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1,494 results

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Page 1
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Weitensteiner V, Zhang R, Bungenberg J, Marks M, Gehlen J, Ralser DJ, Hilger AC, Sharma A, Schumacher J, Gembruch U, Merz WM, Becker A, Altmüller J, Thiele H, Herrmann BG, Odermatt B, Ludwig M, Reutter H. Weitensteiner V, et al. Among authors: schumacher j. Birth Defects Res. 2018 Apr 17;110(7):587-597. doi: 10.1002/bdr2.1200. Epub 2018 Feb 1. Birth Defects Res. 2018. PMID: 29388391
Nine new twin pairs with esophageal atresia: a review of the literature and performance of a twin study of the disorder.
Schulz AC, Bartels E, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Heydweiller A, Bachour H, Schumacher J, Bartmann P, Nöthen MM, Reutter H. Schulz AC, et al. Among authors: schumacher j. Birth Defects Res A Clin Mol Teratol. 2012 Mar;94(3):182-6. doi: 10.1002/bdra.22879. Epub 2012 Jan 30. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22287212 Review.
Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
Choinitzki V, Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H. Choinitzki V, et al. Among authors: schumacher j. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):786-91. doi: 10.1002/bdra.23205. Epub 2013 Dec 5. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24307608
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.
Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: schumacher j. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.
Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup.
Bogs T, Zwink N, Chonitzki V, Hölscher A, Boemers TM, Münsterer O, Kurz R, Heydweiller A, Pauly M, Leutner A, Ure BM, Lacher M, Deffaa OJ, Thiele H, Bagci S, Jenetzky E, Schumacher J, Reutter H. Bogs T, et al. Among authors: schumacher j. Eur J Pediatr Surg. 2018 Apr;28(2):176-182. doi: 10.1055/s-0036-1597946. Epub 2017 Jan 6. Eur J Pediatr Surg. 2018. PMID: 28061520
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H. Zhang R, et al. Among authors: schumacher j. Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170. Sci Rep. 2017. PMID: 28176844 Free PMC article.
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Forstner AJ, Fischer SB, Schenk LM, Strohmaier J, Maaser-Hecker A, Reinbold CS, Sivalingam S, Hecker J, Streit F, Degenhardt F, Witt SH, Schumacher J, Thiele H, Nürnberg P, Guzman-Parra J, Orozco Diaz G, Auburger G, Albus M, Borrmann-Hassenbach M, González MJ, Gil Flores S, Cabaleiro Fabeiro FJ, Del Río Noriega F, Perez Perez F, Haro González J, Rivas F, Mayoral F, Bauer M, Pfennig A, Reif A, Herms S, Hoffmann P, Pirooznia M, Goes FS, Rietschel M, Nöthen MM, Cichon S. Forstner AJ, et al. Among authors: schumacher j. Transl Psychiatry. 2020 Feb 4;10(1):57. doi: 10.1038/s41398-020-0732-y. Transl Psychiatry. 2020. PMID: 32066727 Free PMC article.
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, Boemers TM, Pauly M, Leutner A, Fuchs J, Seitz G, Ludwikowski BM, Gomez B, Hubertus J, Heydweiller A, Kurz R, Leonhardt J, Kosch F, Holland-Cunz S, Münsterer O, Ure B, Schmiedeke E, Neser J, Degenhardt P, Märzheuser S, Kleine K, Schäfer M, Spychalski N, Deffaa OJ, Gosemann JH, Lacher M, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Grote P, Schumacher J, Thiele H, Reutter H. Zhang R, et al. Among authors: schumacher j. PLoS One. 2020 Jun 5;15(6):e0234246. doi: 10.1371/journal.pone.0234246. eCollection 2020. PLoS One. 2020. PMID: 32502225 Free PMC article.
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
Gehlen J, Giel AS, Köllges R, Haas SL, Zhang R, Trcka J, Sungur AÖ, Renziehausen F, Bornholdt D, Jung D, Hoyer PD, Nordenskjöld A, Tibboel D, Vlot J, Spaander MCW, Smigiel R, Patkowski D, Roeleveld N, van Rooij IA, de Blaauw I, Hölscher A, Pauly M, Leutner A, Fuchs J, Niethammer J, Melissari MT, Jenetzky E, Zwink N, Thiele H, Hilger AC, Hess T, Trautmann J, Marks M, Baumgarten M, Bläss G, Landén M, Fundin B, Bulik CM, Pennimpede T, Ludwig M, Ludwig KU, Mangold E, Heilmann-Heimbach S, Moebus S, Herrmann BG, Alsabeah K, Burgos CM, Lilja HE, Azodi S, Stenström P, Arnbjörnsson E, Frybova B, Lebensztejn DM, Debek W, Kolodziejczyk E, Kozera K, Kierkus J, Kaliciński P, Stefanowicz M, Socha-Banasiak A, Kolejwa M, Piaseczna-Piotrowska A, Czkwianianc E, Nöthen MM, Grote P, Rygl M, Reinshagen K, Spychalski N, Ludwikowski B, Hubertus J, Heydweiller A, Ure B, Muensterer OJ, Aubert O, Gosemann JH, Lacher M, Degenhardt P, Boemers TM, Mokrowiecka A, Małecka-Panas E, Wöhr M, Knapp M, Seitz G, de Klein A, Oracz G, Brosens E, Reutter H, Schumacher J. Gehlen J, et al. Among authors: schumacher j. HGG Adv. 2022 Jan 25;3(2):100093. doi: 10.1016/j.xhgg.2022.100093. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35199045 Free PMC article.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H. Thiem CE, et al. Among authors: schumacher j. Birth Defects Res. 2022 Jun;114(10):478-486. doi: 10.1002/bdr2.2008. Epub 2022 Mar 31. Birth Defects Res. 2022. PMID: 35362267
1,494 results