Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
Vandesompele, Jo, Verschueren, Kristin, Savarirayan, Ravi, Costa, Teresa, Huylebroeck, Danny, Mortier, Geert R, Willaert, Andy, Preobrazhenska, Olena, Janssens, Katrien, Vermeulen, Stefan J T, Naeyaert, Jean-Marie, Hul, Wim Van, Coucke, Paul J, Paepe, Anne De, Menten, Bjorn, Hellemans, Jan, Debeer, Philippe, Verdonk, Peter C M, Vanhoenacker, Filip, Speleman, Frank, Roy, Nadine Van
Published in Nature genetics (01.11.2004)
Published in Nature genetics (01.11.2004)
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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements
Dimitrov, B I, de Ravel, T, Van Driessche, J, de Die-Smulders, C, Toutain, A, Vermeesch, J R, Fryns, J P, Devriendt, K, Debeer, P
Published in Journal of medical genetics (01.02.2010)
Published in Journal of medical genetics (01.02.2010)
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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly
Dimitrov, Boyan Ivanov, Voet, Thierry, De Smet, Luc, Vermeesch, Joris Robert, Devriendt, Koen, Fryns, Jean-Pierre, Debeer, Philippe
Published in Journal of medical genetics (01.08.2010)
Published in Journal of medical genetics (01.08.2010)
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Myositis ossificans circumscripta of the triceps due to overuse in a female swimmer
Defoort, Saartje, Arnout, N A, Debeer, P D
Published in International journal of shoulder surgery (01.01.2012)
Published in International journal of shoulder surgery (01.01.2012)
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crystal structure of Neisseria gonorrhoeae PriB reveals mechanistic differences among bacterial DNA replication restart pathways
Dong, Jinlan, George, Nicholas P, Duckett, Katrina L, DeBeer, Madeleine A.P, Lopper, Matthew E
Published in Nucleic acids research (01.01.2010)
Published in Nucleic acids research (01.01.2010)
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Scapular winging: an unusual complication of bracing in idiopathic scoliosis
Debeer, P, Van Den Eede, E, Moens, P
Published in Clinical orthopaedics and related research (01.08.2007)
Published in Clinical orthopaedics and related research (01.08.2007)
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Journal Article
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse
PEETERS, H, DEBEER, P, VAN DE VEN, W, DEVRIENDT, K, BAIROCH, A, WILQUET, V, HUYSMANS, C, PARTHOENS, E, FRYNS, J. P, GEWILLIG, M, NAKAMURA, Y, NIIKAWA, N
Published in Human genetics (01.05.2003)
Published in Human genetics (01.05.2003)
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Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
Debeer, P, Bacchelli, C, Scambler, P J, De Smet, L, Fryns, J-P, Goodman, F R
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
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Responsiveness of the dutch version of the dash as an outcome measure for carpal tunnel syndrome
De Smet, L., De Kesel, R., Degreef, I., Debeer, P.
Published in Journal of hand surgery, British volume (01.02.2007)
Published in Journal of hand surgery, British volume (01.02.2007)
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Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli
Devriendt, Koenraad, Jaeken, Jaak, Matthijs, Gert, Van Esch, Hilde, Debeer, Philippe, Gewillig, Marc, Fryns, Jean-Pierre
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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Sporadic case of bilateral fusion of metacarpal 4 and 5
Debeer, P.H., De Smedt, M., Fryns, J.-P.
Published in American journal of medical genetics. Part A (01.03.2004)
Published in American journal of medical genetics. Part A (01.03.2004)
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A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses
Debeer, P., Baten, E., Huysmans, C., Van de Ven, W.J.M., Fryns, J.-P., Devriendt, K.
Published in American journal of medical genetics. Part A (01.08.2004)
Published in American journal of medical genetics. Part A (01.08.2004)
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The effectiveness of botulinum toxin A for persistent pain at the pectoral region after breast cancer treatment: Randomized controlled trial
De Groef, A., Devoogdt, N., Dams, L., Van der Gucht, E., Peers, K., Debeer, P.
Published in Annals of physical and rehabilitation medicine (01.07.2018)
Published in Annals of physical and rehabilitation medicine (01.07.2018)
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Physical mapping of the t(12;22) translocation breakpoints in a family with a complex type of 3/3'/4 synpolydactyly
DEBEER, P, SCHOENMAKERS, E. F. P. M, THOELEN, R, FRYNS, J.-P, DE VEN, W. J. M. V
Published in Cytogenetic and genome research (01.01.1998)
Published in Cytogenetic and genome research (01.01.1998)
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Conference Proceeding
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A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype
Fantini, Sebastian, Vaccari, Giulia, Brison, Nathalie, Debeer, Philippe, Tylzanowski, Przemko, Zappavigna, Vincenzo
Published in Human molecular genetics (01.03.2009)
Published in Human molecular genetics (01.03.2009)
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