Results 171 to 180 of about 320,413 (381)

Genetic Predisposition to Higher Blood Pressure Increases Risk of Incident Hypertension and Cardiovascular Diseases in Chinese [PDF]

, 2015
Xiangfeng Lu, Jianfeng Huang, Laiyuan Wang, Shufeng Chen, Xueli Yang, Jianxin Li, Jie Cao, Jichun Chen, Ying Li, Liancheng Zhao, Hongfan Li, Fangcao Liu, Chen Huang, Chong Shen, Jinjin Shen, Ling Yu, Lihua Xu, Jianjun Mu, Xianping Wu, Xu Ji, Dongshuang Guo, Zhengyuan Zhou, Zili Yang, Renping Wang, Jun Yang, Weili Yan, Dongfeng Gu   +26 more
openalex   +1 more source

Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol [PDF]

, 2023
Stephanie Best, Abdullah Al Mahmud, Shivani Tyagi, Jack C.W. Wheeler, Abdur Rahim Mohammad Forkan, Alexandra Lewis, Muhammad Nadeem Shuakat, Rohit Kaul, Aisha Ward, Nilmini Wickramasinghe, Prem Prakash Jayaraman, Alison H. Trainer   +11 more
openalex   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases [PDF]

, 2016
Nicole Hellenthal, Anna Gaertner, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting   +8 more
openalex   +1 more source

Genetic Predisposition of Diabetes to Coronary Artery Disease Due to ApoE Gene Polymorphism Using Allele Discrimination Real-Time Analysis as a Diagnostic Tool [PDF]

, 2023
Mohammed Noori Salman, Abdulhussein Alwan Faraj aljanabi, Thekra A. Al-Kashwan   +2 more
openalex   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis [PDF]

, 2017
P.A. Juge, Raphaël Borie, Caroline Kannengiesser, Steven Gazal, Patrick Revy, Lidwine Wémeau-Stervinou, M Debray, Stefania Ottaviani, S. Marchand‐Adam, Nadia Nathan, Gabriel Thabut, Christophe Richez, Hilario Nunès, Isabelle Callebaut, A. Justet, Pascal Richette, H. Lioté, Yannick Allanore, Olivier Sand, C Dromer, RM Flipo, A. Clément, Jean Sibilia, Baptiste Coustet, Vincent Cottin, Marie‐Christophe Boissier, B. Wallaert, T. Schaeverbeke, DLM Florence, Aline Frazier, Christelle Ménard, Martin Soubrier, Nathalie Saidenberg-Kermanac’h, Dominique Valeyre, Serge Amselem, Cathérine Boileau, B. Crestani, Philippe Dieudé   +37 more
openalex   +1 more source

Genetic predisposition of ischaemic heart disease [PDF]

Postgraduate Medical Journal, 1997
Kamejiro Yamashita, M. Odawara, A. Matsunuma   +2 more
openaire   +2 more sources

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source