Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="Schrauwen, Isabelle" or (type any "bookEditor journalEditor issueEditor" and editor="Schr...

Add to list
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Allan Thomas Højland, Lisse J. M. Tavernier, Isabelle Schrauwen, Manou Sommen, Vedat Topsakal, Isabelle Schatteman, Ingeborg Dhooge (UGent) , Alex Huber, Diego Zanetti, Henricus P. M. Kunst, et al.

(2022) HUMAN GENETICS. 141. p.951-963
Add to list
Insufficient evidence for a role of SERPINF1 in otosclerosis

Hanne Valgaeren, Manou Sommen, Matthias Beyens, Geert Vandeweyer, Isabelle Schrauwen, Anne Schepers, Isabelle Schatteman, Vedat Topsakal, Ingeborg Dhooge (UGent) , Henricus Kunst, et al.

(2019) MOLECULAR GENETICS AND GENOMICS. 294(4). p.1001-1006
Add to list
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen, Hanne Valgaeren, Laura Tomas-Roca, Manou Sommen, Umut Altunoglu, Mieke Wesdorp, Matthias Beyens, Erik Fransen, Abdul Nasir, Geert Vandeweyer, et al.

(2019) GENETICS IN MEDICINE. 21(5). p.1199-1208
Add to list
DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer (UGent) , Sandra Janssens (UGent) , Kathleen Claes (UGent) , et al.

(2016) HUMAN MUTATION. 37(8). p.812-819
Add to list
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

Isabelle Schrauwen, Manou Sommen, Jason J Corneveaux, Rebecca A Reiman, Nicole J Hackett, Charlotte Claes, Kathleen Claes (UGent) , Maria Bitner-Glindzicz, Paul Coucke (UGent) , Guy Van Camp, et al.

(2013) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 161A(1). p.145-152
Add to list
A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, Friederike Predoehl, Mohammad Amin Tabatabaiefar, Maria Magdalena Picher, Manou Sommen, Celia Zazo Seco, Jaap Oostrik, Hannie Kremer, et al.

(2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(4). p.636-645
Add to list
- Journal Article
- A1
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population

Isabelle Schrauwen, Melissa Thys, Kathleen Vanderstraeten, Erik Fransen, Megan Ealy, Cor WRJ Cremers, Ingeborg Dhooge (UGent) , Paul Van de Heyning, Erwin Offeciers, Richard JH Smith, et al.

(2009) OTOLOGY & NEUROTOLOGY. 30(8). p.1079-1083
Add to list
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

Isabelle Schrauwen, Megan Ealy, Matthew J Huentelman, Melissa Thys, Nils Homer, Kathleen Vanderstraeten, Erik Fransen, Jason J. Corneveaux, David W. Craig, Mireille Claustres, et al.

(2009) AMERICAN JOURNAL OF HUMAN GENETICS. 84(3). p.328-338
Add to list
Association of bone morphogenetic proteins with otosclerosis

Isabelle Schrauwen, Melissa Thys, Kathleen Vanderstraeten, Erik Fransen, Nele Dieltjens, Jeroen Huyghe, Megan Ealy, Mireille Claustres, Cor Cremers, Ingeborg Dhooge (UGent) , et al.

(2008) JOURNAL OF BONE AND MINERAL RESEARCH. 23(4). p.506-517

Academic Bibliography

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Insufficient evidence for a role of SERPINF1 in otosclerosis

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

Association of bone morphogenetic proteins with otosclerosis

Contents

Support

Contact