Results 241 to 250 of about 546,461 (357)

Right ventricular outflow tract morphology and its clinical significance for invasive procedures. [PDF]

Sci Rep
Jakiel M, Jakiel R, Batko J, Dyngosz E, Kurek M, Gutkowska K, Hołda J, Bolechała F, Strona M, Hołda MK.   +9 more
europepmc   +1 more source

Rotatory Crossgraphy (Rotatory Cross Section Radiography) of Ventricles and Subarachnoid Cisterns

, 1952
Shinji Takahashi, Seiichi Anzai, Junnosuke Obara   +2 more
openalex   +2 more sources

Case of Tuberculosis of the Ventricle of the Larynx, Treated by Partial Excision of the Ventricular Band [PDF]

, 1928
James Dundas‐Grant
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Cardiorenal Syndrome in Adults with Congenital Heart Disease. [PDF]

J Clin Med
Upadhyay S, Dodeja AK, Toro-Salazar O, Fairchild W, Han F.   +4 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Syringomyelia Associated with Magendie's Foramen Obstruction Due to Probably Congenital Gliomesenchymal Anomaly. [PDF]

NMC Case Rep J
Kumagai S, Ogura R, Shibuya K, On J, Saito S, Sano M, Kakita A, Oishi M.   +7 more
europepmc   +1 more source

On Serous Effusion from the Membranes and into the Ventricles of the Brain, and its Connection with Apoplexy and other Diseases of the Brain [PDF]

John R. Sims
openalex   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Imaging and evaluation of cervicothoracic lymphatic drainage pathways in single ventricle patients with Fontan circulation using the mDixon steady state MR angiography. [PDF]

BMC Med Imaging
Huhndorf M, Langguth P, Seoudy H, Jansen O, Uebing A, Hansen JH, Voges I.   +6 more
europepmc   +1 more source