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Year Number of Results
2015 1
2016 2
2017 4
2018 4
2019 1
2020 5
2021 6
2022 2
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20 results
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Page 1
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: de bruyne m. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Luxman Maglorius Renkilaraj MR, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Network UD, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: de bruyne m. J Exp Med. 2020 Jun 1;217(7):e2019180405272020c. doi: 10.1084/jem.2019180405272020c. J Exp Med. 2020. PMID: 32516385 Free PMC article. No abstract available.
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E. Ascari G, et al. Among authors: de bruyne m. Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33968938 Free PMC article.
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Strubbe S, De Bruyne M, Pannicke U, Beyls E, Vandekerckhove B, Leclercq G, De Baere E, Bordon V, Vral A, Schwarz K, Haerynck F, Taghon T. Strubbe S, et al. Among authors: de bruyne m. Front Immunol. 2021 Jun 17;12:674226. doi: 10.3389/fimmu.2021.674226. eCollection 2021. Front Immunol. 2021. PMID: 34220820 Free PMC article.
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF.
Hoste L, De Baets F, Van Daele S, Schelstraete P, Boon M, De Bruyne M, Dullaers M, Coppieters F, Haerynck F. Hoste L, et al. Among authors: de bruyne m. Clin Pediatr (Phila). 2018 Jul;57(8):981-985. doi: 10.1177/0009922817733705. Epub 2017 Sep 27. Clin Pediatr (Phila). 2018. PMID: 28952366 No abstract available.
Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19.
Van Damme KFA, Tavernier S, Van Roy N, De Leeuw E, Declercq J, Bosteels C, Maes B, De Bruyne M, Bogaert D, Bosteels V, Hoste L, Naesens L, Maes P, Grifoni A, Weiskopf D, Sette A, Depuydt P, Van Braeckel E, Haerynck F, Lambrecht BN. Van Damme KFA, et al. Among authors: de bruyne m. Front Immunol. 2020 Nov 20;11:596761. doi: 10.3389/fimmu.2020.596761. eCollection 2020. Front Immunol. 2020. PMID: 33329586 Free PMC article.
20 results