OpenURL Connection Search

Select item for more details and to access through your institution.

Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.
Published in:
2014
By:
- Rajeshkannan, Ramiah;
- Kulkarni, Chinmay;
- Kappanayil, Mahesh;
- Nampoothiri, Sheela;
- Malfait, Fransiska;
- De Paepe, Anne;
- Moorthy, Srikanth
Publication type:
journal article
Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues.
Published in:
Scientifica, 2012, p. 1, doi. 10.6064/2012/598262
By:
- Hosen, Mohammad J.;
- Lamoen, Anouck;
- De Paepe, Anne;
- Vanakker, Olivier M.
Publication type:
Article
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
Published in:
2004
By:
- Revencu, Nicole;
- Quenum, Geneviève;
- Verellen-Dumoulin, Christine;
- Detaille, Thierry;
- Verellen, Gaston;
- De Paepe, Anne;
- Quenum, Geneviève
Publication type:
journal article
A Miniaturized Extruder to Prototype Amorphous Solid Dispersions: Selection of Plasticizers for Hot Melt Extrusion.
Published in:
Pharmaceutics, 2018, v. 10, n. 2, p. 58, doi. 10.3390/pharmaceutics10020058
By:
- Lauer, Matthias E.;
- Maurer, Reto;
- De Paepe, Anne T.;
- Stillhart, Cordula;
- Jacob, Laurence;
- James, Rajesh;
- Kojima, Yuki;
- Rietmann, Rene;
- Kissling, Tom;
- Van Den Ende, Joost A.;
- Schwarz, Sabine;
- Grassmann, Olaf;
- Page, Susanne
Publication type:
Article
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0221-6
By:
- Campens, Laurence;
- Callewaert, Bert;
- Mosquera, Laura Muiño;
- Renard, Marjolijn;
- Symoens, Sofie;
- De Paepe, Anne;
- Coucke, Paul;
- De Backer, Julie
Publication type:
Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-66
By:
- Hosen, Mohammad J.;
- Coucke, Paul J.;
- Le Saux, Olivier;
- De Paepe, Anne;
- Vanakker, Olivier M.
Publication type:
Article
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.
Published in:
2014
By:
- Hosen, Mohammad J;
- Coucke, Paul J;
- Le Saux, Olivier;
- De Paepe, Anne;
- Vanakker, Olivier M
Publication type:
journal article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-154
By:
- Symoens, Sofie;
- Malfait, Fransiska;
- D'hondt, Sanne;
- Callewaert, Bert;
- Dheedene, Annelies;
- Steyaert, Wouter;
- Bächinger, Hans Peter;
- De Paepe, Anne;
- Kayserili, Hulya;
- Coucke, Paul J.
Publication type:
Article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-78
By:
- Malfait, Fransiska;
- Symoens, Sofie;
- Goemans, Nathalie;
- Gyftodimou, Yolanda;
- Holmberg, Eva;
- López-González, Vanesa;
- Mortier, Geert;
- Nampoothiri, Sheela;
- Petersen, Michael Bjorn;
- Paepe, Anne De
Publication type:
Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-36
By:
- Hadj-Rabia, Smail;
- Callewaert, Bert L.;
- Bourrat, Emmanuelle;
- Kempers, Marlies;
- Plomp, Astrid S.;
- Layet, Valerie;
- Bartholdi, Deborah;
- Renard, Marjolijn;
- Backer, Julie De;
- Malfait, Fransiska;
- Vanakker, Olivier M.;
- Coucke, Paul J.;
- De Paepe, Anne M.;
- Bodemer, Christine
Publication type:
Article
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Published in:
2013
By:
- Hadj-Rabia, Smail;
- Callewaert, Bert L;
- Bourrat, Emmanuelle;
- Kempers, Marlies;
- Plomp, Astrid S;
- Layet, Valerie;
- Bartholdi, Deborah;
- Renard, Marjolijn;
- Backer, Julie De;
- Malfait, Fransiska;
- Vanakker, Olivier M;
- Coucke, Paul J;
- De Paepe, Anne M;
- Bodemer, Christine;
- De Backer, Julie
Publication type:
journal article
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Published in:
2013
By:
- Malfait, Fransiska;
- Symoens, Sofie;
- Goemans, Nathalie;
- Gyftodimou, Yolanda;
- Holmberg, Eva;
- López-González, Vanesa;
- Mortier, Geert;
- Nampoothiri, Sheela;
- Petersen, Michael Bjorn;
- De Paepe, Anne
Publication type:
journal article
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.
