Lohmann Dietmar R相关文献与解析，生知库

Barwinski Nicole, Lever Mael, Rating Philipp, Jabbarli Leyla, Fiorentzis Miltiadis, Bechrakis Nikolaos E, Lohmann Dietmar R, Zeschnigk Michael, Le Guin Claudia H D

肿瘤

肿瘤免疫

发表日期：2025

文献求助收藏

Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

作者更正：MYCN驱动的去分化特征可识别侵袭性视网膜母细胞瘤的一个亚群。

期刊:Communications Biology

影响因子:5.1

doi:10.1038/s42003-024-06830-1

Ryl, Tatsiana; Afanasyeva, Elena; Hartmann, Till; Schwermer, Melanie; Schneider, Markus; Schröder, Christopher; Wagemanns, Maren; Bister, Arthur; Kanber, Deniz; Steenpass, Laura; Schramm, Kathrin; Jones, Barbara; Jones, David T W; Biewald, Eva; Astrahantseff, Kathy; Hanenberg, Helmut; Rahmann, Sven; Lohmann, Dietmar R; Schramm, Alexander; Ketteler, Petra

Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy

放射治疗期间葡萄膜黑色素瘤患者血浆中游离肿瘤DNA的释放

期刊:Investigative Ophthalmology & Visual Science

影响因子:4.7

doi:10.1167/iovs.64.13.35

Kim, Viktoria; Guberina, Maja; Bechrakis, Nikolaos E; Lohmann, Dietmar R; Zeschnigk, Michael; Le Guin, Claudia H D

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome

对葡萄膜黑色素瘤和配对的体质DNA进行分析，以排除BAP1肿瘤易感综合征。

期刊:Familial Cancer

影响因子:2

doi:10.1007/s10689-022-00310-3

Abbassi, Yasaman Arjmand; Le Guin, Claudia; Bornfeld, Norbert; Bechrakis, Nikolaos E; Zeschnigk, Michael; Lohmann, Dietmar R

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

RELN基因的单等位基因和双等位基因突变是导致一系列神经发育障碍的根本原因。

期刊:Brain

影响因子:11.7

doi:10.1093/brain/awac164

Di Donato, Nataliya; Guerrini, Renzo; Billington, Charles J; Barkovich, A James; Dinkel, Philine; Freri, Elena; Heide, Michael; Gershon, Elliot S; Gertler, Tracy S; Hopkin, Robert J; Jacob, Suma; Keedy, Sarah K; Kooshavar, Daniz; Lockhart, Paul J; Lohmann, Dietmar R; Mahmoud, Iman G; Parrini, Elena; Schrock, Evelin; Severi, Giulia; Timms, Andrew E; Webster, Richard I; Willis, Mary J H; Zaki, Maha S; Gleeson, Joseph G; Leventer, Richard J; Dobyns, William B

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

引入一种变异分类系统来分析遗传性视网膜母细胞瘤的基因型-表型关系

期刊:Cancers

影响因子:4.4

doi:10.3390/cancers13071605

Hülsenbeck, Isabel; Frank, Mirjam; Biewald, Eva; Kanber, Deniz; Lohmann, Dietmar R; Ketteler, Petra

细胞生物学

发表日期：2021

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Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA

通过分析游离血浆DNA中肿瘤特异性突变，早期发现转移性葡萄膜黑色素瘤

期刊:Cancer Medicine

影响因子:3.1

doi:10.1002/cam4.4153

Le Guin, Claudia H D; Bornfeld, Norbert; Bechrakis, Nikolaos E; Jabbarli, Leyla; Richly, Heike; Lohmann, Dietmar R; Zeschnigk, Michael

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study

葡萄膜黑色素瘤患者预后基因检测的心理社会影响：一项对照前瞻性临床观察研究

期刊:BMC Psychology

影响因子:3

doi:10.1186/s40359-020-0371-3

Lieb, Marietta; Tagay, Sefik; Breidenstein, Anja; Hepp, Tobias; Le Guin, Claudia H D; Scheel, Jennifer; Lohmann, Dietmar R; Bornfeld, Norbert; Teufel, Martin; Erim, Yesim

黑色素瘤

发表日期：2020

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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

辛辛那提型肢端面骨发育不全，是一种伴有肢体畸形的下颌面骨发育不全综合征，由POLR1A功能障碍引起。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2015.03.011

Weaver, K Nicole; Watt, Kristin E Noack; Hufnagel, Robert B; Navajas Acedo, Joaquin; Linscott, Luke L; Sund, Kristen L; Bender, Patricia L; König, Rainer; Lourenco, Charles M; Hehr, Ute; Hopkin, Robert J; Lohmann, Dietmar R; Trainor, Paul A; Wieczorek, Dagmar; Saal, Howard M

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

由 EFTUD2 编码的剪接体 GTP 酶的单倍体功能不全会导致下颌面骨发育不全伴小头畸形

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2011.12.023

Lines, Matthew A; Huang, Lijia; Schwartzentruber, Jeremy; Douglas, Stuart L; Lynch, Danielle C; Beaulieu, Chandree; Guion-Almeida, Maria Leine; Zechi-Ceide, Roseli Maria; Gener, Blanca; Gillessen-Kaesbach, Gabriele; Nava, Caroline; Baujat, Geneviève; Horn, Denise; Kini, Usha; Caliebe, Almuth; Alanay, Yasemin; Utine, Gulen Eda; Lev, Dorit; Kohlhase, Jürgen; Grix, Arthur W; Lohmann, Dietmar R; Hehr, Ute; Böhm, Detlef; Majewski, Jacek; Bulman, Dennis E; Wieczorek, Dagmar; Boycott, Kym M

发育与干细胞

发表日期：2012

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Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanoma.

房水中存在肿瘤DNA与高危葡萄膜黑色素瘤相关

Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma

作者更正：MYCN驱动的去分化特征可识别侵袭性视网膜母细胞瘤的一个亚群。

Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under Radiotherapy

放射治疗期间葡萄膜黑色素瘤患者血浆中游离肿瘤DNA的释放

Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndrome

对葡萄膜黑色素瘤和配对的体质DNA进行分析，以排除BAP1肿瘤易感综合征。

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders

RELN基因的单等位基因和双等位基因突变是导致一系列神经发育障碍的根本原因。

Introduction of a Variant Classification System for Analysis of Genotype-Phenotype Relationships in Heritable Retinoblastoma

引入一种变异分类系统来分析遗传性视网膜母细胞瘤的基因型-表型关系

Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNA

通过分析游离血浆DNA中肿瘤特异性突变，早期发现转移性葡萄膜黑色素瘤

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study

葡萄膜黑色素瘤患者预后基因检测的心理社会影响：一项对照前瞻性临床观察研究

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction

辛辛那提型肢端面骨发育不全，是一种伴有肢体畸形的下颌面骨发育不全综合征，由POLR1A功能障碍引起。

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

由 EFTUD2 编码的剪接体 GTP 酶的单倍体功能不全会导致下颌面骨发育不全伴小头畸形