Paul Coucke

Overview

Best Publications

• A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

  Bart L Loeys;Junji Chen;Enid R Neptune;Daniel P Judge

  1929
  Citations

• Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

  Bart L. Loeys;Bart L. Loeys;Ulrike Schwarze;Tammy Holm;Bert L. Callewaert

  1773
  Citations

• Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

  Joan C. Marini;Antonella Forlino;Antonella Forlino;Wayne A. Cabral;Aileen M. Barnes

  885
  Citations

• Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

  L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  617
  Citations

• Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

  Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer

  514
  Citations

• Mutations in the human |[alpha]|-tectorin gene cause autosomal dominant non-syndromic hearing impairment

  Kristien Verhoeven;Lut Van Laer;Karin Kirschhofer;P Kevin Legan

  469
  Citations

• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

  Edgar A. Otto;Bart Loeys;Hemant Khanna;Jan Hellemans

  464
  Citations

• Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

  Paul J Coucke;Andy Willaert;Marja W Wessels;Bert Callewaert

  427
  Citations

• Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

  Bart Loeys;Lionel Van Maldergem;Geert Mortier;Paul Coucke

  377
  Citations

• Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

  B. L. Loeys;B. L. Loeys;E. E. Gerber;D. Riegert-Johnson;S. Iqbal

  299
  Citations

• Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

  B. Loeys;J. De Backer;P. Van Acker;K. Wettinck

  290
  Citations

• Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

  W. Wuyts;W. Van Hul;J. Wauters;M. Nemtsova

  279
  Citations

• Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

  Ingrid M B H van de Laar;Denise van der Linde;Edwin H G Oei;Pieter K Bos

  274
  Citations

• CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

  E. Fransen;V. Lemmon;G. Van Camp;L. Vits

  263
  Citations

• A COMMON FOUNDER FOR THE 35DELG GJB2 GENE MUTATION IN CONNEXIN 26 HEARING IMPAIRMENT

  L Van Laer;P Coucke;R F Mueller;G Caethoven

  258
  Citations

• Two Frequent Missense Mutations in Pendred Syndrome

  P. van Hauwe;L.A. Everett;P.J. Coucke;D.A. Scott

  244
  Citations

• Mutation Detection in the ABCC6 Gene and Genotype-Phenotype Analysis in a Large International Case Series Affected by Pseudoxanthoma Elasticum

  Ellen G Pfendner;Olivier M Vanakker;Sharon F Terry;Sophia Vourthis

  225
  Citations

• Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

  P.J. Coucke;P. van Hauwe;P.M. Kelley;H.P.M. Kunst

  223
  Citations

• Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

  Olivier M Vanakker;Ludovic Martin;Dealba Gheduzzi;Bart P Leroy

  215
  Citations

• Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families

  B L Callewaert;A Willaert;W S Kerstjens-Frederikse;W S Kerstjens-Frederikse;J De Backer

  214
  Citations