Published in:
2013
By:
- Symoens, Sofie;
- Malfait, Fransiska;
- D'hondt, Sanne;
- Callewaert, Bert;
- Dheedene, Annelies;
- Steyaert, Wouter;
- Bächinger, Hans Peter;
- De Paepe, Anne;
- Kayserili, Hulya;
- Coucke, Paul J
Publication type:
journal article
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-61
By:
- Kappanayil, Mahesh;
- Nampoothiri, Sheela;
- Kannan, Rajesh;
- Renard, Marjolijn;
- Coucke, Paul;
- Malfait, Fransiska;
- Menon, Swapna;
- Ravindran, Hiran K.;
- Kurup, Renu;
- Faiyaz-Ul-Haque, Muhammad;
- Kumar, Krishna;
- De Paepe, Anne
Publication type:
Article
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Published in:
2012
By:
- Kappanayil, Mahesh;
- Nampoothiri, Sheela;
- Kannan, Rajesh;
- Renard, Marjolijn;
- Coucke, Paul;
- Malfait, Fransiska;
- Menon, Swapna;
- Ravindran, Hiran K;
- Kurup, Renu;
- Faiyaz-Ul-Haque, Muhammad;
- Kumar, Krishna;
- De Paepe, Anne
Publication type:
journal article
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Published in:
2011
By:
- Swinnen, Freya K R;
- Coucke, Paul J;
- De Paepe, Anne M;
- Symoens, Sofie;
- Malfait, Fransiska;
- Gentile, Filomena V;
- Sangiorgi, Luca;
- D'Eufemia, Patrizia;
- Celli, Mauro;
- Garretsen, Ton J T M;
- Cremers, Cor W R J;
- Dhooge, Ingeborg J M;
- De Leenheer, Els M R
Publication type:
journal article
Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G.
Published in:
Disease Markers, 1999, v. 15, n. 1-3, p. 69, doi. 10.1155/1999/241046
By:
- Claes, Kathleen;
- Machackova, Eva;
- De Vos, Michel;
- Poppe, Bruce;
- De Paepe, Anne;
- Messiaen, Ludwine
Publication type:
Article
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.
Published in:
Journal of Human Genetics, 2010, v. 55, n. 2, p. 112, doi. 10.1038/jhg.2009.132
By:
- Costrop, Laura M. F.;
- Vanakker, Olivier O. M.;
- Van Laer, Lut;
- Le Saux, Olivier;
- Martin, Ludovic;
- Chassaing, Nicolas;
- Guerra, Deanna;
- Ronchetti, Ivonne Pasquali-;
- Coucke, Paul J.;
- De Paepe, Anne
Publication type:
Article
The microRNA body map: dissecting microRNA function through integrative genomics.
Published in:
Nucleic Acids Research, 2011, v. 39, n. 20, p. e136, doi. 10.1093/nar/gkr646
By:
- Mestdagh, Pieter;
- Lefever, Steve;
- Pattyn, Filip;
- Ridzon, Dana;
- Fredlund, Erik;
- Fieuw, Annelies;
- Ongenaert, Maté;
- Vermeulen, Joëlle;
- De Paepe, Anne;
- Wong, Linda;
- Speleman, Frank;
- Chen, Caifu;
- Vandesompele, Jo
Publication type:
Article
The 2017 international classification of the Ehlers-Danlos syndromes.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 1, p. 8, doi. 10.1002/ajmg.c.31552
By:
- Malfait, Fransiska;
- Francomano, Clair;
- Byers, Peter;
- Belmont, John;
- Berglund, Britta;
- Black, James;
- Bloom, Lara;
- Bowen, Jessica M.;
- Brady, Angela F.;
- Burrows, Nigel P.;
- Castori, Marco;
- Cohen, Helen;
- Colombi, Marina;
- Demirdas, Serwet;
- De Backer, Julie;
- De Paepe, Anne;
- Fournel‐Gigleux, Sylvie;
- Frank, Michael;
- Ghali, Neeti;
- Giunta, Cecilia
Publication type:
Article
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 76, doi. 10.1002/ajmg.c.31434
By:
- Rombaut, Lies;
- Deane, Janet;
- Simmonds, Jane;
- De Wandele, Inge;
- De Paepe, Anne;
- Malfait, Fransiska;
- Calders, Patrick
Publication type:
Article
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1047, doi. 10.1002/ajmg.a.38135
By:
- Symoens, Sofie;
- Steyaert, Wouter;
- Demuynck, Lynn;
- De Paepe, Anne;
- Diderich, Karin E. M.;
- Malfait, Fransiska;
- Coucke, Paul J.
