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Author/Creator Marcelis, Carlo

1. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations. Issue 12 (16th August 2013)

Authors:
Dworschak, Gabriel C.; Draaken, Markus; Marcelis, Carlo; de Blaauw, Ivo; Pfundt, Rolph; van Rooij, Iris A.L.M.; Bartels, Enrika; Hilger, Alina; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Schmidt, Dominik; Märzheuser, Stefanie; Hosie, Stuart; Weih, Sandra; Holland‐Cunz, Stef...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3035
Record Type:
Journal Article
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2. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018)

Authors:
Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
54
Record Type:
Journal Article
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3. A mutation update for the FLNC gene in myopathies and cardiomyopathies. Issue 6 (20th March 2020)

Authors:
Verdonschot, Job A. J.; Vanhoutte, Els K.; Claes, Godelieve R. F.; Helderman‐van den Enden, Apollonia T. J. M.; Hoeijmakers, Janneke G. J.; Hellebrekers, Debby M. E. I.; de Haan, Amber; Christiaans, Imke; Lekanne Deprez, Ronald H.; Boen, Hanne M.; van Craenenbroeck, Emeline M.; Loeys, Bart L.; Ho...
Journal:
Human mutation
Issue:
Volume 41:Issue 6(2020)
Page Start:
1091
Record Type:
Journal Article
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4. Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. Issue 4 (2nd July 2018)

Authors:
Cannaerts, Elyssa; Kempers, Marlies; Maugeri, Alessandra; Marcelis, Carlo; Gardeitchik, Thatjana; Richer, Julie; Micha, Dimitra; Beauchesne, Luc; Timmermans, Janneke; Vermeersch, Paul; Meyten, Nathalie; Chénier, Sébastien; van de Beek, Gerarda; Peeters, Nils; Alaerts, Maaike; Schepers, Dorien; Va...
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 4(2019)
Page Start:
220
Record Type:
Journal Article
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5. Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification. (30th September 2022)

Authors:
van der Meulen, Marijke H.; Herkert, Johanna C.; den Boer, Susanna L.; du Marchie Sarvaas, Gideon J.; Blom, Nico A.; ten Harkel, Arend D.J.; Breur, Hans M.P.J.; Rammeloo, Lukas A.J.; Tanke, Ronald B.; Marcelis, Carlo; van de Laar, Ingrid M.B.H.; Verhagen, Judith M.A.; Lekanne dit Deprez, Ronald H...
Journal:
Circulation
Issue:
Volume 15:Number 5(2022)
Page Start:
e002981
Record Type:
Journal Article
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6. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. Issue 10 (29th July 2022)

Authors:
van Woerden, Geeske M.; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella A.; Baban, Anwar; Bassetti, Jennifer A.; van Bever, Yolande; Bird, Lynne M.; van Bon, Bregje W.; Brooks, Alice S.; Guan, Qiaoning; Klee, Eric W.; Marcelis, Carlo; Rosado, Joel M.; Schimmenti, Lisa A.; Shikany, Amy R....
Journal:
Human mutation
Issue:
Volume 43:Issue 10(2022)
Page Start:
1377
Record Type:
Journal Article
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8. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015)

Authors:
Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
461
Record Type:
Journal Article
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9. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations. Issue 12 (16th August 2013)

Authors:
Dworschak, Gabriel C.; Draaken, Markus; Marcelis, Carlo; de Blaauw, Ivo; Pfundt, Rolph; van Rooij, Iris A.L.M.; Bartels, Enrika; Hilger, Alina; Jenetzky, Ekkehart; Schmiedeke, Eberhard; Grasshoff‐Derr, Sabine; Schmidt, Dominik; Märzheuser, Stefanie; Hosie, Stuart; Weih, Sandra; Holland‐Cunz, Stef...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
3035
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant. (29th December 2022)

Authors:
Hoorntje, Edgar T.; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N.; te Meerman, Gerard J.; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D.; Barge-Schaapveld, Daniela Q.C.M.; van den Berg, Maarten P.; Bootsma, Marianne; Bosman, Laurens P.; Correnti, Gemma; Duflou, Johan; Ep...
Journal:
Circulation
Issue:
Volume 16:Number 1(2023)
Page Start:
e003672
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