Results 81 to 90 of about 18,587 (264)

Sex chromosome aberrations and speech development. [PDF]

Archives of Disease in Childhood, 1973
M, Garvey, D E, Mutton
openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

Annals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source

A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

Taiwanese Journal of Obstetrics & Gynecology
Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo, Yuki Ito, Tomoko Kawai, Hiromi Kamura, Michihiro Yamamura, Mikiko Kaneko, Akihiro Hasegawa, Ken Takahashi, Masahisa Kobayashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto   +12 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

Chromosomal Studies In Individuals With Infertility

Revista Cubana de Investigaciones Biomédicas, 2019
Objective: To determine the chromosomal constitution of infertile individuals. Methodology: A cross-sectional descriptive study was carried out based on the results of the karyotypes in peripheral blood in infertile individuals.
Maria Elena de la Torre Santos, Manuela Herrera Martinez, Ana Esther Algora Hernandez, Gisela Noche Gonzalez, Arlan Machado Rojas, Madeivy Paz Garcia, Diley Rodriguez Conde, Estrella Reyes Hernandez, Carolina Machado de la Torre, Daniel Gonzalez Benitez   +9 more
doaj  

Ontogeny of murine bony semicircular canal form

The Anatomical Record, EarlyView.
Abstract The labyrinthine geometry and functional anatomy of the semicircular canals have intrigued scientists for decades, and there has been considerable interest in understanding how these complex structures grow and develop with evidence emerging from human studies that size maturation occurs exceptionally early by comparison with other systems ...
Marcela Cárdenas‐Serna, Nathan Jeffery   +1 more
wiley   +1 more source

Determining the timeline of gonadal and genital differentiation in male and female equine fetuses allows for early detection and intervention in malformations

The Anatomical Record, EarlyView.
Abstract Sexual differentiation in the equine fetus involves coordinated morphogenetic processes that shape both the gonads and the genital ducts. Although the formation of testes and ovaries has been relatively well documented, the temporal dynamics and morphometric patterns of the mesonephric (Wolffian) and paramesonephric (Müllerian) ducts remain ...
Tais Harumi de Castro Sasahara, Silvio Pires Gomes, Fabio Cesar Magioli Abdala, Bruno Cesar Schimming, Maria Angelica Miglino   +4 more
wiley   +1 more source

Cytogenetic analysis of couples with recurrent pregnancy loss in taiwan: A retrospective study of 451cases

Taiwanese Journal of Obstetrics & Gynecology
Objective: To evaluate the independent impact of age and gender on the prevalence of clinically significant chromosomal abnormalities in couples with recurrent pregnancy loss (RPL) and to provide Taiwanese clinicians with local genetic data for genetic ...
Fang-Tzu Wu, Fang-Ju Sun, Chih-Ping Chen
doaj   +1 more source

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley   +1 more source