Publication type:
Article
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2317, doi. 10.1002/ajmg.a.36668
By:
- Nampoothiri, Sheela;
- Yesodharan, Dhanya;
- Sainulabdin, Gazel;
- Narayanan, Dhanyalakshmi;
- Padmanabhan, Laxmi;
- Girisha, Katta Mohan;
- Cathey, Sara S.;
- De Paepe, Anne;
- Malfait, Fransiska;
- Syx, Delfien;
- Hennekam, Raoul C.;
- Bonafe, Luisa;
- Unger, Sheila;
- Superti‐Furga, Andrea
Publication type:
Article
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 620, doi. 10.1002/ajmg.a.36321
By:
- Oehl‐Jaschkowitz, Barbara;
- Vanakker, Olivier M.;
- De Paepe, Anne;
- Menten, Björn;
- Martin, Thomas;
- Weber, Georg;
- Christmann, Alexander;
- Krier, Romain;
- Scheid, Simone;
- McNerlan, Susan E.;
- McKee, Shane;
- Tzschach, Andreas
Publication type:
Article
Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2352, doi. 10.1002/ajmg.a.36077
By:
- JanssEN, Alexander;
- HosEN, Mohammad J.;
- Jeannin, Philippe;
- Coucke, Paul J.;
- De Paepe, Anne;
- Vanakker, Olivier M.
Publication type:
Article
Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2855, doi. 10.1002/ajmg.a.34264
By:
- Vanakker, Olivier M.;
- Leroy, Bart P.;
- Schurgers, Leon J.;
- Vermeer, Cees;
- Coucke, Paul J.;
- De Paepe, Anne
Publication type:
Article
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome.
Published in:
Journal of Bone & Mineral Research, 2011, v. 26, n. 3, p. 666, doi. 10.1002/jbmr.250
By:
- Kelley, Brian P.;
- Malfait, Fransiska;
- Bonafe, Luisa;
- Baldridge, Dustin;
- Homan, Erica;
- Symoens, Sofie;
- Willaert, Andy;
- Elcioglu, Nursel;
- Van Maldergem, Lionel;
- Verellen-Dumoulin, Christine;
- Gillerot, Yves;
- Napierala, Dobrawa;
- Krakow, Deborah;
- Beighton, Peter;
- Superti-Furga, Andrea;
- De Paepe, Anne;
- Lee, Brendan
Publication type:
Article
Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men.
Published in:
Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1951, doi. 10.1359/JBMR.050705
By:
- Crabbe, Patricia;
- Balemans, Wendy;
- Willaert, Andy;
- Van Pottelbergh, Inge;
- Cleiren, Erna;
- Coucke, Paul J;
- Ai, Minrong;
- Goemaere, Stefan;
- Van Hul, Wim;
- De Paepe, Anne;
- Kaufman, Jean-Marc
Publication type:
Article
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Published in:
Nature Genetics, 2006, v. 38, n. 4, p. 452, doi. 10.1038/ng1764
By:
- Coucke, Paul J.;
- Willaert, Andy;
- Wessels, Marja W.;
- Callewaert, Bert;
- Zoppi, Nicoletta;
- De Backer, Julie;
- Fox, Joyce E.;
- Mancini, Grazia M. S.;
- Kambouris, Marios;
- Gardella, Rita;
- Facchetti, Fabio;
- Willems, Patrick J.;
- Forsyth, Ramses;
- Dietz, Harry C.;
- Barlati, Sergio;
- Colombi, Marina;
- Loeys, Bart;
- De Paepe, Anne
Publication type:
Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Published in:
Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
By:
- Otto, Edgar A;
- Loeys, Bart;
- Khanna, Hemant;
- Hellemans, Jan;
- Sudbrak, Ralf;
- Shuling Fan;
- Muerb, Ulla;
- O'Toole, John F;
- Helou, Juliana;
- Attanasio, Massimo;
- Utsch, Boris;
- Sayer, John A;
- Lillo, Concepcion;
- Jimeno, David;
- Coucke, Paul;
- De Paepe, Anne;
- Reinhardt, Richard;
- Klages, Sven;
- Tsuda, Motoyuki;
- Kawakami, Isao
Publication type:
Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Published in:
Nature Genetics, 2004, v. 36, n. 11, p. 1213, doi. 10.1038/ng1453
By:
- Hellemans, Jan;
- Preobrazhenska, Olena;
- Willaert, Andy;
- Debeer, Philippe;
- Verdonk, Peter C. M;
- Costa, Teresa;
- Janssens, Katrien;
- Menten, Bjorn;
- Roy, Nadine Van;
- Vermeulen, Stefan J. T.;
- Savarirayan, Ravi;
- Hul, Wim Van;
- Vanhoenacker, Filip;
- Huylebroeck, Danny;
- Paepe, Anne De;
- Naeyaert, Jean-Marie;
- Vandesompele, Jo;
- Speleman, Frank;
- Verschueren, Kristin;
- Coucke, Paul J.
