Genotype-phenotype correlation at codon 1740 ofSETD2

Autor: Bernt Popp, Shelby Romoser, Lara Menzies, Stacey A. Bélanger, Alireza Radmanesh, Kimberly A. Aldinger, Jennifer Keller-Ramey, Janice Baker, Jane A. Hurst, William B. Dobyns, Schahram Akbarian, Sébastien Jacquemont, Jan Maarten Cobben, Larissa Kerecuk, Kelly Radtke, Joseph T. Shieh, Khadije Jizi, Ian A. Glass, Patrick Watts, Nicola Foulds, Jerica Lenberg, Sumit Punj, George E. Hoganson, Nancy J. Mendelsohn, Rachel Rabin, Ina Sorge, Katarzyna A. Ellsworth, Katharina Löhner, Manuela Siekmeyer, Jennifer Burton, Leah Dowsett, John A. Bernat, Hannah Bombei, John Pappas, Henny H. Lemmink, Francis H. Sansbury, Ingrid M. Wentzensen, Kirsty McWalter, Deborah Osio, Pamela Trapane, Hermine E. Veenstra-Knol

Publikováno v: American journal of medical genetics. Part A, 182(9), 2037-2048. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 182(9), 2037-2048. Wiley

The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal function

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ac0597bd335d46119f3853d877b511
https://doi.org/10.1002/ajmg.a.61724

ADHD in children and youth: Part 3—Assessment and treatment with comorbid ASD, ID, or prematurity

Autor: Stacey A Bélanger, Brenda Clark

Publikováno v: Paediatrics & Child Health. 23:485-490

Attention-deficit hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder. Three position statements have been developed by the Canadian Paediatric Society, following systematic literature reviews. Statement objectives are to: 1) Summa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57894a6d3d07ad7a76e0465c552a81f
https://doi.org/10.1093/pch/pxy111

Visual disorders with psychostimulants: A paediatric case report

Autor: Stacey A. Bélanger, Jennifer Jean-Louis, Julie Soyer, Niina Kleiber, Jean-François Bussières, Luis H. Ospina

Publikováno v: Paediatr Child Health

Methylphenidate- and amphetamine-based psychostimulants are the most common medications used to treat the symptoms of attention-deficit/hyperactivity disorder in children. Ocular side effects including dry eyes, mydriasis, accommodation disturbance,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc266eef3ae5e8246172e7d2a3a50ae2
https://doi.org/10.1093/pch/pxz012

Evaluation of the child with global developmental delay and intellectual disability

Autor: Joannie Caron, Stacey A Bélanger

Publikováno v: Paediatricschild health. 23(6)

Global developmental delay (GDD) and intellectual disability (ID) are common concerns in the paediatric setting. Etiologies of both conditions are highly heterogeneous. The American Academy of Pediatrics, the American Academy of Neurology and the Bri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9619304b248663d86ed2804ebae6779d
https://pubmed.ncbi.nlm.nih.gov/30919832

Canadian Paediatric Society clinical practice recommendations for children and adolescents with attention-deficit hyperactivity disorder

Autor: Stacey Ageranioti Bélanger

Publikováno v: Paediatricschild health. 23(7)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7db3aa16e9cd9f5b514b607948a14f
https://pubmed.ncbi.nlm.nih.gov/30374216