Paul J. Coucke
AuthID: R-00F-NRN
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TITLE: Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. BMP1 MUTATIONS AND SEVERE OSTEOGENESIS IMPERFECTA Full Text
AUTHORS: Delfien Syx; Brecht Guillemyn; Sofie Symoens; Ana Berta Sousa; Ana Medeira; Margo Whiteford; Trinh Hermanns Le; Paul J Coucke; Anne De Paepe; Fransiska Malfait;
PUBLISHED: 2015, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 30, ISSUE: 8
AUTHORS: Delfien Syx; Brecht Guillemyn; Sofie Symoens; Ana Berta Sousa; Ana Medeira; Margo Whiteford; Trinh Hermanns Le; Paul J Coucke; Anne De Paepe; Fransiska Malfait;
PUBLISHED: 2015, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 30, ISSUE: 8
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TITLE: Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa Full Text
AUTHORS: Bert Callewaert; Chi Ting Su; Tim Van Damme; Philip Vlummens; Fransiska Malfait; Olivier Vanakker; Bianca Schulz; Meghan Mac Neal; Elaine C Davis; Joseph G H Lee; Aicha Salhi; Sheila Unger; Ketil Heimdal; Salome De Almeida; Uwe Kornak; Harald Gaspar; Jean Luc Bresson; Katrina Prescott; Maria E Gosendi; Sahar Mansour; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 1
AUTHORS: Bert Callewaert; Chi Ting Su; Tim Van Damme; Philip Vlummens; Fransiska Malfait; Olivier Vanakker; Bianca Schulz; Meghan Mac Neal; Elaine C Davis; Joseph G H Lee; Aicha Salhi; Sheila Unger; Ketil Heimdal; Salome De Almeida; Uwe Kornak; Harald Gaspar; Jean Luc Bresson; Katrina Prescott; Maria E Gosendi; Sahar Mansour; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 1
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TITLE: Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGF beta signaling in FTAAD Full Text
AUTHORS: Marjolijn Renard; Bert Callewaert; Machteld Baetens; Laurence Campens; Kay MacDermot; Jean Pierre Fryns; Maryse Bonduelle; Harry C Dietz; Isabel Mendes Gaspar; Diogo Cavaco; Eva Lena Stattin; Constance Schrander Stumpel; Paul Coucke; Bart Loeys; Anne De Paepe; Julie De Backer;
PUBLISHED: 2013, SOURCE: INTERNATIONAL JOURNAL OF CARDIOLOGY, VOLUME: 165, ISSUE: 2
AUTHORS: Marjolijn Renard; Bert Callewaert; Machteld Baetens; Laurence Campens; Kay MacDermot; Jean Pierre Fryns; Maryse Bonduelle; Harry C Dietz; Isabel Mendes Gaspar; Diogo Cavaco; Eva Lena Stattin; Constance Schrander Stumpel; Paul Coucke; Bart Loeys; Anne De Paepe; Julie De Backer;
PUBLISHED: 2013, SOURCE: INTERNATIONAL JOURNAL OF CARDIOLOGY, VOLUME: 165, ISSUE: 2
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TITLE: New Insights into the Pathogenesis of Autosomal-Dominant Cutis Laxa with Report of Five ELN Mutations Full Text
AUTHORS: Bert Callewaert; Marjolijn Renard; Vishwanathan Hucthagowder; Beate Albrecht; Ingrid Hausser; Edward Blair; Cristina Dias; Alice Albino; Hiroshi Wachi; Fumiaki Sato; Robert P Mecham; Bart Loeys; Paul J Coucke; Anne De Paepe; Zsolt Urban;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 4
AUTHORS: Bert Callewaert; Marjolijn Renard; Vishwanathan Hucthagowder; Beate Albrecht; Ingrid Hausser; Edward Blair; Cristina Dias; Alice Albino; Hiroshi Wachi; Fumiaki Sato; Robert P Mecham; Bart Loeys; Paul J Coucke; Anne De Paepe; Zsolt Urban;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 4
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TITLE: Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes Full Text
AUTHORS: Frauke Coppieters; Ingele Casteels; Francoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valerie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; Heidi Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 10
AUTHORS: Frauke Coppieters; Ingele Casteels; Francoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valerie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; Heidi Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 10
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TITLE: Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
AUTHORS: Malfait, F; Symoens, S; Coucke, P; Nunes, L; De Almeida, S; De Paepe, A;
PUBLISHED: 2006, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 43, ISSUE: 7
AUTHORS: Malfait, F; Symoens, S; Coucke, P; Nunes, L; De Almeida, S; De Paepe, A;
PUBLISHED: 2006, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 43, ISSUE: 7
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