Results 231 to 240 of about 1,540,335 (330)

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

A pathogenic titin missense mutation in hiPSC-derived cardiomyocytes predisposes to ventricular fibrillation in acute ST-segment elevation myocardial infarction. [PDF]

Front Cardiovasc Med
Ji YY, Wu Y, Sun J, Lin XX, Chen XM, Ji CC, Liu LJ, Cheng YJ, Wu SH.   +8 more
europepmc   +1 more source

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American Journal of Medical Genetics. Part A, 2011
N. D. Rendtorff, M. Lodahl, Houda Boulahbel, I. R. Johansen, A. Pandya, K. O. Welch, Virginia W. Norris, K. Arnos, M. Bitner-Glindzicz, Sarah B. Emery, M. Mets, T. Fagerheim, Kristina Eriksson, L. Hansen, Helene Bruhn, C. Möller, Sture Lindholm, Stefan Ensgaard, M. Lesperance, L. Tranebjaerg   +19 more
semanticscholar   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

A Comprehensive Mutational and Histopathological Analysis of STK11-Mutant Non-Small Cell Lung Carcinomas. [PDF]

Mod Pathol
Pineda CM, Guan Z, Kwon H, Rangachari D, Costa DB, VanderLaan PA.   +5 more
europepmc   +1 more source

Restoring expression of wild-type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation.

Journal of Clinical Investigation, 2011
Yongxing Wang, Young-Ah Suh, Maren Y. Fuller, J. Jackson, S. Xiong, Tamara Terzian, A. Quintás-Cardama, J. Bankson, A. El-Naggar, G. Lozano   +9 more
semanticscholar   +1 more source

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, EarlyView.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source

Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing. [PDF]

Diagnostics (Basel)
Akbulut S, Is S, Koprulu TK, Varol FI, Kucukakcali Z, Colak C, Koc A, Tekin S, Yilmaz S.   +8 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Functional analysis of telomere maintenance mechanisms is more informative than immunohistochemistry for ATRX mutation interpretation in Gliomas. [PDF]

Acta Neuropathol Commun
Guerriau C, Léonce C, Carpentier C, Mokhtari K, Bielle F, Dridi-Aloulou A, Lomonte P, Meyronet D, Sanson M, Castro-Vega L, Poncet DA.   +10 more
europepmc   +1 more source