Boehm D - Search Results

1

Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay.

Boehm D, Bacher J, Neumann HP. Boehm D, et al. Am J Kidney Dis. 2007 Jan;49(1):e11-21. doi: 10.1053/j.ajkd.2006.10.024. Am J Kidney Dis. 2007. PMID: 17185137

2

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfäffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP; European-American Phaeochromocytoma Registry Study Group. Bausch B, et al. Among authors: boehm d. J Clin Endocrinol Metab. 2007 Jul;92(7):2784-92. doi: 10.1210/jc.2006-2833. Epub 2007 Apr 10. J Clin Endocrinol Metab. 2007. PMID: 17426081

3

Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye.

Boehm D, Herold S, Kuechler A, Liehr T, Laccone F. Boehm D, et al. Hum Mutat. 2004 Apr;23(4):368-78. doi: 10.1002/humu.20011. Hum Mutat. 2004. PMID: 15024731

4

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Mühlendyck H, Winter R, Giray O, Silan F, Kohlhase J. Borozdin W, et al. Among authors: boehm d. J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901. J Med Genet. 2004. PMID: 15342710 Free PMC article. No abstract available.

5

Prenatal diagnosis of a large de novo terminal deletion of chromosome 11q.

Boehm D, Laccone F, Burfeind P, Herold S, Schubert C, Zoll B, Männer J, Pauer HU, Bartels I. Boehm D, et al. Prenat Diagn. 2006 Mar;26(3):286-90. doi: 10.1002/pd.1408. Prenat Diagn. 2006. PMID: 16506277

6

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation.

Auber B, Bruemmer V, Zoll B, Burfeind P, Boehm D, Liehr T, Brockmann K, Wilichowski E, Argyriou L, Bartels I. Auber B, et al. Among authors: boehm d. Mol Cytogenet. 2009 Mar 12;2:10. doi: 10.1186/1755-8166-2-10. Mol Cytogenet. 2009. PMID: 19284615 Free PMC article.

7

Targeted disruption of the mouse Npal3 gene leads to deficits in behavior, increased IgE levels, and impaired lung function.

Grzmil P, Konietzko J, Boehm D, Hölter SM, Aguilar-Pimentel A, Javaheri A, Kalaydjiev S, Adler T, Bolle I, Adham I, Dixkens C, Wolf S, Fuchs H, Gailus-Durner V, Wurst W, Ollert M, Busch DH, Schulz H, de Angelis MH, Burfeind P. Grzmil P, et al. Among authors: boehm d. Cytogenet Genome Res. 2009;125(3):186-200. doi: 10.1159/000230003. Epub 2009 Sep 4. Cytogenet Genome Res. 2009. PMID: 19738379

8

Application of Multi-Criteria Decision Analysis (MCDA) to Prioritize Real-World Evidence Studies for Health Technology Management: Outcomes and Lessons Learned by the Canadian Real-World Evidence for Value of Cancer Drugs (CanREValue) Collaboration.

Takhar P, Geirnaert M, Gavura S, Beca J, Mercer RE, Denburg A, Muñoz C, Tadrous M, Parmar A, Dionne F, Boehm D, Chambers C, Craig E, Trudeau M, Cheung MC, Houlihan J, McDonald V, Pechlivanoglou P, Taylor M, Wasylenko E, Wranik WD, Chan KKW. Takhar P, et al. Among authors: boehm d. Curr Oncol. 2024 Apr 1;31(4):1876-1898. doi: 10.3390/curroncol31040141. Curr Oncol. 2024. PMID: 38668044 Free PMC article.

9

Data Visualization Support for Tumor Boards and Clinical Oncology: Protocol for a Scoping Review.

Boehm D, Strantz C, Christoph J, Busch H, Ganslandt T, Unberath P. Boehm D, et al. JMIR Res Protoc. 2024 Mar 5;13:e53627. doi: 10.2196/53627. JMIR Res Protoc. 2024. PMID: 38441925 Free PMC article.

10

Extending cBioPortal for Therapy Recommendation Documentation in Molecular Tumor Boards: Development and Usability Study.

Renner C, Reimer N, Christoph J, Busch H, Metzger P, Boerries M, Ustjanzew A, Boehm D, Unberath P. Renner C, et al. Among authors: boehm d. JMIR Med Inform. 2023 Dec 11;11:e50017. doi: 10.2196/50017. JMIR Med Inform. 2023. PMID: 38079196 Free PMC article.

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