Results 151 to 160 of about 338,427 (314)

Porcelain aorta [PDF]

European Heart Journal, 2011
Hector I, Michelena, Charanjit S, Rihal, Maurice, Enriquez-Sarano   +2 more
openaire   +2 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

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

The aorta at the center

Jornal Vascular Brasileiro, 2023
Andre Brito-Queiroz, Grace Carvajal Mulatti, Vanessa Prado dos Santos   +2 more
openaire   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Utrecht Groen & Gezond

, 2014
Met deze publicatie maakt Aorta een eerste stap naar een groenere en gezondere stad. Daarin wordt verkend wat dat betekent voor de inrichting van de stad (ontwerp), welke partijen daarin zouden kunnen acteren (rollen) en hoe dat betaald wordt (kosten en ...
van der Heide, R., Klemm, W., Heide, R., van der, Meijer, A., Helsdingen, A., van, Paalvast, E., van Helsdingen, A.   +6 more
core  

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Test of Nanoherbal Effectiveness of Gagatan Harimau Leaves (Vitis Gracilis Wall.) on Aorta Heart Histomorphometries of Male Wistar Rats (Rattus norvergicus L.) in Aloksan-Induced Diabetes Mellitus Model

The phytochemical screening of gagatanharimau revealed the presence of secondary metabolites, which have the potential to be used as herbal medicine for improving organ structure.
Firmansyah, Yudha
core  

The visco-elastic properties of the arterial wall.

, 1960
PhDThe visco-elastic properties of the arterial wail are of importance in determining the behaviour of the circulatory system for the pulse wave is a relatively rapid event.
Bergel, D.H.
core