Results 61 to 70 of about 2,305,085 (281)

Mobius Syndrome with Duane Retraction: Abducens Nerve Aplasia and Facial Nerve Hypoplasia

Türk Oftalmoloji Dergisi, 2013
Mobius syndrome is a multisystem disorder and typically presents with 6th and 7th cranial nerves involvement. Neuroimaging studies have demonstrated crucial findings which may pave the way for understanding the basic pathophysiology of this rare entity.
Murat Küçükevcilioğlu, Fatih Mehmet Mutlu, Osman Melih Ceylan, Halil İbrahim Altınsoy, Turan Ilıca   +4 more
doaj   +1 more source

Magnetic Resonance Imaging Findings in Patients With Duane Retraction Syndrome

Journal of neuro-ophthalmology, 2023
Supplemental Digital Content is Available in the Text. Background: Duane retraction syndrome (DRS) is known to relate to the absence of the abducens nucleus, with abnormal innervation of the lateral rectus (LR) muscle by branches of the oculomotor nerve (
Yatu Guo, Quan Zhang, Tingting Zhang, Lingzhi Guo, Shichang Liu, Kanxing Zhao, Wei Zhang   +6 more
semanticscholar   +1 more source

Early‐career genetic counselors' professional identity formation through experiences with continuing education at a professional conference

Journal of Genetic Counseling, Volume 34, Issue 5, October 2025.
Abstract This research aimed to describe professional identity (PI) and professional identity formation (PIF) of early‐career genetic counselors (GCs) attending a professional conference. PI is a sense of self within a professional community and includes interpersonal and intrapersonal characteristics that reflect shared values of the field.
Rachel Mills, Susan J. Barcinas
wiley   +1 more source

Multi‐ancestry meta‐analysis identifies genetic modifiers of age‐at‐onset of Alzheimer's disease at known and novel loci

Alzheimer's &Dementia, Volume 21, Issue 9, September 2025.
Abstract INTRODUCTION Much of Alzheimer's disease (AD) risk is explained by age, apolipoprotein E (APOE) genotype, and sex. We sought to identify genetic modifiers of age at onset (AAO) of AD while probing the influence of sex and APOE among those with diverse ancestry.
Elizabeth E. Blue, Jai Broome, Diane Xue, Hanley Kingston, Nicola H. Chapman, Stephanie Gogarten, Alzheimer's Disease Genetics Consortium (ADGC), Adam C. Naj, Ellen M. Wijsman   +8 more
wiley   +1 more source

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

BMC Medical Genomics, 2023
Background SALL4 , a member of the SALL genes family, encodes a zinc-finger transcriptional factor that either activates or represses gene transcription depending on cell type during embryonic development.
Mobarakeh Ajam-Hosseini, Farshid Parvini, A. Angaji   +2 more
semanticscholar   +1 more source

Genome‐wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures

Alzheimer's &Dementia, Volume 21, Issue 9, September 2025.
Abstract INTRODUCTION Identifying pleiotropy for blood pressure (BP) and cognitive performance measures may indicate mechanistic links between hypertension and Alzheimer's disease (AD). METHODS We performed a pleiotropy genome‐wide association study (GWAS) for paired measures of systolic, diastolic, pulse, and mean arterial pressure with memory ...
Moonil Kang, Ting Fang Alvin Ang, Sherral A. Devine, Richard Sherva, Shubhabrata Mukherjee, Emily H. Trittschuh, Phoebe Scollard, Michael Lee, Seo‐Eun Choi, Brandon Klinedinst, Connie Nakano, Logan C. Dumitrescu, Timothy J. Hohman, Michael L. Cuccaro, Andrew J. Saykin, Walter A. Kukull, David A. Bennett, Li‐San Wang, Richard P. Mayeux, Jonathan L. Haines, Margaret A. Pericak‐Vance, Gerard D. Schellenberg, Paul K. Crane, Rhoda Au, Kathryn L. Lunetta, Jesse Mez, Lindsay A. Farrer   +26 more
wiley   +1 more source

Management of duane retraction syndrome

Journal of the Egyptian Ophthalmological Society, 2019
Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan, Ghada Z. El-Abedin Abd El-Rahman Rajab, Abd El-Khalik I El-Saadani, Hatem M Marey   +3 more
doaj   +1 more source

Thalidomide-induced Teratogenesis : History and Mechanisms [PDF]

, 2015
Peer reviewedPublisher ...
Arlen RR, Hamanishi C, Jonsson NA, Lenz W, Lenz W, Livingstone G, McBride W, Ng SS, Packard DS, Ruffing L, Schmidt M, Smith RL, Soules BJ, UK Government Report   +13 more
core   +1 more source

The Mechanisms Through Which Fire Drives Population Change in Terrestrial Biota

Global Change Biology, Volume 31, Issue 9, September 2025.
Understanding the mechanisms through which fire influences populations is necessary to protect species from fire regime change. We develop a cross‐taxa framework that identifies mechanisms through which fire regimes influence terrestrial species populations, including for amphibians, birds, fungi, insects, mammals, plants, and reptiles.
Ella Plumanns‐Pouton, Julianna L. Santos, Cristina Aponte, Lluís Brotons, Luke T. Kelly, Stephen C. Mason Jr., Kirsten Parris, Lauren Ponisio, David A. Keith   +8 more
wiley   +1 more source

Duane′s retraction syndrome with severe upshoot and ipsilateral superior rectus contracture: A rare presentation

Journal of Clinical Ophthalmology and Research, 2014
Type III Duane′s retraction syndrome (DRS) is a rare condition and represents only 1% of all cases of Duane′s syndrome. It consists of limited/absent abduction as well as adduction of the affected eye.
Priyanka Arora, Suma Ganesh, Varshini Shanker   +2 more
doaj   +1 more source