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95 results

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Page 1
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: jongmans mc. 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.
Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.
Perrino MR, Das A, Scollon SR, Mitchell SG, Greer MC, Yohe ME, Hansford JR, Kalish JM, Schultz KAP, MacFarland SP, Kohlmann WK, Lupo PJ, Maxwell KN, Pfister SM, Weksberg R, Michaeli O, Jongmans MCJ, Tomlinson GE, Brzezinski J, Tabori U, Ney GM, Gripp KW, Gross AM, Widemann BC, Stewart DR, Woodward ER, Kratz CP. Perrino MR, et al. Among authors: jongmans mcj. Clin Cancer Res. 2024 Nov 1;30(21):4834-4843. doi: 10.1158/1078-0432.CCR-24-1611. Clin Cancer Res. 2024. PMID: 39196581 Review.
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Diets IJ, et al. Among authors: jongmans mcj. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929739 Free PMC article.
TRIM28 variants and Wilms' tumour predisposition.
Hol JA, Diets IJ, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MC, Kuiper RP. Hol JA, et al. Among authors: jongmans mc. J Pathol. 2021 Jul;254(4):494-504. doi: 10.1002/path.5639. Epub 2021 Mar 15. J Pathol. 2021. PMID: 33565090 Free PMC article. Review.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. Ebstein F, et al. Among authors: jongmans mcj. Sci Transl Med. 2023 May 31;15(698):eabo3189. doi: 10.1126/scitranslmed.abo3189. Epub 2023 May 31. Sci Transl Med. 2023. PMID: 37256937 Free PMC article.
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.
Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, Plon SE, Tabori U. Das A, et al. Among authors: jongmans mcj. Clin Cancer Res. 2024 Aug 15;30(16):3378-3387. doi: 10.1158/1078-0432.CCR-23-3994. Clin Cancer Res. 2024. PMID: 38860976 Review.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N, Haghshenas S, van der Laan L, Russel PKM, Rooney K, Levy MA, Relator R, Kerkhof J, McConkey H, Maas SM, Vissers LELM, de Vries BBA, Pfundt R, Elting MW, van Hagen JM, Verbeek NE, Jongmans MCJ, Lakeman P, Rumping L, Bosch DGM, Vitobello A, Thauvin-Robinet C, Faivre L, Nambot S, Garde A, Willems M, Genevieve D, Nicolas G, Busa T, Toutain A, Gérard M, Bizaoui V, Isidor B, Merla G, Accadia M, Schwartz CE, Ounap K, Hoffer MJV, Nezarati MM, van den Boogaard MH, Tedder ML, Rogers C, Brusco A, Ferrero GB, Spodenkiewicz M, Sidlow R, Mussa A, Trajkova S, McCann E, Mroczkowski HJ, Jansen S, Donker-Kaat L, Duijkers FAM, Stuurman KE, Mannens MMAM, Alders M, Henneman P, White SM, Sadikovic B, van Haelst MM. Vos N, et al. Among authors: jongmans mcj. Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24. Hum Genet. 2024. PMID: 38787418 Free PMC article.
Paediatric metanephric tumours: a clinicopathological and molecular characterisation.
de Jel DVC, Hol JA, Ooms AHAG, de Krijger RR, Jongmans MCJ, Littooij AS, Drost J, van Grotel M, van den Heuvel-Eibrink MM. de Jel DVC, et al. Among authors: jongmans mcj. Crit Rev Oncol Hematol. 2020 Jun;150:102970. doi: 10.1016/j.critrevonc.2020.102970. Epub 2020 Apr 24. Crit Rev Oncol Hematol. 2020. PMID: 32371339 Free article. Review.
95 results