Results 171 to 180 of about 118,150 (263)

Detection of Chromosomal Aneuploidy Using Exome Sequencing. [PDF]

Genes (Basel)
Al-Hamed MH, Maddirevula S, Moghrabi N, Aldahmesh MA, Alfalah AH, Khouj E, Altuwaijri N, Alhossiny M, Imtiaz F, Alfares A.   +9 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 in pediatric patients with glomerulonephritis. [PDF]

Front Genet
Peric M, Brankovic M, Stajic N, Putnik J, Paripovic A, Jankovic M, Nikolic D, Milanovic F, Novakovic I, Vukomanovic V.   +9 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

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling. [PDF]

J Genet Couns
Albert S, Swenerton A, Niles KM, Langlois S, Zambonin JL.   +4 more
europepmc   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]

PLoS One
Dev P, Blackwell JM, Kumar R, Mishra V, Pathak A.   +4 more
europepmc   +1 more source