Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review

Autor: Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff, Julie Harvengt

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

Abstract Background Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of clinical recommendatio

Externí odkaz: https://doaj.org/article/39d78c0919794538b2152385aa3f8bc7

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, Vol 24, Iss 4, p 4003 (2023)

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://doaj.org/article/8a0dae43feb44b0b9eb680a62995f7d0

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Autor: Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 223-231 (2014)

A 1-year-old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was co

Externí odkaz: https://doaj.org/article/fd556b0c77d94429ba45fcb9552d5c29

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Autor: Yanick J. Crow, Dorit Lev, Evangeline Wassmer, Adeline Vanderver, Diedre A Kelly, Annette Bley, Jonas Denecke, Sameer M. Zuberi, Despina Eleftheriou, Callum Wilson, Julie Harvengt, François-Guillaume Debray, Laura Adang, Veronica Saletti, Diane Doummar, Simona Orcesi, Bernt Popp, Fanny Mochel, Ayelet Zerem, Margherita Estienne, Arnaud Wiedemann, Itxaso Marti, Cia Sharpe, Tracy A Briggs, Sehoon Park, Stefan Berg, Lien Van Eyck, Alexandre Belot, Thierry Billette de Villemeur, John H. Livingston, Elisa Fazzi, Marie-Christine Nougues, Lubov Blumkin, Miguel Tomas Vila, Christiane Zweier, Francesco Gavazzi, Odile Boespflug-Tanguy, Gunilla Drake Af Hagelsrum, François Feillet, Niklas Darin, Luis Seabra, Davide Tonduti, Bénédicte Héron, Elise Brimble, Roberta Battini, Keith Van Haren, Christophe Barrea, Mathieu P Rodero, Belén Pérez-Dueñas, Gayatri Vadlamani, Ilena Oppermann, Diana Rodriguez, Julie Vogt, Virginie Levrat, Russell C. Dale, Delphine Héron, Gillian I. Rice, Jessica Galli, Sun Hur, Nicholas L. Hartog, Cyril Mignot, Valentina De Giorgis, Loveline A Ayuk

Publikováno v: Human Mutation
Rice, G I, Park, S, Gavazzi, F, Adang, L A, Ayuk, L A, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, Billette de Villemeur, T, Bley, A E, Blumkin, L, Boespflug-Tanguy, O, Briggs, T A, Brimble, E, Dale, R C, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, Drake Af Hagelsrum, G, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, D A, Lev, D, Levrat, V, Livingston, J H, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Pérez-Dueñas, B, Popp, B, Rodero, M P, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Tomas Vila, M, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, C J, Zerem, A, Zweier, C, Zuberi, S M, Orcesi, S, Vanderver, A L, Hur, S & Crow, Y J 2020, ' Genetic and phenotypic spectrum associated with IFIH1 gain-of-function ', Human Mutation . https://doi.org/10.1002/humu.23975
Human mutation
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Human Mutation, Wiley, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩
Addi. Archivo Digital para la Docencia y la Investigación
instname
Human Mutation, 2020, 41 (4), pp.837-849. ⟨10.1002/HUMU.23975⟩

IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining patients through a European and N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63aaaf082ad29df3f7f1b2a21ebc4b9b

ROHHAD(NET) Syndrome: Systematic Review of the Clinical Timeline and Recommendations for Diagnosis and Prognosis

Autor: Marie-Christine Lebrethon, Marie-Christine Seghaye, Bours, Julie Harvengt, Meriem Mastouri, Gernay C, Nesrine Farhat

Publikováno v: The Journal of clinical endocrinology and metabolism. 105(7)

Context Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79efb0b492faec58e7a0b5029445eaaa
https://pubmed.ncbi.nlm.nih.gov/32407531