Results 91 to 100 of about 36,631 (311)

Prenatal Diagnosis of mos45,X/46,X,+mar in a Fetus With Normal Male External Genitalia and a Literature Review

Taiwanese Journal of Obstetrics & Gynecology, 2009
Objective: Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of
Shu-Chin Chien, Chih-Ping Chen, Chyi-Chyang Lin, Li-Chia Huang, Cheng-Tiao Hsieh, Fuu-Jen Tsai   +5 more
doaj   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]

, 2017
Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric, Aguirre, Aitor, Arias, Angelo D, Benaglio, Paola, Berggren, W Travis, Borja, Victor, Chi, Neil C, Cook, Megan, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Dargitz, Carl T, DeBoever, Christopher, Diffenderfer, Kenneth E, Donovan, Margaret KR, Drees, Frauke, Evans, Sylvia M, Farnam, KathyJean, Feiring, Rachel, Frazer, Kelly A, Garcia, Melvin, Goldstein, Lawrence SB, Greenwald, William W, Grinstein, Jonathan D, Harismendy, Olivier, Hashem, Sherin I, Hishida, Yuriko, Izpisua Belmonte, Juan Carlos, Jakubosky, David A, Jepsen, Kristen, Li, He, Loring, Jeanne F, Matsui, Hiroko, McGarry, Thomas J, Miller, Carl A, Modesto, Veronica, Müller, Franz-Josef, Nariai, Naoki, Nelson, Bradley C, O'Connor, Daniel T, Okubo, Jonathan, Panopoulos, Athanasia D, Rao, Fangwen, Reyna, Joaquin, Schuldt, Bernhard M, Smith, Erin N, Williams, Roy, Yeo, Gene W, Zhao, Chang   +47 more
core   +2 more sources

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Chromosomal aberrations and oxidative DNA adduct 8-hydroxy-2-deoxyguanosine as biomarkers of radiotoxicity in radiation workers

Journal of Radiation Research and Applied Sciences, 2016
Background: There are evidences of association between occupational radiation exposure, cytogenetic alterations and the increase in cancer rates. It is known that the probability of carcinogenesis is greater in populations exposed to radiation, since ...
Sanaa A. El-Benhawy, Nadia A. Sadek, Amal K. Behery, Noha M. Issa, Osama K. Ali   +4 more
doaj   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 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

Ten cases with 46,XX testicular disorder of sex development: single center experience

International Brazilian Journal of Urology
Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic.
Emre Can Akinsal, Numan Baydilli, Abdullah Demirtas, Cetin Saatci, Oguz Ekmekcioglu   +4 more
doaj   +1 more source

A global view of the oncogenic landscape in nasopharyngeal carcinoma : an integrated analysis at the genetic and expression levels [PDF]

, 2012
Previous studies have reported that the tumour cells of nasopharyngeal carcinoma (NPC) exhibit recurrent chromosome abnormalities. These genetic changes are broadly assumed to lead to changes in gene expression which are important for the pathogenesis of
Amari, Aicha, Arrand, J. R. (John R.), Bell, Andrew I., Chen, Xiaoyi, Dawson, Christopher W., Derkaoui, K. Dalia, Hu, Chunfang, Joab, Irène, Maloney, Stephanie L., Murray, Paul G., Nicholls, J. M. (John M.), Shao, Jian-Yong, Sihota, Sim K., Wei, Wenbin, Woodman, Ciaran B. J., Yao, Yunhong, Young, Lawrence S.   +16 more
core   +4 more sources