Results 81 to 90 of about 79,932 (302)

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The monogenic signal of potential-field data: A Python implementation

, 2017
We have developed codes to calculate the local amplitude, the local phase, and the local orientation of the nonscale and the Poisson’s scale-space monogenic signals of potential-field data in version 1.0 of the open-source program Monogenic.
Marlon C. Hidalgo-Gato, Valéria C. F. Barbosa   +1 more
core   +1 more source

Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç, Jill K. Tjon, Ingeborg H. Linskens, Nienke Kok, Julia Slootbeek, Maria B. Tan‐Sindhunata, Harold van Bosse, Sara Lemin, Isabel Filges, Klaus Dieterich, Remco Jansen, Ani Samargian, Victoria Castillo‐Sánches, Judith G. Hall, Johanna I. P. de Vries   +14 more
wiley   +1 more source

Special Considerations in Pediatric Inflammatory Bowel Disease Pathology

Diagnostics
Inflammatory bowel disease (IBD) in the pediatric population presents distinct characteristics compared to adult cases. Pathology plays a critical role in its diagnosis, and this review underscores key considerations in the pathologic evaluation of ...
Alicia R. Andrews, Juan Putra
doaj   +1 more source

Pachygyria/hypogenitalism: a monogenic syndrome

, 1999
We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism.
Phadke, Shubha R., Agarwal, S. S., Pradhan, M., Jain, S.   +3 more
core   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Significant Weight Loss on a Modified Ketogenic Diet and Intermittent Fasting in a Child With Monogenic Obesity: A Case Report

Dr. Sulaiman Al Habib Medical Journal
Melanocortin-4 receptor (MC4R) mutations disrupt body weight homeostasis and the appetite-feedback loop, affecting approximately 1%–6% of the population.
Bushra Hafez, Zainab Alghamdi, Abdullah Alkhani   +2 more
doaj   +1 more source

Accelerated Epigenetic Aging in Frontotemporal Dementia Highlights Smoking, Inflammation, and Metabolic Signals

Annals of Neurology, EarlyView.
Objective Epigenetic clocks are biomarkers of biological aging influenced by lifestyle and systemic factors. Accelerated epigenetic aging has been associated with neurodegeneration, but its relevance in frontotemporal dementia is unclear. We investigated biological aging in frontotemporal dementia using the GrimAge2 epigenetic clock, a DNA methylation ...
Daphne Nijland, Sven J. van der Lee, Eska Marye de Haan, Naren Ramesh, Sterre C.M. de Boer, Everard G.B. Vijverberg, Henne Holstege, Yolande A.L. Pijnenburg, Roel A. Ophoff, Lianne M. Reus   +9 more
wiley   +1 more source

On monogenic mappings of the quaternionic variable [PDF]

, 2016
В работе [1] рассмотрен класс, так называемых, G-моногенных (дифференцируемых по Гато) кватернионных отображений. В этой работе введены кватернионные H-моногенные (дифференцируемые по Хаусдорфу) отображения и установлена связь между G-моногенными и H ...
Кузьменко, Т.С., Шпаковский, В.С.   +1 more
core   +1 more source