Results 71 to 80 of about 67,325 (296)

Isolated anorectal malformation with rectoperineal fistula in monozygotic twins

Journal of Pediatric Surgery Case Reports, 2019
Incidence of anorectal malformation (ARM) is reportedly 1 in approximately 2500–5000 live births. While its etiology remains elusive, most evidence indicates genetic factors to be the major cause.
Yuki Muta, Akio Odaka, Seiichiro Inoue, Yoshifumi Beck   +3 more
doaj  

Increased expression and altered methylation of HERVWE1 in the human placentas of smaller fetuses from monozygotic, dichorionic, discordant twins. [PDF]

PLoS ONE, 2012
BACKGROUND: The human endogenous retroviral family W, Env(C7), member 1 gene (HERVWE1) is thought to participate in trophoblast cell fusion, and its expression is diminished in the placentas of singleton intrauterine growth-retarded pregnancies. However,
Yu Gao, Zhiming He, Zilian Wang, Yanmin Luo, Hongyu Sun, Yi Zhou, Linhuan Huang, Manchao Li, Qun Fang, Shiwen Jiang   +9 more
doaj   +1 more source

Heritability curves: a local measure of heritability [PDF]

arXiv, 2020
This paper introduces a new measure of heritability which relaxes the classical assumption that the degree of heritability of a continuous trait can be summarized by a single number.This measure can be used in situations where the trait dependence structure between family members is nonlinear, in which case traditional mixed effects models and ...
arxiv  

Three-dimensional study of grain scale tensile twinning activity in Mg: A combination of microstructure characterization and mechanical modeling [PDF]

arXiv, 2023
Tensile twinning is a main deformation mode in hexagonal close packed structure metals, so it is important to comprehensively understand twinning mechanisms which are not fully disclosed using 2D or small volume 3D characterization techniques. A large area 3D electron backscatter diffraction (EBSD) measurement and crystal plasticity modeling were ...
arxiv  

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, EarlyView.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report

Italian Journal of Pediatrics, 2020
Background Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies and are among the most common DICER1-related disorders: it is estimated that 75–80% of children with a PPB have the DICER1 mutation.
Shihan Zhang, Xisi Wang, Sihui Li, Siyu Cai, Tong Yu, Libing Fu, Na Zhang, Xiaoxia Peng, Qi Zeng, Xiaoli Ma   +9 more
doaj   +1 more source

Comparison of brain connectomes using geodesic distance on manifold:a twin study [PDF]

arXiv, 2019
fMRI is a unique non-invasive approach for understanding the functional organization of the human brain, and task-based fMRI promotes identification of functionally relevant brain regions associated with a given task. Here, we use fMRI (using the Poffenberger Paradigm) data collected in mono- and dizygotic twin pairs to propose a novel approach for ...
arxiv  

Proteomic associations with fluctuation and long‐term changes in BMI: A 40‐year follow‐up study

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Introduction While some studies have explored associations between weight change and blood proteins, most have been intervention‐based, offering limited insight into proteomic associations with long‐term weight gain. It remains unclear whether plasma proteins are related to BMI fluctuation over time.
Alvaro Obeso, Gabin Drouard, Teemu Palviainen, Xiaoling Wang, Miina Ollikainen, Karri Silventoinen, Jaakko Kaprio   +6 more
wiley   +1 more source

Maltreatment-associated neurodevelopmental disorders: a co-twin control analysis [PDF]

, 2017
Background: Childhood maltreatment (CM) is strongly associated with psychiatric disorders in childhood and adulthood. Previous findings suggest that the association between CM and psychiatric disorders is partly causal and partly due to familial ...
Dinkler, Lisa, Gajwani, Ruchika, Gillberg, Christopher, Lichtenstein, Paul, Lundström, Sebastian, Minnis, Helen   +5 more
core   +2 more sources

Trigger Twins: 2 Cases of Ipsilateral Twin Trigger Digit and a Review of Published Literature

Case Reports in Orthopedics, 2019
Background. The aetiology of trigger digits has been debated since Notta first described them in 1850. Aetiology has been segregated for adult and paediatric presentations. While an adult trigger digit is most likely an acquired inflammatory process, the
David Brinkman, Gerard Sheridan, Michael O’Sullivan   +2 more
doaj   +1 more source