Results 201 to 210 of about 340,355 (361)

Descriptive Rules for Achalasia of the Esophagus, June 2012: 4th Edition

Esophagus, 2017
Japan Esophageal Society
semanticscholar   +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

Acute Esophageal Mucosal Lesion Mimicking Severe Reflux Esophagitis in Diabetic Ketoacidosis: A Diagnostic Pitfall. [PDF]

Diagnostics (Basel)
Midori Y, Hayashi K, Hayashi M, Matsuda H.   +3 more
europepmc   +1 more source

Barrett's esophagus

, 2019
Barrett’s esophagus is a precancerous condition associated with an increased risk of esophageal adenocarcinoma. A diagnosis of Barrett’s esophagus may cause psychological stress with a negative impact on patients’ quality of life.
Cengia G., Zagari R. M., Neri M., Bazzoli F.   +3 more
core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Incidence of Barrett's esophagus and esophageal cancer following sleeve gastrectomy versus liraglutide therapy. [PDF]

Ann Gastroenterol
Butt E, Yang J.
europepmc   +1 more source

Esophagus segmentation in CT via 3D fully convolutional neural network and random walk

Medical Physics (Lancaster), 2017
T. Fechter, S. Adebahr, D. Baltas, Ismail ben Ayed, Christian Desrosiers, J. Dolz   +5 more
semanticscholar   +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

Melanosis of the esophagus [PDF]

Cancer, 1963
S, DE LA PAVA, G, NIGOGOSYAN, J W, PICKREN, A, CABRERA   +3 more
openaire   +2 more sources

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source