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Maternal risk factors for the VACTERL association: A EUROCAT case-control study.

van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Bergman JEH, Roeleveld N. Birth Defects Res 2020;112:688-98.

 

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.

Saisawat P, Kohl S, Hilger A, Hwang DY, Gee HY, Dworschak G, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa D, Bogdanovic R, de Blaauw I, Marcelis C, Wijers C, Bartels E, Schmiedeke E, Schmidt D, Maerzheuser S, Grasshoff-Der S, Holland-Cunz S, Ludwig M, Noethen M, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann B, Solomon B, de Klein A, van Rooij I, Esposito F, Reutter H, Hildebrandt F. Kidney Int  2014;85:1310-7.

 

De novo Deletions of Chromosome 13q 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.

Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IALM, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H. Am J Med Genet A 2013;161:3035-3041.

 

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Hilger A, Schramm C, Pennimpede T, Wittler L, Dworschak GC, Bartels E, Engels H, Zink AM, Degenhardt F, Müller AM, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Hosie S, Holland-Cunz S, Wijers CH, Marcelis CL, van Rooij IA, Hildebrandt F, Herrmann BG, Nöthen MM, Ludwig M, Reutter H, Draaken M. Eur J Hum Genet  2013;21:1377-1382.

 

VATER/VACTERL association: identification of 7 new twin pairs, a systematic review of the literature, and a classical twin analysis.

Bartels E, Schulz AC, Mora NC, Pineda-Alvarez DE, Wijers CHW, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheissen M, Draaken M, Hoffmann P, Hilger A, Dworschak G, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, Rooij van IALM,  Solomon BD, Reutter HM. Clin Dysmorphol 2012;21:191-195.

 

Bias in patient series with VACTERL association.

Jenetzky E, Wijers CH, Marcelis CM, Zwink N, Reutter H, van Rooij IALM. Am J Med Genet A 2011;155A:2039-2041.