M. Drechsler

发表

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly

B. Royer-Pokora, T. Goecke, M. Karenfort, 2013, American journal of medical genetics. Part A.

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

S. Schneider, A. Blankenagel, B. Royer-Pokora, 1994, Human Genetics.

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia

B. Royer-Pokora, M. Drechsler, 1996, Human Genetics.

Refined mapping of allele loss at chromosome 10q23‐26 in prostate cancer

T. Visakorpi, W. Schulz, R. Schäfer, 2002, The Prostate.

Fusion of H4/D10S170 to PDGFRβ in a patient with chronic myelomonocytic leukemia and long-term responsiveness to imatinib

U. Germing, B. Royer-Pokora, A. Kündgen, 2007, Annals of Hematology.

Simultaneous occurrence of a t(9;22) (Ph) with a t(2;11) in a patient with CML and emergence of a new clone with the t(2;11) alone after imatinib mesylate treatment

C. Herold, R. Haas, R. Kronenwett, 2003, Leukemia.

Ten novel mutations found in aniridia

B. Lorenz, A. Winterpacht, M. Wolf, 1998, Human mutation.

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

L. Strong, A. Swaroop, H. Meijers-Heijboer, 1991, Cell.

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Karl Sperling, André Reis, E. Schröck, 1994, Nature Genetics.

Genomic structure, alternative transcripts and chromosome location of the human LIM domain binding protein 1 gene LDB1

S. Friedrich, J. Bodem, B. Royer-Pokora, 1999, Cytogenetic and Genome Research.

Promoter 1 of LMO 2 , a master gene for hematopoiesis , is regulated by the erythroid specific transcription factor GATA 1

B. Royer-Pokora, M. Drechsler, M. Pruess, 2022 .

Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH

C. Evers, U. Germing, H. Royer, 2007, Genes, chromosomes & cancer.

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines

K. Köhrer, W. Schulz, M. Skowron, 2019, Scientific Reports.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

D. Wieczorek, J. Altmüller, Yun Li, 2022, Clinical genetics.

A phenotype map for 14q32.3 terminal deletions

A. Hoischen, R. Hennekam, S. Rudnik-Schöneborn, 2012, American journal of medical genetics. Part A.

Characterization of the transcriptional regulatory region of the human WT1 gene.

W. Hofmann, S. Schneider, H. Royer, 1993, Oncogene.

Refined mapping of allele loss at chromosome 10q23‐26 in prostate cancer

T. Visakorpi, W. Schulz, R. Schäfer, 2002, The Prostate.

Localization of the human CD59 gene by fluorescence in situ hybridization and pulsed-field gel electrophoresis.

H. Scherthan, S. Ragg, B. Royer-Pokora, 1993, Cytogenetics and Cell Genetics.

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

L. Strong, A. Swaroop, H. Meijers-Heijboer, 1991, Cell.