Publication type:
Article
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Published in:
Nature Genetics, 2003, v. 33, n. 4, p. 463, doi. 10.1038/ng1122
By:
- Dode, Catherine;
- Levilliers, Jacqueline;
- Dupont, Jean-Michel;
- De Paepe, Anne;
- Le Du, Nathalie;
- Soussi-Yanicostas, Nadia;
- Coimbra, Roney S.;
- Delmaghani, Sedigheh;
- Compain-Nouaille, Sylvie;
- Baverel, Francoise;
- Pecheux, Christophe;
- Le Tessier, Dominique;
- Cruaud, Corinne;
- Delpech, Marc;
- Speleman, Frank;
- Vermeulen, Stefan;
- Amalfitano, Andrea;
- Bachelot, Yvan;
- Bouchard, Philippe
Publication type:
Article
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Published in:
Nature Genetics, 2000, v. 25, n. 2, p. 223, doi. 10.1038/76102
By:
- Le Saux, Olivier;
- Urban, Zsolt;
- Tschuch, Cordula;
- Csiszar, Katalin;
- Bacchelli, Barbara;
- Quaglino, Daniela;
- Pasquali-Ronchetti, Ivonne;
- Pope, F. Michael;
- Richards, Allan;
- Terry, Sharon;
- Bercovitch, Lionel;
- de Paepe, Anne;
- Boyd, Charles D.
Publication type:
Article
Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay.
Published in:
2002
By:
- de Preter, Katleen;
- Speleman, Frank;
- Combaret, Valérie;
- Lunec, John;
- Laureys, Geneviève;
- Eussen, Bert H.J.;
- Francotte, Nadine;
- Board, Julian;
- Pearson, Andy D.J.;
- de Paepe, Anne;
- van Roy, Nadine;
- Vandesompele, Jo;
- Combaret, Valérie;
- Laureys, Geneviève
Publication type:
journal article
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.
Published in:
1999
By:
- Nuytinck, Lieve;
- Sayli, Bekir Sitki;
- Karen, Wettinck;
- De Paepe, Anne;
- Nuytinck, L;
- Sayli, B S;
- Karen, W;
- De Paepe, A
Publication type:
journal article
BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
Published in:
Scientific Reports, 2016, p. 30330, doi. 10.1038/srep30330
By:
- Boel, Annekatrien;
- Steyaert, Woutert;
- De Rocker, Nina;
- Menten, Björn;
- Callewaert, Bert;
- De Paepe, Anne;
- Coucke, Paul;
- Willaert, Andy
Publication type:
Article
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
Published in:
Cleft Palate Craniofacial Journal, 2022, v. 59, n. 11, p. 1346, doi. 10.1177/10556656211050006
By:
- Shenoy, Rathika D.;
- Shetty, Vikram;
- Dheedene, Annelies;
- Menten, Björn;
- Pandyanda Nanjappa, Dechamma;
- Chakraborty, Gunimala;
- Sips, Patrick;
- de Paepe, Anne;
- Callewaert, Bert;
- Chakraborty, Anirban
Publication type:
Article
Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies.
Published in:
PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109091
By:
- Vanhauwaert, Suzanne;
- Van Peer, Gert;
- Rihani, Ali;
- Janssens, Els;
- Rondou, Pieter;
- Lefever, Steve;
- De Paepe, Anne;
- Coucke, Paul J.;
- Speleman, Frank;
- Vandesompele, Jo;
- Willaert, Andy
Publication type:
Article
Molecular Docking Simulations Provide Insights in the Substrate Binding Sites and Possible Substrates of the ABCC6 Transporter.
Published in:
PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102779
By:
- Hosen, Mohammad Jakir;
- Zubaer, Abdullah;
- Thapa, Simrika;
- Khadka, Bijendra;
- De Paepe, Anne;
- Vanakker, Olivier M.
Publication type:
Article
Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model.
