Results 41 to 50 of about 1,182,962 (159)
Molecular Cytogenetics, 2020 Background Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial features that are absent when the ...
Emiy Yokoyama +9 more
doaj +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
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 +2 more
doaj +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes
Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari +7 more
wiley +1 more source
, 2021 Summary: • Duane Syndrome -congenital absence of 6th cranial nerve o Types 1. Problems with abduction 2. Problems with adduction 3. Problems with both abduction and adduction 4.
Andrew G. Lee, MD; Smruti Rath
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Ocular Misalignment and Motility Limitation in Orbital Tumors
Journal of Ophthalmology, Volume 2026, Issue 1, 2026.Purpose To predict prognosis and aid in the treatment of residual strabismus/ocular misalignment by analyzing the pattern of ocular motility disturbances caused by orbital tumors, and investigating factors associated with the severity of misalignment or motility limitation.
Min Seok Kang +4 more
wiley +1 more source
Primary Position Deviation in Duane\u27s Syndrome [PDF]
, 1972 The diagnosis of an esotropic patient as having Duane\u27s syndrome is not always clinically evident. There has been a paucity of attention directed to the size of the esodeviation in patients with this syndrome. The purpose of this paper is to point out
Wong, Guy Y. +3 more
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Surgical management of enophthalmos in Duane syndrome.
, 2013 Duane syndrome is a congenital disorder of eye movement characterized by partial or absent development of the sixth cranial nerve nucleus and/or the sixth nerve itself.
FADDA, Maria Teresa +8 more
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Magnetic resonance imaging (MRI) in Duane retraction syndrome
Journal of Clinical Ophthalmology and Research, 2016 Purpose: To study the magnetic resonance imaging (MRI) findings in Duane retraction syndrome (DRS). Materials and Methods: In this case–control study, 16 consecutive cases of Duane syndrome underwent MRI of the brain and orbit, after informed consent ...
Siddharth Agrawal +5 more
doaj +1 more source
Journal of Medical Virology, Volume 97, Issue 11, November 2025.ABSTRACT The lingering effects of COVID‐19 may impair survivors' long‐term health‐related quality of life (HRQoL). However, multicentre studies focusing on the Omicron variant, particularly in middle‐ and low‐income settings, are scarce. We conducted a prospective cohort study across 24 Brazilian hospitals between December 2021 and March 2024, when ...
Geraldine Trott +55 more
wiley +1 more source