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Liquid Biopsies

(federführend) Prof. Dr. med. Ute Felbor, Greifswald Prof. Dr. med. Christian Netzer, Köln Prof. Dr. med. Reiner Siebert, Kiel Prof. Dr. med. Dagmar Wieczorek, Düsseldorf 5 Institut für Humangenetik

Two years� experience with denosumab for children with Osteogenesis imperfecta type VI

Background Osteogenesis imperfecta (OI) is a hereditary disease causing reduced bone mass, increased fracture rate, long bone deformities and vertebral compressions. Additional non skeletal findings are caused by impaired collagen function and include hyperlaxity of joints and blue sclera. Most OI cases are caused by dominant mutations in COL1A1/2 affecting bone formation. During...

Reply: Non-invasive prenatal diagnosis: an ethical imperative

, Germany 1 Christian Netzer is at the Institute of Human Genetics, University Hospital Köln , Kerpener Street 34, 50931 Köln , Germany 2 Dagmar Schmitz is at the Institute for History, Theory and Ethics in

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

John B. Moeschler Christian Netzer Charlotte W. Ockeloen 3 Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N. M. Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P

Analysis of Compound Synergy in High-Throughput Cellular Screens by Population-Based Lifetime Modeling

Despite the successful introduction of potent anti-cancer therapeutics, most of these drugs lead to only modest tumor-shrinkage or transient responses, followed by re-growth of tumors. Combining different compounds has resulted in enhanced tumor control and prolonged survival. However, methods querying the efficacy of such combinations have been hampered by limited scalability...

SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

The Townes–Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Mutations in SALL1, a gene mapping to 16q12.1, were identified as a cause for TBS. To elucidate how SALL1 mutations lead to TBS, we have performed a...