1516 Genetic mouse models and a new pro-lymphangiogenic treatment approach reveal beneficial effects of lymphatic vessel activation in cutaneous wound healing von Brunner, L.M., He, Y., Cousin, N., Albin, L., Schmucki, B., Supersaxo, S., Neri, D., Detmar, M.

Volltext

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases von Neveling, Kornelia, Feenstra, Ilse, Gilissen, Christian, Hoefsloot, Lies H., Kamsteeg, Erik-Jan, Mensenkamp, Arjen R., Rodenburg, Richard J. T., Yntema, Helger G., Spruijt, Liesbeth, Vermeer, Sascha, Rinne, Tuula, van Gassen, Koen L., Bodmer, Danielle, Lugtenberg, Dorien, de Reuver, Rick, Buijsman, Wendy, Derks, Ronny C., Wieskamp, Nienke, van den Heuvel, Bert, Ligtenberg, Marjolijn J.L., Kremer, Hannie, Koolen, David A., van de Warrenburg, Bart P.C., Cremers, Frans P.M., Marcelis, Carlo L.M., Smeitink, Jan A.M., Wortmann, Saskia B., van Zelst-Stams, Wendy A.G., Veltman, Joris A., Brunner, Han G., Scheffer, Hans, Nelen, Marcel R.

Volltext

Intermuscular and perimuscular fat expansion in obesity correlates with skeletal muscle T cell and macrophage infiltration and insulin resistance von Khan, I M, Perrard, X-YD, Brunner, G, Lui, H, Sparks, L M, Smith, S R, Wang, X, Shi, Z-Z, Lewis, D E, Wu, H, Ballantyne, C M

Volltext

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype von Roifman, M., Marcelis, C.L.M., Paton, T., Marshall, C., Silver, R., Lohr, J.L., Yntema, H.G., Venselaar, H., Kayserili, H., van Bon, B., Seaward, G., Brunner, H.G., Chitayat, D.

Volltext

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders von Hoegen, Brechtje, Hampstead, Juliet E., Engelke, Udo F.H., Kulkarni, Purva, Wevers, Ron A., Brunner, Han G., Coene, Karlien L. M., Gilissen, Christian

Volltext

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study von van de Putte, Romy, van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Guo, Michel, Brunner, Han G., Addor, Marie-Claude, Cavero-Carbonell, Clara, Dias, Carlos M., Draper, Elizabeth S., Etxebarriarteun, Larraitz, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Kurinczuk, Jenny J., Lanzoni, Monica, Latos-Bielenska, Anna, Luyt, Karen, O’Mahony, Mary T., Miller, Nicola, Mullaney, Carmel, Nelen, Vera, Neville, Amanda J., Perthus, Isabelle, Pierini, Anna, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Rouget, Florence, Schaub, Bruno, Tucker, David, Wellesley, Diana, Wiesel, Awi, Zymak-Zakutnia, Natalya, Loane, Maria, Barisic, Ingeborg, de Walle, Hermien E. K., Roeleveld, Nel, Bergman, Jorieke E. H.

Volltext

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal network... von Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael

Volltext

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers von Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

Volltext

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: A systematic review von Wijers, Charlotte H. W., van Rooij, Iris A. L. M., Marcelis, Carlo L. M., Brunner, Han G., de Blaauw, Ivo, Roeleveld, Nel

Volltext

High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer von HOOGERBRUGGE, N, BULT, P, DE WIDT-LEVERT, L. M, BEEX, L. V, KIEMENEY, L. A, LIGTENBERG, M. J. L, MASSUGER, L. F, BOETES, C, MANDERS, P, BRUNNER, H. G

Volltext

Plant-fungal interactions in hybrid zones: Ectomycorrhizal communities of willows (Salix) in an alpine glacier forefield von Arraiano-Castilho, R., Bidartondo, M.I., Niskanen, T., Zimmermann, S., Frey, B., Brunner, I., Senn-Irlet, B., Hörandl, E., Gramlich, S., Suz, L.M.

Volltext

Climatic shifts threaten alpine mycorrhizal communities above the treeline von Arraiano-Castilho, R., Bidartondo, M.I., Niskanen, T., Brunner, I., Zimmermann, S., Senn-Irlet, B., Frey, B., Peintner, U., Mrak, T., Suz, L.M.

