Results 291 to 300 of about 1,021,105 (352)

Whole exome sequencing [PDF]

, 2014
Bou De Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
core  

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

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

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

Unlocking Genetic Clues: Exome Sequencing in Adult Epilepsy. [PDF]

Neurol Genet
Riva A, Striano P.
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 in Japanese spinocerebellar ataxia identifies novel variants. [PDF]

J Hum Genet
Watanabe T, Kume K, Inoue K, Nakamura M, Yamamoto S, Kurashige T, Ohshita T, Tazuma T, Kaido M, Maetani Y, Maruyama H, Kawakami H.   +11 more
europepmc   +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

Whole-Exome Sequencing of Discordant Monozygotic Twins for Congenital Scoliosis: A Family Case Study. [PDF]

Genes (Basel)
Samarkhanova D, Seidualy M, Kairov U, Nadirov N, Zhabagin M.   +4 more
europepmc   +1 more source

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

JPGN Reports, EarlyView.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski, Gary Galante, Kiera Pajunen, Marie‐Anne Brundler, Samarjeet Bhandal, Iwona Wrobel   +5 more
wiley   +1 more source