Výsledky vyhledávání - "Sandrine Vaessen"

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Autor: Aimé Lumaka, Corinne Fasquelle, Francois-Guillaume Debray, Serpil Alkan, Adeline Jacquinet, Julie Harvengt, François Boemer, André Mulder, Sandrine Vaessen, Renaud Viellevoye, Leonor Palmeira, Benoit Charloteaux, Anne Brysse, Saskia Bulk, Vincent Rigo, Vincent Bours

Publikováno v: International Journal of Molecular Sciences
Volume 24
Issue 4
Pages: 4003

Rapid Whole Genome Sequencing (rWGS) represents a valuable exploration in critically ill pediatric patients. Early diagnosis allows care to be adjusted. We evaluated the feasibility, turnaround time (TAT), yield, and utility of rWGS in Belgium. Twent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eec707098b14fe394d17bb867c571fd

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Phenotype–Genotype Correlation in Children with Neurofibromatosis Type 1

Autor: Saskia Bulk, Sandrine Vaessen, Julie Harvengt, Christophe Barrea, Jean-Paul Misson

Publikováno v: Neuropediatrics. 49:180-184

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256cca2fe3911055668df0a5b438cd7b
https://doi.org/10.1055/s-0037-1620239

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Horner Syndrome in Children: A Clinical Condition with Serious Underlying Disease

Autor: Tiphaine Vigouroux, Adrianne Milet, Joe Karam, Sandrine Vaessen, Jean-Paul Misson, Christophe Barrea

Publikováno v: Neuropediatrics. 47:268-272

Aim Horner syndrome corresponds to the clinical triad of miosis, ptosis, and facial anhidrosis. These symptoms are related to injury of the oculosympathetic chain. In children, Horner syndrome is classified as congenital or acquired. While the diagno

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d83de2fb8de087f4e91abe3c58a72ed1
https://doi.org/10.1055/s-0036-1584085

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Dystonie de type 12 : un diagnostic rare et difficile

Autor: Patricia Leroy, Sandrine Vaessen, D. Doummar, Jean-Paul Misson, François Meyer

Publikováno v: Archives de Pédiatrie. 24:637-639

Resume Nous presentons le cas d’une dystonie de type 12, appelee aussi syndrome de dystonie-parkinsonisme a debut rapide, survenue chez un jeune garcon de 12 ans. La dystonie de type 12 est un syndrome genetique caracterise par une mutation pathoge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::173c3a316c40a0035daba730c39888a2
https://doi.org/10.1016/j.arcped.2017.04.010

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