Publications by authors named "Bernhard Zabel"

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Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.
Alzbeta Chabronova, Guus G H van den Akker, Mandy M F Meekels-Steinbusch, Franziska Friedrich, Andy Cremers, Bernhard Zabel

Noncoding RNA Res· December 2021

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Shahida Moosa, Guilherme L Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, Bernhard Zabel

Am J Hum Genet· October 2019

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The antiviral protein viperin regulates chondrogenic differentiation via CXCL10 protein secretion.
Mandy M F Steinbusch, Marjolein M J Caron, Don A M Surtel, Guus G H van den Akker, Paul J van Dijk, Bernhard Zabel

J Biol Chem· March 2019

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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Anika Wehrle, Tomasz M Witkos, Sheila Unger, Judith Schneider, John A Follit, Bernhard Zabel

JCI Insight· February 2019

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Guiding Registry for Skeletal Dysplasia. Rational Approach in Classification.
Bernhard Zabel, Jürgen Spranger

Pediatr Endocrinol Rev· November 2017

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Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation.
Mandy M F Steinbusch, Marjolein M J Caron, Don A M Surtel, Franziska Friedrich, Ekkehart Lausch, Bernhard Zabel

Sci Rep· July 2017

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Karim Kouz, Christina Lissewski, Stephanie Spranger, Diana Mitter, Angelika Riess, Bernhard Zabel

Genet Med· December 2016

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Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.
Florian Bohne, David Langer, Ursula Martiné, Claudia S Eider, Regina Cencic, Bernhard Ulrich Zabel

Clin Epigenetics· December 2016

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Against all odds: blended phenotypes of three single-gene defects.
Yong Li, Anika Salfelder, Karl Otfried Schwab, Sarah Catharina Grünert, Tanja Velten, Bernhard Zabel

Eur J Hum Genet· August 2016

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What is new in genetics and osteogenesis imperfecta classification?
Eugênia R Valadares, Túlio B Carneiro, Paula M Santos, Ana Cristina Oliveira, Bernhard Zabel

J Pediatr (Rio J)· October 2015

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Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Thorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, Dagmar Quandt, Renate Buchen, Bernhard Zabel

Hum Mol Genet· June 2015

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C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.
Robert C Olney, Timothy C R Prickett, Eric A Espiner, William G Mackenzie, Angela L Duker, Bernhard Zabel

J Clin Endocrinol Metab· February 2015

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Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Melanie Grosch, Barbara Grüner, Stephanie Spranger, Adrian M Stütz, Tobias Rausch, Bernhard Zabel

Matrix Biol· July 2014

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Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease.
Corinna Grasemann, Michael M Schündeln, Matthias Hövel, Bernd Schweiger, Christoph Bergmann, Bernhard Zabel

J Clin Endocrinol Metab· August 2013

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Clinical Utility Gene Card for: campomelic dysplasia.
Gerd Scherer, Bernhard Zabel, Gen Nishimura

Eur J Hum Genet· July 2013

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FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Sheila Unger, Maria W Górna, Antony Le Béchec, Sonia Do Vale-Pereira, Maria Francesca Bedeschi, Bernhard Zabel

Am J Hum Genet· June 2013

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Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.
Inga Freunscht, Bernt Popp, Rainer Blank, Sabine Endele, Ute Moog, Bernhard Zabel

Behav Brain Funct· May 2013

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Mutations in WNT1 cause different forms of bone fragility.
Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M Barnes, Magdalena Steiner, Bernhard Zabel

Am J Hum Genet· April 2013

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The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Nuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, Cynthia F Bartels, Beyhan Tuysuz, Bernhard Zabel

Am J Med Genet C Semin Med Genet· August 2012

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TRPV4-associated skeletal dysplasias.
Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel

Am J Med Genet C Semin Med Genet· August 2012

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TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients.
Tae-Joon Cho, Kazu Matsumoto, Virginia Fano, Jin Dai, Ok-Hwa Kim, Bernhard Zabel

Am J Med Genet A· April 2012

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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel

Hum Mutat· January 2012

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Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Sheila Unger, Ekkehart Lausch, Franco Stanzial, Gabriele Gillessen-Kaesbach, Irina Stefanova, Bernhard Zabel

Am J Med Genet A· November 2011

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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Carine Le Goff, Clémentine Mahaut, Lauren W Wang, Slimane Allali, Avinash Abhyankar, Bernhard Zabel

Am J Hum Genet· July 2011

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Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Lisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, Ana Belinda Campos-Xavier, Christian Gilissen, Bernhard Zabel

Am J Hum Genet· May 2011

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