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Page 1
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S, Dachy G, Seitz G, Agaimy A, Duncan C, Jongmans M, Hirsch S, Kventsel I, Kordes U, de Krijger RR, Metzler M, Michaeli O, Nemes K, Poluha A, Ripperger T, Russo A, Smetsers S, Sparber-Sauer M, Stutz E, Bourdeaut F, Kratz CP, Demoulin JB. Hettmer S, et al. Among authors: bourdeaut f. Fam Cancer. 2021 Oct;20(4):327-336. doi: 10.1007/s10689-020-00204-2. Epub 2020 Sep 5. Fam Cancer. 2021. PMID: 32888134 Free PMC article.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K. Suerink M, et al. Among authors: bourdeaut f. J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415209 Review.
Predisposition to cancer in children and adolescents.
Kratz CP, Jongmans MC, Cavé H, Wimmer K, Behjati S, Guerrini-Rousseau L, Milde T, Pajtler KW, Golmard L, Gauthier-Villars M, Jewell R, Duncan C, Maher ER, Brugieres L, Pritchard-Jones K, Bourdeaut F. Kratz CP, et al. Among authors: bourdeaut f. Lancet Child Adolesc Health. 2021 Feb;5(2):142-154. doi: 10.1016/S2352-4642(20)30275-3. Lancet Child Adolesc Health. 2021. PMID: 33484663 Review.
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
Frühwald MC, Nemes K, Boztug H, Cornips MCA, Evans DG, Farah R, Glentis S, Jorgensen M, Katsibardi K, Hirsch S, Jahnukainen K, Kventsel I, Kerl K, Kratz CP, Pajtler KW, Kordes U, Ridola V, Stutz E, Bourdeaut F. Frühwald MC, et al. Among authors: bourdeaut f. Fam Cancer. 2021 Oct;20(4):305-316. doi: 10.1007/s10689-021-00229-1. Epub 2021 Feb 3. Fam Cancer. 2021. PMID: 33532948 Free PMC article.
SMARCA4-deficient rhabdoid tumours show intermediate molecular features between SMARCB1-deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type.
Andrianteranagna M, Cyrta J, Masliah-Planchon J, Nemes K, Corsia A, Leruste A, Holdhof D, Kordes U, Orbach D, Corradini N, Entz-Werle N, Pierron G, Castex MP, Brouchet A, Weingertner N, Ranchère D, Fréneaux P, Delattre O, Bush J, Leary A, Frühwald MC, Schüller U, Servant N, Bourdeaut F. Andrianteranagna M, et al. Among authors: bourdeaut f. J Pathol. 2021 Sep;255(1):1-15. doi: 10.1002/path.5705. Epub 2021 Jun 23. J Pathol. 2021. PMID: 33999421
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group.
Hol JA, Jewell R, Chowdhury T, Duncan C, Nakata K, Oue T, Gauthier-Villars M, Littooij AS, Kaneko Y, Graf N, Bourdeaut F, van den Heuvel-Eibrink MM, Pritchard-Jones K, Maher ER, Kratz CP, Jongmans MCJ. Hol JA, et al. Among authors: bourdeaut f. Eur J Cancer. 2021 Aug;153:51-63. doi: 10.1016/j.ejca.2021.05.014. Epub 2021 Jun 13. Eur J Cancer. 2021. PMID: 34134020 Free article. Review.
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: bourdeaut f. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.
Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M, Obrecht D, Sill M, Autry RJ, Stutheit-Zhao E, Hirsch S, Amouyal E, Dufour C, Ayrault O, Torrejon J, Waszak SM, Ramaswamy V, Pentikainen V, Demir HA, Clifford SC, Schwalbe EC, Massimi L, Snuderl M, Galbraith K, Karajannis MA, Hill K, Li BK, Walsh M, White CL, Redmond S, Loizos L, Jakob M, Kordes UR, Schmid I, Hauer J, Blattmann C, Filippidou M, Piccolo G, Scheurlen W, Farrag A, Grund K, Sutter C, Pietsch T, Frank S, Schewe DM, Malkin D, Ben-Arush M, Sehested A, Wong TT, Wu KS, Liu YL, Carceller F, Mueller S, Stoller S, Taylor MD, Tabori U, Bouffet E, Kool M, Sahm F, von Deimling A, Korshunov A, von Hoff K, Kratz CP, Sturm D, Jones DTW, Rutkowski S, van Tilburg CM, Witt O, Bougeard G, Pajtler KW, Pfister SM, Bourdeaut F, Milde T. Kolodziejczak AS, et al. Among authors: bourdeaut f. Neuro Oncol. 2023 Dec 8;25(12):2273-2286. doi: 10.1093/neuonc/noad114. Neuro Oncol. 2023. PMID: 37379234 Free PMC article.
Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.
Benesch M, Nemes K, Neumayer P, Hasselblatt M, Timmermann B, Bison B, Ebetsberger-Dachs G, Bourdeaut F, Dufour C, Biassoni V, Morales La Madrid A, Entz-Werle N, Laithier V, Quehenberger F, Weis S, Sumerauer D, Siebert R, Bens S, Schneppenheim R, Kool M, Modena P, Fouyssac F, C Frühwald M. Benesch M, et al. Among authors: bourdeaut f. Pediatr Blood Cancer. 2020 Jan;67(1):e28022. doi: 10.1002/pbc.28022. Epub 2019 Oct 1. Pediatr Blood Cancer. 2020. PMID: 31571386
181 results