Results 61 to 70 of about 20,731 (178)

Epidermoid cyst as differential diagnosis for spherical keratoma: What do we know?

Equine Veterinary Education, EarlyView.
Summary This article briefly presents the case of a space‐occupying coronary band mass that raised the question of how one can differentiate between two uncommonly seen but now commonly paired differential diagnoses and prompted a review of the relevant literature.
R. Goodman‐Davis, D. C. Debald, R. Haralambus   +2 more
wiley   +1 more source

Individual variability in activity patterns in Atlantic halibut (Hippoglossus hippoglossus) revealed using pop‐up satellite tags

Journal of Fish Biology, EarlyView.
Abstract Understanding fish behaviour and activity patterns is essential for interpreting their ecology and the processes that shape population dynamics, yet such information remains limited for wild fishes because observing individuals in situ is challenging.
Marie‐Pier Boulanger, Paul Gatti, Arnault Le Bris, Hugues P. Benoît, Dominique Robert   +4 more
wiley   +1 more source

Fraser syndrome and cryptophthalmos; a case report

, 2007
Objective: Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies.
poor, A Mohamadi, Khalesi, N, Salehi, F
core   +1 more source

Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
Biallelic loss‐of‐function AFG3L2 variants define a severe DEE phenotype with microcephaly, spasticity, and progressive cerebral atrophy. Multi‐omics and patient fibroblasts reveal aberrant splicing, reduced AFG3L2, defective OPA1 processing, mtDNA depletion, fragmented mitochondria, and impaired respiration, implicating m‐AAA protease failure in early
Zou Pan, Li Yang, Haiyan Tang, Chen Chen, Qian Yang, Tenghui Wu, Fang He, Zhanwei Zhang, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Robinow syndrome DVL1 variants disrupt morphogenesis and appendage formation in a Drosophila disease model

Developmental Dynamics, Volume 255, Issue 7, Page 646-670, July 2026.
Abstract Background Robinow syndrome is a rare developmental syndrome caused by variants in genes in Wnt signaling pathways. We previously showed that expression of patient variants in Dishevelled 1 (DVL1) in Drosophila and chicken models disrupts the balance of canonical and non‐canonical Wnt signaling.
Gamze Akarsu, Katja R. MacCharles, Kenneth Kin Lam Wong, Joy M. Richman, Esther M. Verheyen   +4 more
wiley   +1 more source

The molecular genetics of Fraser syndrome [PDF]

, 2003
Fraser syndrome is a rare congenital autosomal recessive syndrome. The major features are cryptophthalmos, syndactyly, laryngeal stenosis and renal agenesis.
McGregor, Lesley Karen
core  

Fraser's syndrome.

Journal of postgraduate medicine, 1993
A full term female baby at birth showed the features of Fraser's syndrome viz. upper lid coloboma, cryptophthalmos, abnormal groove over temporal region, dysmorphic facies, hypospadias and bilateral syndactyly. On ultrasound examination of the abdomen and left orbit, maldeveloped kidney and eyeball were found. Other siblings were not affected.
A P, Agashe, S D, Adrianwala, S S, Bhatti, C P, Contractor   +3 more
openaire   +1 more source

Moving beyond environmental filtering hypotheses: Deciphering the drivers of congeneric plant introductions in an oceanic archipelago

Ecography, Volume 2026, Issue 7, July 2026.
Understanding why only some species succeed in naturalizing and invading ecosystems has intrigued scientists since Darwin's time. The pre‐adaptation hypothesis posits that introduced species closely related to natives, therefore ecologically similar, are more likely to establish than others.
Louis S. Jay‐García, Yurena Arjona, Flavien Collart, Alain Vanderpoorten, Olivier Broennimann, Antoine Guisan, José María Fernández‐Palacios, Jairo Patiño   +7 more
wiley   +1 more source

Fraser syndrome without cryptophthalmos: Two cases

, 2020
Fraser syndrome (MIM#219000) is an autosomal recessive disorder, characterized by the association of cryptophthtalmos, syndactyly of the four extremities, urinary tract abnormalities and laryngo-tracheal anomalies.
Manouvrier-Hanu, S, Lyonnet, S, Vogel, M J, Vincent-Delorme, C, Vanlerberghe, C, Mezel, A, Van Der Zwaag, B, Smol, T, Boussion, S   +8 more
core  

Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome – a comprehensive morphometric analysis with active staining contrast-enhanced MRI

NeuroImage, 2020
Down Syndrome is a chromosomal disorder that affects the development of cerebellar cortical lobules. Impaired neurogenesis in the cerebellum varies among different types of neuronal cells and neuronal layers.
Da Ma, Manuel J. Cardoso, Maria A. Zuluaga, Marc Modat, Nick M. Powell, Frances K. Wiseman, Jon O. Cleary, Benjamin Sinclair, Ian F. Harrison, Bernard Siow, Karteek Popuri, Sieun Lee, Joanne A. Matsubara, Marinko V. Sarunic, Mirza Faisal Beg, Victor L.J. Tybulewicz, Elizabeth M.C. Fisher, Mark F. Lythgoe, Sebastien Ourselin   +18 more
doaj   +1 more source