Results 221 to 230 of about 187,376 (271)

Chronic atrial and intestinal dysrhythmia: A rare genetic disorder of intestinal pseudo‐obstruction

JPGN Reports, EarlyView.
Abstract Pediatric intestinal pseudo‐obstruction (PIPO) is a rare and severe disorder of gastrointestinal (GI) motility; patients with PIPO display signs and symptoms of intestinal obstruction in the absence of occluding lesions. Chronic atrial and intestinal dysrhythmia (CAID) syndrome is an exceedingly rare autosomal recessive disorder caused by ...
Kanya Ahuja, Shivany Pathania, Nicole Baron, Julie Khlevner, Martin Bialer, Jennifer Mait‐Kaufman   +5 more
wiley   +1 more source

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

Carbohydrate malabsorption mimicking immune dysregulation: A histological challenge

JPGN Reports, EarlyView.
Abstract We report a case of neonatal‐onset intractable diarrhea, where the patient's histologic findings suggested immune dysregulation. However, genetic testing revealed compound heterozygous variants in the SLC5A1 gene. This case report adds to the existing literature by demonstrating that severe carbohydrate malabsorption can cause inflammatory ...
Seyma Eroglu, Sara Nandolia, Yujie Zhang, Lysandra Voltaggio, Anthony L. Guerrerio   +4 more
wiley   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes. [PDF]

Genes Chromosomes Cancer
Carapezza G, Minardi SP, Noci S, Pintarelli G, Zanutto S, Incarbone M, Tosi D, Dragani TA, Colombo F, Pierotti MA, Gariboldi M.   +10 more
europepmc   +1 more source

Circulating Tumor DNA as a Marker of Recurrence Risk in Stage III Colorectal Cancer: The α‐CORRECT Study

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background and Objectives Identification of colorectal cancer (CRC) patients at high risk of recurrence could be of substantial clinical use. We evaluated the association of ctDNA status, using a tumor‐informed assay, with recurrence‐free survival (RFS). Methods Stage III CRC patients were enrolled between 2016 and 2020.
Brenda Diergaarde, Greg Young, David W. Hall, Amin Mazloom, Gina L. Costa, Soma Subramaniam, Melanie R. Palomares, Jorge Garces, Frederick L. Baehner, Robert E. Schoen, Exact Sciences MRD Group, Gargi Basu, Jennifer Bungo, Darl Flake, John Hu, Scott Hunicke‐Smith, Andrea Johnson, Janine LoBello, Steve Lockton, Tara Marti, Suzanne Melanson, Bingbing Song, Matthew Wallace, Michal Wojcik, Martin You, Jenny You   +25 more
wiley   +1 more source

Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study. [PDF]

JRSM Cardiovasc Dis
Tran VT, Pham HM, Phan PD, Tran TH, Tran VK.   +4 more
europepmc   +1 more source

Genomic Profiling of Biliary Tract Cancers: Comprehensive Assessment of Anatomic and Geographic Heterogeneity, Co‐Alterations and Outcomes

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background Biliary tract cancers (BTCs) represent distinct biological and genomic entities. Anatomic and geographic heterogeneity in genomic profiling of BTC subtypes, genomic co‐alterations, and their impact on long‐term outcomes are not well defined.
Diamantis I. Tsilimigras, Hunter Stecko, Dimitrios Moris, Timothy M. Pawlik   +3 more
wiley   +1 more source

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing. [PDF]

BMC Med Genomics
Bengl D, Koparir A, Prastyo WE, Remmele C, Dittrich M, Flandin S, Shehata-Dieler W, Grimm C, Haaf T, Hofrichter MAH.   +9 more
europepmc   +1 more source