity Underrepresented in Clinical Trials

open access: yesDiabetes, Obesity and Metabolism, Volume 28, Issue 6, Page 4602-4609, June 2026.
ABSTRACT Background Although semaglutide 2.4 mg has demonstrated significant weight loss efficacy in clinical trials, real‐world data, particularly with regard to clinically complex and underrepresented populations, remain limited. Objectives The study aims to assess the real‐world effectiveness and patient‐reported outcomes associated with the use of ...
Pierre Bel Lassen   +20 more
wiley   +1 more source

A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

open access: yesClinical Ophthalmology, 2021
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA   +3 more
doaj  

Group descent algorithms for nonconvex penalized linear and logistic regression models with grouped predictors

open access: yes, 2013
Penalized regression is an attractive framework for variable selection problems. Often, variables possess a grouping structure, and the relevant selection problem is that of selecting groups, not individual variables. The group lasso has been proposed as
A. Chiang   +28 more
core   +1 more source

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