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Page 1
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP. Pinto EM, et al. Among authors: kratz cp. HGG Adv. 2024 Jan 11;5(1):100244. doi: 10.1016/j.xhgg.2023.100244. Epub 2023 Oct 4. HGG Adv. 2024. PMID: 37794678 Free PMC article.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Erlacher M, Andresen F, Sukova M, Stary J, De Moerloose B, Bosch JVWT, Dworzak M, Seidel MG, Polychronopoulou S, Beier R, Kratz CP, Nathrath M, Frühwald MC, Göhring G, Bergmann AK, Mayerhofer C, Lebrecht D, Ramamoorthy S, Yoshimi A, Strahm B, Wlodarski MW, Niemeyer CM. Erlacher M, et al. Among authors: kratz cp. Haematologica. 2024 Feb 1;109(2):422-430. doi: 10.3324/haematol.2023.283591. Haematologica. 2024. PMID: 37584291 Free PMC article.
Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.
Wang YM, Kaj-Carbaidwala B, Lane A, Agarwal S, Beier F, Bertuch A, Borovsky KA, Brennan SK, Calado RT, Catto LFB, Dufour C, Ebens CL, Fioredda F, Giri N, Gloude N, Goldman F, Hertel PM, Himes R, Keel SB, Koura DT, Kratz CP, Kulkarni S, Liou I, Nakano TA, Nastasio S, Niewisch MR, Penrice DD, Sasa GS, Savage SA, Simonetto DA, Ziegler DS, Miethke AG, Myers KC; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA). Wang YM, et al. Among authors: kratz cp. Hepatol Commun. 2024 Jun 19;8(7):e0462. doi: 10.1097/HC9.0000000000000462. eCollection 2024 Jul 1. Hepatol Commun. 2024. PMID: 38896081 Free PMC article.
Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome.
Montellier E, Lemonnier N, Penkert J, Freycon C, Blanchet S, Amadou A, Chuffart F, Fischer NW, Achatz MI, Levine AJ, Goudie C, Malkin D, Bougeard G, Kratz CP, Hainaut P. Montellier E, et al. Among authors: kratz cp. iScience. 2024 Nov 1;27(12):111296. doi: 10.1016/j.isci.2024.111296. eCollection 2024 Dec 20. iScience. 2024. PMID: 39634561 Free PMC article.
Update on surveillance guidelines in emerging Wilms tumor predisposition syndromes.
Brzezinski JJ, Becktell KD, Bougeard G, Brodeur GM, Diller LR, Doria AS, Hansford JR, Kohlmann WK, Kratz CP, MacFarland SP, Pajtler KW, Rednam SP, Schienda J, States LJ, Villani A, Weksberg R, Zelley K, Tomlinson GE, Kalish JM. Brzezinski JJ, et al. Among authors: kratz cp. Clin Cancer Res. 2024 Oct 28. doi: 10.1158/1078-0432.CCR-24-2488. Online ahead of print. Clin Cancer Res. 2024. PMID: 39466169
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management.
Colas C, Guerrini-Rousseau L, Suerink M, Gallon R, Kratz CP, Ayuso É; ERN GENTURIS CMMRD Guideline Group; Brugières L, Wimmer K. Colas C, et al. Among authors: kratz cp. Eur J Hum Genet. 2024 Dec;32(12):1526-1541. doi: 10.1038/s41431-024-01708-6. Epub 2024 Oct 17. Eur J Hum Genet. 2024. PMID: 39420201 Free PMC article. Review.
Osteosarcoma as a secondary malignancy following rhabdomyosarcoma: A report of 28 affected patients from the Cooperative Osteosarcoma Study Group (COSS).
Bielack SS, Mettmann V, Hecker-Nolting S, Borkhardt A, Hardes J, Kager L, von Kalle T, Kevric M, Koscielniak E, Kratz CP, Kühne T, Nathrath M, Rossig C, Sorg B, Sparber-Sauer M, Werner M, Blattmann C. Bielack SS, et al. Among authors: kratz cp. Pediatr Blood Cancer. 2024 Dec;71(12):e31344. doi: 10.1002/pbc.31344. Epub 2024 Sep 29. Pediatr Blood Cancer. 2024. PMID: 39344062
176 results