Results 71 to 80 of about 17,999 (210)

Ciliary Defects in Inherited Retinal Diseases

open access: yesAdvanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

Characterization of polydactyly-derived chondrocyte sheets versus adult chondrocyte sheets for articular cartilage repair

open access: yesInflammation and Regeneration, 2017
BackgroundWe previously conducted a first-in-human clinical study of articular cartilage repair using autologous chondrocyte sheets and confirmed the regeneration of hyaline-like cartilage in all eight patients.
M. Maehara   +6 more
semanticscholar   +1 more source

A dominant missense variant within LMBR1 related to equine polydactyly

open access: yesCommunications Biology
Polydactyly was recorded before 100 BCE and attracted widespread interest because of its relationship to limb health and ancestral traits in horses. However, the underlying reasons for the development of polydactyly remain unclear.
Yue Luan   +7 more
doaj   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #75: Evaluation and management of non‐immune hydrops fetalis

open access: yesPregnancy, Volume 2, Issue 2, March 2026.
Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM)   +3 more
wiley   +1 more source

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

open access: yesCilia, 2017
BackgroundSkeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal ...
Ivan Duran   +12 more
semanticscholar   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

open access: yesAndrology, Volume 14, Issue 3, Page 880-889, March 2026.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu   +7 more
wiley   +1 more source

The sensory penis: A comprehensive immunohistological and ontogenetic exploration of human penile innervation

open access: yesAndrology, Volume 14, Issue 3, Page 661-701, March 2026.
Abstract Background Penile sexual sensation relies on intricate neural structures that remain incompletely characterized. Immunohistological insights into their development and organization can enhance understanding of penile neuroanatomy and function, while optimizing surgical outcomes.
Alfonso Cepeda‐Emiliani   +6 more
wiley   +1 more source

Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly

open access: yesJournal of Orthopaedic Surgery and Research
Background Polydactyly is a prevalent congenital anomaly with an incidence of 2.14 per 1000 live births in China. GLI family zinc finger 3 (GLI3) is a classical causative gene of polydactyly, and serves as a pivotal transcription factor in the hedgehog ...
Run-Yan Wang   +6 more
doaj   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv   +12 more
wiley   +1 more source

Thumb Polydactyly: Clinical Outcome after Reconstruction

open access: yesJournal of Orthopaedic Surgery, 2006
Purpose. To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification. Methods.
CH Yen, WL Chan, HB Leung, KH Mak
doaj   +1 more source

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