Volltext

Painful swelling after a noxious event and the development of complex regional pain syndrome 1: A one‐year prospective study von Brunner, F., Bachmann, L.M., Perez, R.S.G.M., Marinus, J., Wertli, M.M.

Volltext

Do post-operative complications following total pancreatectomy and autologous islet cell transplantation (tpiat) affect long term insulin independence? von Yoder, L.M., Ahmad, S.A., Wima, K., Brunner, J.E., Wilson, G.C., Sussman, J., Patel, S.H.

Volltext

The high readmission burden following tpiat may be a marker for long-term islet dysfunction von Yoder, L.M., Patel, S.H., Ahmad, S.A., Wima, K., Brunner, J.E., Sussman, J., Wilson, G.C.

Volltext

Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants von Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.

Volltext

Concordance of qualitative bone scintigraphy results with presence of clinical complex regional pain syndrome 1: Meta-analysis of test accuracy studies von Ringer, R., Wertli, M., Bachmann, L.M., Buck, F.M., Brunner, F.

Volltext

Early outcomes and complications following cardiac surgery in patients testing positive for coronavirus disease 2019: An international cohort study von Dawson, Brett E., Lawday, Samuel, Pockney, Peter, Radenkovic, Dejan, Dajti, I., Richtig, E., Cicco, R., Jarry, C., Rojas-Tejada, D.A., Kristensen, H.Ø., Crespo, A., Abd-Elkarem, M.M., Gueutier, A., Passot, G., Kassir, R., Thole, S., Hatz, R., Lampert, C., Stavroglou, A., Marín, C., Maguire, P.J., Taffurelli, M., Borghi, F., Giraudo, G., Dester, S., Righini, E., Koleva Radica, M., Di Bella, A., Rossi, G., Norcini, C., Mandato, V.D., Masciandaro, A., Sagnotta, A., Campagnaro, T., Santana Ortiz, R., Hernández-Nava, J.M., Agodirin, O., Suazo Carmelo, C., Vélez Segura, E., Mendiola, G.C., Almeida, A.C., Godinho, M., Caiado, A., Vieira, P., Abutaka, A., Alfarhan, O., Alawi, K., Siddiqui, A., Awad, S., Paskas, J., Munarriz, M., Juarez-Pomes, M., Torner, P., Dellonder Frigolé, J., Martinez Pascual, P., Fernández-Candela, A., Yebes, A., Osorio, A., García-Porcel, V., Aghababyan, K., Toledano, M., Sanchez-Fuentes, N., Älgå, A., Onan, M.A., Kaya, T., Ahmeidat, A., Lala, A.K., Aljanadi, F., Parente, A., Findlay, L., Ambler, G.K., Ong, C.T., Mistry, S., Chandarana, K., Nunes, Q.M., Harky, A., Stroman, L., Webber, L., Minicozzi, A., Knowles, C., Labib, A., Advani, R., Warburton, H., Smith, L., Rela, M., Biliatis, I., Thakrar, A., Barlow, C., Jallad, S., Gaunt, A., Spencer, N., Whitmore, H., Ferguson, H., Divecha, H., Burahee, A., Kent, A., Hanna, N., Myers, J., Soliman, A., Engel, J.

Volltext

Genotype-phenotype correlations in MYCN-related Feingold syndrome von Marcelis, Carlo L.M, Hol, Frans A, Graham, Gail E, Rieu, Paul N.M.A, Kellermayer, Richard, Meijer, Rowdy P.P, Lugtenberg, Dorien, Scheffer, Hans, van Bokhoven, Hans, Brunner, Han G, de Brouwer, Arjan P.M

Volltext

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations von van de Putte, Romy, Wijers, Charlotte H W, Reutter, Heiko, Vermeulen, Sita H, Marcelis, Carlo L M, Brosens, Erwin, Broens, Paul M A, Homberg, Markus, Ludwig, Michael, Jenetzky, Ekkehart, Zwink, Nadine, Sloots, Cornelius E J, de Klein, Annelies, Brooks, Alice S, Hofstra, Robert M W, Holsink, Sophie A C, van der Zanden, Loes F M, Galesloot, Tessel E, Tam, Paul Kwong-Hang, Steehouwer, Marloes, Acuna-Hidalgo, Rocio, Vorst, Maartje van de, Kiemeney, Lambertus A, Garcia-Barceló, Maria-Mercè, de Blaauw, Ivo, Brunner, Han G, Roeleveld, Nel, van Rooij, Iris A L M

Volltext