Krumbholz M - Search Results

1

Somatic variant profiling in chronic phase pediatric chronic myeloid leukemia.

Behrens YL, Gaschler L, Nienhold R, Reinkens T, Schirmer E, Knöß S, Strasser R, Sembill S, Wotschofsky Z, Suttorp M, Krumbholz M, Schlegelberger B, Metzler M, Göhring G, Karow A. Behrens YL, et al. Among authors: krumbholz m. Haematologica. 2024 Mar 1;109(3):942-947. doi: 10.3324/haematol.2023.283800. Haematologica. 2024. PMID: 37706343 Free PMC article. No abstract available.

2

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

Milenković T, Koehler K, Krumbholz M, Zivanović S, Zdravković D, Huebner A. Milenković T, et al. Among authors: krumbholz m. Eur J Pediatr. 2008 Sep;167(9):1049-55. doi: 10.1007/s00431-007-0640-7. Epub 2008 Jan 3. Eur J Pediatr. 2008. PMID: 18172684

3

Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management.

Salmaggi A, Zirilli L, Pantaleoni C, De Joanna G, Del Sorbo F, Koehler K, Krumbholz M, Huebner A, Rochira V. Salmaggi A, et al. Among authors: krumbholz m. Horm Res. 2008;70(6):364-72. doi: 10.1159/000161867. Epub 2008 Oct 27. Horm Res. 2008. PMID: 18953174 Review.

4

Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.

Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A. Kind B, et al. Among authors: krumbholz m. J Mol Med (Berl). 2010 Dec;88(12):1233-42. doi: 10.1007/s00109-010-0661-y. Epub 2010 Aug 13. J Mol Med (Berl). 2010. PMID: 20706703

5

Triple A syndrome mimicking ALS.

Strauss M, Koehler K, Krumbholz M, Huebner A, Zierz S, Deschauer M. Strauss M, et al. Among authors: krumbholz m. Amyotroph Lateral Scler. 2008 Oct;9(5):315-7. doi: 10.1080/17482960802259016. Amyotroph Lateral Scler. 2008. PMID: 18615337

6

Genomic BCR-ABL1 breakpoints in pediatric chronic myeloid leukemia.

Krumbholz M, Karl M, Tauer JT, Thiede C, Rascher W, Suttorp M, Metzler M. Krumbholz M, et al. Genes Chromosomes Cancer. 2012 Nov;51(11):1045-53. doi: 10.1002/gcc.21989. Epub 2012 Aug 9. Genes Chromosomes Cancer. 2012. PMID: 22887688

7

Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.

Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. Brackmann F, et al. Among authors: krumbholz m. J Pediatr Hematol Oncol. 2013 Oct;35(7):e314-6. doi: 10.1097/MPH.0b013e3182707fa8. J Pediatr Hematol Oncol. 2013. PMID: 23042018

8

Identification of the genomic BCR-ABL1 fusion sequence from blood specimen stored on filter paper.

Karl M, Krumbholz M, Tauer JT, Jacobs U, Metzler M, Suttorp M. Karl M, et al. Among authors: krumbholz m. Leuk Res. 2013 Jan;37(1):117-9. doi: 10.1016/j.leukres.2012.10.007. Epub 2012 Nov 3. Leuk Res. 2013. PMID: 23127356

9

Genomic EWS-FLI1 fusion sequences in Ewing sarcoma resemble breakpoint characteristics of immature lymphoid malignancies.

Berger M, Dirksen U, Braeuninger A, Koehler G, Juergens H, Krumbholz M, Metzler M. Berger M, et al. Among authors: krumbholz m. PLoS One. 2013;8(2):e56408. doi: 10.1371/journal.pone.0056408. Epub 2013 Feb 18. PLoS One. 2013. PMID: 23441188 Free PMC article.

10

DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia.

van der Sligte NE, Krumbholz M, Pastorczak A, Scheijen B, Tauer JT, Nowasz C, Sonneveld E, de Bock GH, Meeuwsen-de Boer TG, van Reijmersdal S, Kuiper RP, Bradtke J, Metzler M, Suttorp M, de Bont ES, van Leeuwen FN. van der Sligte NE, et al. Among authors: krumbholz m. Br J Haematol. 2014 Jul;166(2):250-3. doi: 10.1111/bjh.12850. Epub 2014 Mar 27. Br J Haematol. 2014. PMID: 24673583 Free article.

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