Results 41 to 50 of about 31,362 (252)

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

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

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, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

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, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease

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, Agnieszka Lukomska, Sokhna Haissatou Diaw, Alexander Balck, Max Borsche, Karen Grütz, Insa Lenz, Franziska Rudolph, Katja Lohmann, Christine Klein, Philip Seibler   +10 more
doaj   +1 more source

Pili torti and multiple facial milia as an expression of ectodermal dysplasia in monozygotic twins

, 2014
Introduction . Genodermatoses – congenital diseases with diverse clinical presentation – are caused by ectodermal defects. pili torti and milia may be features of these defects. Concomitantly these symptoms are present in rare genodermatoses: Bazex-Dupre-
Aneta Szczerkowska-Dobosz, Dorota Purzycka-Bohdan, Roman Nowicki, Monika Sikorska   +3 more
core   +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, Hamideh Sabbaghi, Reza Hasani, Narges Behradfar, Saeid Abdi, Bahareh Kheiri, Azadeh Haseli-Mofrad   +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, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Mirror imaging cleft lip in monozygotic twins

, 1995
Although genetic and environmental factors have been found to effect the occurrence of cleft lip, many aspects of its etiology are still unclear. The value of the studies on monozygotic twins has been accepted by many authors.
Karademir, S., Karaça, C., Karatas, O., MENDERES, ADNAN, YILMAZ, MUSTAFA   +4 more
core   +1 more source

Differentiation between palatal rugae patterns of twins by means of the Briñón method and an improved technique

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, Raíssa Ananda Paim STRAPASSON, Luiz Eugênio Nigro MAZZILLI, Rodolfo Francisco Haltenhoff MELANI   +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, Mathieu Dubois, Sarah Moran, Damien Gatinel   +3 more
openaire   +3 more sources