Results 31 to 40 of about 25,174 (207)
Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis.
Chih-Ping Chen +7 more
doaj +1 more source
The origin of monozygotic twinning
Reproductive BioMedicine Online, 2002 The incidence of monozygotic twinning appears to be increasing within the field of assisted human reproduction. Many theories have been put forward as to how and when this occurs. Whatever the cause, the normal events of embryo development, which necessarily involve axis formation, patterning and polarization, need to be adhered to in order to obtain a
openaire +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Case Reports in Pediatrics, 2013 Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies.
K. N. Venkateshwara Prasad +2 more
doaj +1 more source
Stem Cell Research, 2019 Despite a genetic component in the development of Parkinson’s disease (PD), monozygotic twin pairs often display discordance for PD. Here, we describe the generation of six human induced pluripotent stem cell (iPSC) lines from dermal fibroblasts of three
Marija Dulovic-Mahlow +10 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
Comparison of epidemiologic factors and eye manifestations of twin children with controls
BMC Ophthalmology, 2023 Purpose The present study was aimed to compare the epidemiological and ocular findings of twin children in comparison with non- twin age matched individuals as their control.
Zhale Rajavi +6 more
doaj +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Brazilian Oral Research, 2017 Palatal rugae patterns are anatomic structures considered unique to each person. Monozygotic twins present similarities, however, Rugoscopy in particular, may contribute to their individualization for forensic purposes.
Lara Maria HERRERA +3 more
doaj +1 more source
Discordant Keratoconus in Monozygotic Twins
Case Reports in Ophthalmology, 2022 We report a case of discordant keratoconus (KC) in a set of monozygotic twins with contrasting environmental risk factors. Twin one had bilateral, asymmetrical KC. He reported significant eye rubbing using his knuckles during his night-shift work as an emergency doctor. His usual sleeping position on the left side corresponded to the most affected eye.
Karen Bitton +3 more
openaire +3 more sources