Search Results - "Dulfer, Eelco"

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities by Boudin, Eveline, de Jong, Tjeerd R., Prickett, Tim C.R., Lapauw, Bruno, Toye, Kaatje, Van Hoof, Viviane, Luyckx, Ilse, Verstraeten, Aline, Heymans, Hugo S.A., Dulfer, Eelco, Van Laer, Lut, Berry, Ian R., Dobbie, Angus, Blair, Ed, Loeys, Bart, Espiner, Eric A., Wit, Jan M., Van Hul, Wim, Houpt, Peter, Mortier, Geert R.

“…The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely,…”
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Diagnostic yield and therapeutic implications of 25 years of specialized pediatric Marfan clinic by Accord, Ryan E., Koster, Chris, Dulfer, Eelco, du Marchie Sarvaas, Gideon J., Maass, Saskia W. M. C., Berger, Rolf M. F., van den Berg, Maarten P.

“…The purpose of this study is to evaluate the diagnostic and therapeutic yield of a specialized clinic for children with suspicion of a hereditary thoracic…”
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Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders by Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., de Beek, Irma, Dulfer, Eelco, Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra

“…Simultaneous analysis of multiple genes using next‐generation sequencing (NGS) technology has become widely available. Copy‐number variations (CNVs) in…”
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort by van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.

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Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient by Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Geneviève, Baars, Marieke J.H., Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y., Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A., Odent, Sylvie, Morice‐Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, Tintelen, J. Peter, Maugeri, Alessandra, Arnaud, Pauline

“…Disease‐causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number…”
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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN) by van de Laar, Ingrid M.B.H., Baas, Annette F., De Backer, Julie, Blankenstein, Jan D., Dulfer, Eelco, Helderman-van den Enden, Apollonia T.J.M., Houweling, Arjan C., Kempers, Marlies JE, Loeys, Bart, Malfait, Fransiska, Robert, Leema, Tanteles, George, Frank, Michael

“…Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder clinically characterized by vascular, intestinal and uterine fragility and caused by…”
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Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort by van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.

“…Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene confer a high risk for thoracic aortic aneurysms and aortic dissections. This…”
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Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships by Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, Waard, Vivian, Wit, Jan M., Menke, Leonie A.

“…To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate…”
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Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health by Warnink-Kavelaars, Jessica, de Koning, Lisanne E, Rombaut, Lies, Alsem, Mattijs W, Menke, Leonie A, Oosterlaan, Jaap, Buizer, Annemieke I, Engelbert, Raoul H H, On Behalf Of The Pediatric Heritable Connective Tissue Disorders Study Group

“…Heritable Connective Tissue Disorders (HCTD) show an overlap in the physical features that can evolve in childhood. It is unclear to what extent children with…”
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Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients by Demirdas, Serwet, van den Bersselaar, Lisa M, Lechner, Rosan, Bos, Jessica, Alsters, Suzanne I M, Baars, Marieke J H, Baas, Annette F, Baysal, Özlem, van der Crabben, Saskia N, Dulfer, Eelco, Giesbertz, Noor A A, Helderman-van den Enden, Apollonia T J M, Hilhorst-Hofstee, Yvonne, Kempers, Marlies J E, Komdeur, Fenne L, Loeys, Bart, Majoor-Krakauer, Daniëlle, Ockeloen, Charlotte W, Overwater, Eline, van Tintelen, Peter J, Voorendt, Marsha, de Waard, Vivian, Maugeri, Alessandra, Brüggenwirth, Hennie T, van de Laar, Ingrid M B H, Houweling, Arjan C

“…Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous…”
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Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10 by Dulfer, Eelco, Hoefsloot, Lies H., Timmer, Albertus, Mom, Constantijne, van Essen, Anthonie J.

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Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10 by Dulfer, Eelco, Hoefsloot, Lies H, Timmer, Albertus, Mom, Constantijne, van Essen, Anthonie J

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