Published in:
PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089749
By:
- Renard, Marjolijn;
- Trachet, Bram;
- Casteleyn, Christophe;
- Campens, Laurence;
- Cornillie, Pieter;
- Callewaert, Bert;
- Deleye, Steven;
- Vandeghinste, Bert;
- van Heijningen, Paula M.;
- Dietz, Harry;
- De Vos, Filip;
- Essers, Jeroen;
- Staelens, Steven;
- Segers, Patrick;
- Loeys, Bart;
- Coucke, Paul;
- De Paepe, Anne;
- De Backer, Julie
Publication type:
Article
A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement.
Published in:
PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020121
By:
- Symoens, Sofie;
- Malfait, Fransiska;
- Vlummens, Philip;
- Hermanns-Lê, Trinh;
- Syx, Delfien;
- De Paepe, Anne
Publication type:
Article
Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines.
Published in:
PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008676
By:
- De Weer, An;
- Poppe, Bruce;
- Vergult, Sarah;
- Van Vlierberghe, Pieter;
- Petrick, Marjan;
- De Bock, Robrecht;
- Benoit, Yves;
- Noens, Lucien;
- De Paepe, Anne;
- Van Roy, Nadine;
- Menten, Björn;
- Speleman, Frank
Publication type:
Article
The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).
Published in:
Acta Gastro-Enterologica Belgica, 2011, v. 74, n. 3, p. 421
By:
- Claes, Kathleen;
- Dahan, Karin;
- Tejpar, S.;
- De Paepe, Anne;
- Bonduelle, Maryse;
- Abramowicz, Marc;
- Verellen, Christine;
- Franchimont, Denis;
- Van Cutsem, Eric;
- Kartheuser, Alex
Publication type:
Article
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 6, p. 3010, doi. 10.1210/jc.2009-2218
By:
- D’haene, Barbara;
- Hellemans, Jan;
- Craen, Margarita;
- De Schepper, Jean;
- Devriendt, Koen;
- Fryns, Jean-Pierre;
- Keymolen, Kathelijn;
- Debals, Eveline;
- de Klein, Annelies;
- de Jong, Elisabeth M.;
- Segers, Karin;
- De Paepe, Anne;
- Mortier, Geert;
- Vandesompele, Jo;
- De Baere, Elfride
Publication type:
Article
Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.
Published in:
2017
By:
- Janssens, Sandra;
- Chokoshvili, Davit;
- Vears, Danya F.;
- De Paepe, Anne;
- Borry, Pascal
Publication type:
journal article
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 ( RIN2).
Published in:
Human Genetics, 2010, v. 128, n. 1, p. 79, doi. 10.1007/s00439-010-0829-0
By:
- Syx, Delfien;
- Malfait, Fransiska;
- Laer, Lut van;
- Hellemans, Jan;
- Hermanns-Lê, Trinh;
- Willaert, Andy;
- Benmansour, Abdelmajid;
- Paepe, Anne De;
- Verloes, Alain
Publication type:
Article
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
Published in:
Human Genetics, 2000, v. 106, n. 6, p. 605, doi. 10.1007/s004390000298
By:
- De Vos, Anick;
- Sermon, Karen;
- Van de Velde, Hilde;
- Joris, Hubert;
- Vandervorst, Mark;
- Lissens, Willy;
- De Paepe, Anne;
- Liebaers, Inge;
- Van Steirteghem, André
Publication type:
Article
Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma.
Published in:
Oncogene, 2004, v. 23, n. 15, p. 2732, doi. 10.1038/sj.onc.1207421
By:
- Van Gele, Mireille;
- Boyle, Glen M.;
- Cook, Anthony L.;
- Vandesompele, Jo;
- Boonefaes, Tom;
- Rottiers, Pieter;
- Van Roy, Nadine;
- De Paepe, Anne;
- Parsons, Peter G.;
- Leonard, J. Helen;
- Speleman, Frank
Publication type:
Article
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 517, doi. 10.1038/ejhg.2013.191
By:
- Yasmeen, Saiqa;
- Lund, Katrine;
- De Paepe, Anne;
- De Bie, Sylvia;
- Heiberg, Arvid;
- Silva, João;
- Martins, Márcia;
- Skjørringe, Tina;
- Møller, Lisbeth B
Publication type:
Article
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68
By:
- Arslan-Kirchner, Mine;
- Epplen, Jörg T.;
- Faivre, Laurence;
- Jondeau, Guillaume;
- Schmidtke, Jörg;
- De Paepe, Anne;
- Loeys, Bart
Publication type:
Article

Found: 146