Marfan Syndrome, A Review von Pals, Gerard

Volltext

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome von Franken, Romy, Teixido-Tura, Gisela, Brion, Maria, Forteza, Alberto, Rodriguez-Palomares, Jose, Gutierrez, Laura, Garcia Dorado, David, Pals, Gerard, Mulder, Barbara JM, Evangelista, Artur

Volltext

The Risk for Type B Aortic Dissection in Marfan Syndrome von den Hartog, Alexander W., MD, Franken, Romy, MD, Zwinderman, Aeilko H., PhD, Timmermans, Janneke, MD, Scholte, Arthur J., MD, PhD, van den Berg, Maarten P., MD, PhD, de Waard, Vivian, PhD, Pals, Gerard, PhD, Mulder, Barbara J.M., MD, PhD, Groenink, Maarten, MD, PhD

Volltext

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia von Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.

Volltext

In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells von Claeys, Lauria, Zhytnik, Lidiia, Ventura, Laura, Wisse, Lisanne E, Eekhoff, Elisabeth M W, Pals, Gerard, Bravenboer, Nathalie, Heine, Vivi M, Micha, Dimitra

Volltext

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia von Moore, Daniel J., Onoufriadis, Alexandros, Shoemark, Amelia, Simpson, Michael A., zur Lage, Petra I., de Castro, Sandra C., Bartoloni, Lucia, Gallone, Giuseppe, Petridi, Stavroula, Woollard, Wesley J., Antony, Dinu, Schmidts, Miriam, Didonna, Teresa, Makrythanasis, Periklis, Bevillard, Jeremy, Mongan, Nigel P., Djakow, Jana, Pals, Gerard, Lucas, Jane S., Marthin, June K., Nielsen, Kim G., Santoni, Federico, Guipponi, Michel, Hogg, Claire, Antonarakis, Stylianos E., Emes, Richard D., Chung, Eddie M.K., Greene, Nicholas D.E., Blouin, Jean-Louis, Jarman, Andrew P., Mitchison, Hannah M.

Volltext

Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate von Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra

Volltext

[18F]NaF PET/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva von Eekhoff, E. Marelise W., Botman, Esmée, Coen Netelenbos, J., de Graaf, Pim, Bravenboer, Nathalie, Micha, Dimitra, Pals, Gerard, de Vries, Teun J., Schoenmaker, Ton, Hoebink, Max, Lammertsma, Adriaan A., Raijmakers, Pieter G.H.M.

Volltext

The intricate mechanism of PLS3 in bone homeostasis and disease von Zhong, Wenchao, Pathak, Janak L, Liang, Yueting, Zhytnik, Lidiia, Pals, Gerard, Eekhoff, Elisabeth M W, Bravenboer, Nathalie, Micha, Dimitra

Volltext

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J von Wiegant, Wouter W, De Winter, Johan P, Rooimans, Martin A, Waisfisz, Quinten, Pals, Gerard, Hiom, Kevin, Elghalbzouri-Maghrani, Elhaam, Levitus, Marieke, Joenje, Hans, Vries, Yne de, Hussain, Shobbir, Zdzienicka, Ma gorzata Z, Steltenpool, Jûrgen, Godthelp, Barbara C, Mathew, Christopher G, Arwert, Fré

Volltext

Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1 von Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E, van Essen, Huib W, Eekhoff, E Marelise W, Pals, Gerard, Bravenboer, Nathalie, Micha, Dimitra

Volltext

Functional Insights in PLS3-Mediated Osteogenic Regulation von Zhong, Wenchao, Neugebauer, Janine, Pathak, Janak L, Li, Xingyang, Pals, Gerard, Zillikens, M Carola, Eekhoff, Elisabeth M W, Bravenboer, Nathalie, Zhang, Qingbin, Hammerschmidt, Matthias, Wirth, Brunhilde, Micha, Dimitra

Volltext

Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study von Storoni, Silvia, Treurniet, Sanne, Maugeri, Alessandra, Pals, Gerard, van den Aardweg, Joost G, van der Pas, Stéphanie L, Elting, Mariet W, Kloen, Peter, Micha, Dimitra, Eekhoff, Elisabeth Marelise W

Volltext

Bioactivity of compounds secreted by symbiont bacteria of Nudibranchs from Indonesia von Kristiana, Rhesi, Bedoux, Gilles, Pals, Gerard, Mudianta, I. Wayan, Taupin, Laure, Marty, Christel, Asagabaldan, Meezan Ardhanu, Ayuningrum, Diah, Trianto, Agus, Bourgougnon, Nathalie, Radjasa, Ocky Karna, Sabdono, Agus, Hanafi, Muhammad

Volltext

Inflammation aggravates disease severity in Marfan syndrome patients von Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J, Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P, van Tintelen, J Peter, Pals, Gerard, Baars, Marieke J H, Mulder, Barbara J M, Zwinderman, Aeilko H

Volltext

Mapping the Response of Human Osteocytes in Native Matrix to Mechanical Loading Using RNA Sequencing von Zhang, Chen, Essen, Huib W., Sie, Daoud, Micha, Dimitra, Pals, Gerard, Klein‐Nulend, Jenneke, Bravenboer, Nathalie

Volltext

From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients von Storoni, Silvia, Verdonk, Sara J E, Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W, Sakkers, Ralph J B, van den Aardweg, Joost G, Eekhoff, Elisabeth M W, Micha, Dimitra

Volltext

Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report von Yuniati, Renni, Hellmi, Rakhma Yanti, Dwijayanti, Gema Citra, Astuti, Meira Dewi Kusuma, Pals, Gerard, Micha, Dimitra, Faradz, Sultana MH

Volltext

Growth of the aortic root in children and young adults with Marfan syndrome von van Elsäcker, Elroy, Vink, Arja S, Menke, Leonie A, Pals, Gerard, Bokenkamp, Regina, Backx, Ad C P M, Hilhorst-Hofstee, Yvonne, Blom, Nicolaas A, van der Hulst, Annelies E

Volltext

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer von Piek, Jurgen M. J., van Diest, Paul J., Zweemer, Ronald P., Jansen, Jan W., Poort-Keesom, Ria J. J., Menko, Fred H., Gille, Johan J. P., Jongsma, Ans P. M., Pals, Gerard, Kenemans, Peter, Verheijen, René H. M.

Volltext