Results 211 to 220 of about 178,485 (305)

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes. [PDF]

Hum Genet
Marianski K, Talcott JB, Stein J, Monaco AP, Fisher SE, Bishop DVM, Newbury DF, Paracchini S.   +7 more
europepmc   +1 more source

Genetic Insights into Chronic Kidney Disease through Whole Exome Sequencing of South Indian Patients: A Pilot study

Ragulraja Sivakumar, Pantchacharam Radhakrishnan, Aishwaryalakshmi Muthukannan, Vardhani Thimma Gopalram, Joy Wilson, Karthikeyan Ravi, Vandit Sevak, Krishnaswamy Sampathkumar, K. Balakrishnan, Jayalakshmi Mariakuttikan   +9 more
openalex   +1 more source

Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis‐associated aplastic anemia

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Hepatitis‐associated aplastic anemia (HAAA) is described as acute severe hepatitis of unknown origin followed by bone marrow failure (BMF). We aimed to provide a comprehensive picture of pediatric HAAA. Methods Two‐center retrospective analysis was performed using data from children diagnosed with acquired BMF, including severe ...
Daniel Tegtmeyer, Sofia Tsaka, Kai Lehmberg, Michaela Höfs, Jan Beime, Andrea Briem‐Richter, Jun Oh, Elke Lainka, Sebastian Schulz‐Jürgensen   +8 more
wiley   +1 more source

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases. [PDF]

BMC Pregnancy Childbirth
Liu J, He J, Tang W, Chen J, Luo Y, Li H, Li Z, Wu L.   +7 more
europepmc   +1 more source

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

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +1 more source

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

JPGN Reports, EarlyView.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source

Whole-exome sequencing analysis identifies risk genes for schizophrenia. [PDF]

Nat Commun
Chick SL, Holmans P, Cameron D, Grozeva D, Sims R, Williams J, Bray NJ, Owen MJ, O'Donovan MC, Walters JTR, Rees E.   +10 more
europepmc   +1 more source

‘No causative variants found’: an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing [PDF]

P. L. WELLS, Anna Basu, Laura Yates
openalex   +1 more source

Whole-exome sequencing of plasma cell-free DNA portrays the somatic mutation landscape of refractory metastatic colorectal cancer and enables the discovery of mutated KDR /VEGFR2 receptors as modulators of anti-angiogenic therapies [PDF]

, 2017
Rodrigo A. Toledo, Elena Garralda, Maria Mitsi, Tirso Pons, Jorge Monsech, Estela Vega, Álvaro Otero, María I. Albarrán, Natalia Baños, Yolanda Durán, Victoria Bonilla, Francesca Sarno, Marta Camacho‐Artacho, Tania Sánchez‐Pérez, Sofía Perea, Rafael Álvarez, Alba De Martino, Daniel Lietha, Carmen Blanco‐Aparicio, Antonio Cubillo, Orlando Domı́nguez, Jorge L. Martínez‐Torrecuadrada, Manuel Hidalgo   +22 more
openalex   +1 more source