Results 81 to 90 of about 17,833 (262)

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

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

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

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  

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Study of Genetic Aberrations of Sex Chromosome for Turner Syndrome in Peripheral

Iraqi Journal of Cancer and Medical Genetics, 2011
In this study we do achromosomal analysis to 26 iraqi patients with confirmed Turner Syndrom , after subjected to medical examination by their doctors. Turner Syndrom is achromosomal abnormalities in X chromosome .the age of pateins are among (5-25) years old and divided into tow groups ,the first one is patients with age below 12 years old and the ...
openaire   +1 more source

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