Results 41 to 50 of about 214,123 (285)
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
BMC Medical GenomicsPurpose To explore possible pathogenic genes for concomitant exotropia using whole-exome sequencing. Methods In this study, 47 individuals from 10 concomitant exotropia (including intermittent exotropia and constant exotropia) pedigrees were enrolled ...
Wenhua Duan +4 more
doaj +1 more source
Evaluation of Factors Affecting the Outcomes of Strabismus Surgery and Treatment of Amblyopia
Namık Kemal Tıp Dergisi, 2022 Aim:It was aimed to determine the factors affecting outcomes in concomitant esotropia and treatment of amblyopia.Materials and Methods:The records of 159 patients in Haydarpaşa Numune Training and Research Hospital, Clinic of Ophthalmology, Strabismus ...
Umut GÜNER, İbrahim ŞAHBAZ
doaj +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Adaption of Binocularity to Concomitant Strabismus
, 2019 Kurzfassung Ziel- und Problemstellung: Diese Arbeit beschäftigt sich mit den sensorischen Anpassungen an konkomitante Strabismusformen sowie deren Diagnostik und Behandlungsmöglichkeiten.
Walchhofer, Tatjana
core +2 more sources
Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia [PDF]
, 2019 Purpose: To detect eye tracking abnormalities in children with strabismus in the absence or presence of amblyopia. Methods: A total of 100 patients aged 7 to 17 years were enrolled prospectively for 2 years from the pediatric ophthalmology clinic of the ...
Rana Houry +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
РЕЗУЛЬТАТЫ ОБЪЕКТИВНОЙ АККОМОДОМЕТРИИ ПРИ СОДРУЖЕСТВЕННОМ КОСОГЛАЗИИ
Российский офтальмологический журнал, 2018 Purpose. This paper presents the results of objective accommodation measurements taken from patients with concomitant strabismus. Materials and methods. The experiment was performed on 32 patients (64 eyes) ranging from 5-26 years of age (in average 13.5
E. P. Tarutta +5 more
doaj +1 more source