Results 21 to 30 of about 25,263 (215)

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism

Molecular Genetics & Genomic Medicine, 2020
Background Monozygotic twins with 45,X/46,XY mosaicism, discordant for phenotypic sex, are extremely rare. Methods This report describes the clinical findings of a rare case of 45,X/46,XY mosaicism in monozygotic twins with different external genitalia ...
Ken Takahashi, Taisuke Sato, Miyuki Nishiyama, Aiko Sasaki, Kosuke Taniguchi, Ohsuke Migita, Seiji Wada, Kenichiro Hata, Haruhiko Sago   +8 more
doaj   +1 more source

Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate

International Journal of Immunopathology and Pharmacology, 2019
Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However,
Luca Scapoli, Francesco Carinci, Annalisa Palmieri, Francesca Cura, Alessandro Baj, Giada Beltramini, Raffaella Docimo, Marcella Martinelli   +7 more
doaj   +1 more source

Molar incisor hypomineralisation: current knowledge and practice

International Dental Journal, EarlyView., 2020
Background Molar incisor hypomineralisation (MIH) is a common developmental dental condition that presents in childhood. Areas of poorly formed enamel affect one or more first permanent molars and can cause opacities on the anterior teeth. MIH presents a variety of challenges for the dental team as well as functional and social impacts for affected ...
Helen D. Rodd, Anna Graham, Niecoo Tajmehr, Laura Timms, Noren Hasmun   +4 more
wiley   +1 more source

Nested Selves: Self‐Organization and Shared Markov Blankets in Prenatal Development in Humans

Topics in Cognitive Science, EarlyView., 2023
Abstract The immune system is a central component of organismic function in humans. This paper addresses self‐organization of biological systems in relation to—and nested within—other biological systems in pregnancy. Pregnancy constitutes a fundamental state for human embodiment and a key step in the evolution and conservation of our species. While not
Anna Ciaunica, Michael Levin, Fernando E. Rosas, Karl Friston   +3 more
wiley   +1 more source

Concordant Intestinal Atresia in Two Pairs of Monozygotic Twins

American Journal of Perinatology Reports, 2011
Intestinal atresia in both twins from the same pregnancy is very rare. Only seven pairs of twins have been described. The authors report on two cases of monozygotic twins with different types of intestinal atresia and clinical evolution.
Mario Giuffrè, Mariavalentina Catania, Giovanni Corsello   +2 more
doaj   +1 more source

Discordant renal progression of Fabry disease in male monozygotic twins: a case report

Frontiers in Genetics, 2023
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A (α-GAL).
Do-Yun Lee, Jun-Yeong Jeong, Seung-Eun Lee, Jae-Hun Lee, Ju-Young Moon, Su Woong Jung, Sang-Ho Lee, Yang Gyun Kim   +7 more
doaj   +1 more source

A Twin Study of Genetic Contributions to Hippocampal Morphology in Schizophrenia

Neurobiology of Disease, 2002
Our goal was to establish whether altered hippocampal morphology represents a trait marker for genetic vulnerability in schizophrenia. We outlined the hippocampi on high-resolution MR images obtained from matched samples of control and discordant ...
Katherine L. Narr, Theo G.M. van Erp, Tyrone D. Cannon, Roger P. Woods, Paul M. Thompson, Seonah Jang, Rebecca Blanton, Veli-Pekka Poutanen, Matti Huttunen, Jouko Lönnqvist, Carl-Gustav Standerksjöld-Nordenstam, Jaakko Kaprio, John C. Mazziotta, Arthur W. Toga   +13 more
doaj   +1 more source

Equivalent DNA methylation variation between monozygotic co-twins and unrelated individuals reveals universal epigenetic inter-individual dissimilarity

Genome Biology, 2021
Background Although the genomes of monozygotic twins are practically identical, their methylomes may evolve divergently throughout their lifetime as a consequence of factors such as the environment or aging. Particularly for young and healthy monozygotic
Benjamin Planterose Jiménez, Fan Liu, Amke Caliebe, Diego Montiel González, Jordana T. Bell, Manfred Kayser, Athina Vidaki   +6 more
doaj   +1 more source

Indian twin registry: A gold mine for genetic studies

Asian Journal of Medical Sciences, 2023
Twins are a source of curiosity, both for the family and the scientific community. Genetic similarities between twins have been the preferred choice to study the heritability of traits.
Ruby Dhar , Arun Kumar , Subhradip Karmakar   +2 more
doaj   +1 more source

Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis

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, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang   +7 more
doaj   +1 more source