Results 111 to 120 of about 13,281 (231)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Assessment of morphological left ventricular function in congenitally corrected transposition of great arteries - Can we use conventional tools for an unconventional assessment? [PDF]

Ann Pediatr Cardiol, 2023
Krishna MR, Sennaiyan UN.
europepmc   +1 more source

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi, Inga Voges, Lamia Ait‐Ali, Sonya Babu‐Narayan, Rene Botnar, Barbara Burkhardt, Adrienne Campbell‐Washburn, Dominik Daniel Gabbert, Georg Hansmann, Willem A. Helbing, Hasan Hosan, Sylvia Krupickova, Heiner Latus, Duarte Martins, Colin McMahon, Christian Meierhofer, Vivek Muthurangu, Tiina Ojala, Pim van Ooij, Claudia Prieto, Milan Prsa, Kuberan Pushparajah, José F. Rodríguez Palomares, Samir Sarikouch, Lars Grosse‐Wortman, F. Gerald Greil, Heynric Grotenhuis   +26 more
wiley   +1 more source

Zeb2 Controls Retinal Physiological and Pathological Angiogenesis by Regulating Astrocyte Proliferation and Differentiation

Cell Proliferation, EarlyView.
During development, the oxygen‐sensitive transcription factor Zeb2 restrains astrocyte proliferation and maturation to ensure balanced retinal angiogenesis. In disease, it promotes the neurotoxic A1 astrocyte phenotype and inflammation, thereby promoting reparative revascularization over pathological neovascularization.
Jing Liu, Yanan Guo, Kangjian Xiang, Shuyi Wang, Dongchang Xiao, Mengqing Xiang   +5 more
wiley   +1 more source

Prenatal diagnosis of transposition of great arteries with left anterior aorta (SDL-TGA). [PDF]

Ann Pediatr Cardiol, 2022
Alawani SS, Srimurugan B, Kottayil B, Vaidyanathan B.   +3 more
europepmc   +1 more source

Oral Butyrate Reduces Progression of Kidney Damage in an L‐NAME‐Induced Diabetic Kidney Disease Mouse Model

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Diabetic kidney disease (DKD) is one of the main causes of kidney failure worldwide. Interestingly, patients affected by DKD are characterised by a low abundance of gut bacteria producing short fatty acids including butyrate, which is suggested to play a role in the decline of renal function.
Maria Novella Nicese, Angela Koudijs, Reshma Lalai, Cristina Avramut, Rico J. E. Derks, Elena Sánchez‐López, Martin Giera, Amanda C. M. Pronk, Artemiy Kovynev, Sander Kooijman, Patrick C. N. Rensen, Roel Bijkerk, Bernard M. van den Berg, Joris I. Rotmans   +13 more
wiley   +1 more source

Dextro-Transposition of Great Arteries and Neurodevelopmental Outcomes: A Review of the Literature. [PDF]

Children (Basel), 2022
Kordopati-Zilou K, Sergentanis T, Pervanidou P, Sofianou-Petraki D, Panoulis K, Vlahos N, Eleftheriades M.   +6 more
europepmc   +1 more source

Survival After Diagnosis of Cardiovascular Disease in Survivors of Adolescent and Young Adult Lymphoma

European Journal of Haematology, EarlyView.
ABSTRACT Cardiac dysfunction is a major morbidity among survivors of adolescent and young adult (AYA) lymphoma. Although high mortality after cardiovascular disease (CVD) diagnosis has been shown in other cancer survivor populations, this has not been investigated in a diverse population of survivors of AYA lymphoma.
Karan Gowda, Medha Gupta, Adrian Aguilar, Carlos Cruz, Amanda Warner, Elizabeth R. Rodriguez, Sairah Ahmed, Branko Cuglievan, Joel Milam, David R. Freyer, Kimberly A. Miller, Greg Aune, Debra Eshelman‐Kent, Karen Albritton, Efstratios Koutroumpakis, Michael E. Roth, Jian Wang, Michelle A. T. Hildebrandt   +17 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Three-dimensional electroanatomical mapping guided right bundle branch pacing in congenitally corrected transposition of great arteries. [PDF]

Europace, 2023
Namboodiri N, Kakarla S, Mohanan Nair KK, Abhilash SP, Saravanan S, Pandey HK, Vijay J, Sasikumar D, Valaparambil AK.   +8 more
europepmc   +1 more source