Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 21 (of 21 Records) |
| Query Trace: Esophageal Atresia[original query] |
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| Evidence that polymorphic deletion of the glutathione S-transferase gene, GSTM1, is associated with esophageal atresia. Birth defects research. Part A, Clinical and molecular teratology 2010 Sep 88 (9): 743-7. Filonzi Laura, Magnani Cinzia, de' Angelis Gian Luigi, Dallaglio Sara, Nonnis Marzano Frances |
| Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients. Pediatric surgery international 2012 Apr 28 (4): 335-40. Murphy Andrew J, Li Yina, Pietsch Joshua B, Chiang Chin, Lovvorn Harold |
| De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European journal of human genetics : EJHG 2013 Dec 21 (12): 1377-82. Hilger Alina, Schramm Charlotte, Pennimpede Tracie, Wittler Lars, Dworschak Gabriel C, Bartels Enrika, Engels Hartmut, Zink Alexander M, Degenhardt Franziska, Müller Annette M, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Hosie Stuart, Holland-Cunz Stefan, Wijers Charlotte H W, Marcelis Carlo L M, van Rooij Iris A L M, Hildebrandt Friedhelm, Herrmann Bernhard G, Nöthen Markus M, Ludwig Michael, Reutter Heiko, Draaken Mark |
| Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth defects research. Part A, Clinical and molecular teratology 2014 Oct 100 (10): 750-9. Zeidler Claudia, Woelfle Joachim, Draaken Markus, Mughal Sadaf S, Große Greta, Hilger Alina C, Dworschak Gabriel C, Boemers Thomas M, Jenetzky Ekkehart, Zwink Nadine, Lacher Martin, Schmidt Dominik, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Holland-Cunz Stefan, Schäfer Mattias, Bartels Enrika, Keppler Kathleen, Palta Markus, Leonhardt Johannes, Kujath Christina, Rißmann Anke, Nöthen Markus M, Reutter Heiko, Ludwig Micha |
| Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PloS one 2014 9 (1): e85313. Winberg Johanna, Gustavsson Peter, Papadogiannakis Nikos, Sahlin Ellika, Bradley Frideborg, Nordenskjöld Edvard, Svensson Pär-Johan, Annerén Göran, Iwarsson Erik, Nordgren Ann, Nordenskjöld Agne |
| Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Human mutation 2015 Aug . Hilger Alina C, Halbritter Jan, Pennimpede Tracie, van der Ven Amelie, Sarma Georgia, Braun Daniela A, Porath Jonathan D, Kohl Stefan, Hwang Daw-Yang, Dworschak Gabriel C, Hermann Bernhard G, Pavlova Anna, El-Maarri Osman, Nöthen Markus M, Ludwig Michael, Reutter Heiko, Hildebrandt Friedhe |
| No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2017 9 28 (5): 413-419. Dang Kien Xuan, Ho Tho, Sistonen Saara, Koivusalo Antti, Pakarinen Mikko, Rintala Risto, Stenman Ulf-Hakan, Orpana Arto, Stenman Jak |
| Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing. Gene 2018 4 661 182-188. Feng Yu, Chen Runsen, Da Min, Qian Bo, Mo Xumi |
| Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma. American journal of medical genetics. Part A 2018 11 176 (12): 2710-2719. Blackburn Patrick R, Chacon-Camacho Oscar F, Ortiz-González Xilma R, Reyes Mariana, Lopez-Uriarte Graciela A, Zarei Shabnam, Bhoj Elizabeth J, Perez-Solorzano Sofia, Vaubel Rachael A, Murphree Marine I, Nava Jessica, Cortes-Gonzalez Vianney, Parisi Joseph E, Villanueva-Mendoza Cristina, Tirado-Torres Iris G, Li Dong, Klee Eric W, Pichurin Pavel N, Zenteno Juan |
| Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? Cytogenetic and genome research 2019 7 158 (3): 121-125. Tumini Stefano, Alfonsi Melissa, Carinci Silvia, Morizio Elisena, Antonucci Ivana, Gatta Valentina, Lisi Gabriele, Lelli Chiesa Pierluigi, Calabrese Giuseppe, Stuppia Liborio, Palka Chia |
| A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in pediatrics 2020 7 8 310. van de Putte Romy, Dworschak Gabriel C, Brosens Erwin, Reutter Heiko M, Marcelis Carlo L M, Acuna-Hidalgo Rocio, Kurtas Nehir E, Steehouwer Marloes, Dunwoodie Sally L, Schmiedeke Eberhard, Märzheuser Stefanie, Schwarzer Nicole, Brooks Alice S, de Klein Annelies, Sloots Cornelius E J, Tibboel Dick, Brisighelli Giulia, Morandi Anna, Bedeschi Maria F, Bates Michael D, Levitt Marc A, Peña Alberto, de Blaauw Ivo, Roeleveld Nel, Brunner Han G, van Rooij Iris A L M, Hoischen Alexand |
| Novel candidate genes in esophageal atresia/tracheoesophageal fistula identified by exome sequencing. European journal of human genetics : EJHG 2020 7 29 (1): 122-130. Wang Jiayao, Ahimaz Priyanka R, Hashemifar Somaye, Khlevner Julie, Picoraro Joseph A, Middlesworth William, Elfiky Mahmoud M, Que Jianwen, Shen Yufeng, Chung Wendy |
| Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia. PloS one 2020 6 15 (6): e0234246. Zhang Rong, Gehlen Jan, Kawalia Amit, Melissari Maria-Theodora, Dakal Tikam Chand, Menon Athira M, Höfele Julia, Riedhammer Korbinian, Waffenschmidt Lea, Fabian Julia, Breuer Katinka, Kalanithy Jeshurun, Hilger Alina Christine, Sharma Amit, Hölscher Alice, Boemers Thomas M, Pauly Markus, Leutner Andreas, Fuchs Jörg, Seitz Guido, Ludwikowski Barbara M, Gomez Barbara, Hubertus Jochen, Heydweiller Andreas, Kurz Ralf, Leonhardt Johannes, Kosch Ferdinand, Holland-Cunz Stefan, Münsterer Oliver, Ure Beno, Schmiedeke Eberhard, Neser Jörg, Degenhardt Petra, Märzheuser Stefanie, Kleine Katharina, Schäfer Mattias, Spychalski Nicole, Deffaa Oliver J, Gosemann Jan-Hendrik, Lacher Martin, Heilmann-Heimbach Stefanie, Zwink Nadine, Jenetzky Ekkehart, Ludwig Michael, Grote Phillip, Schumacher Johannes, Thiele Holger, Reutter Hei |
| The association between polymorphisms in PITX2 and congenital esophageal atresia susceptibility. American journal of translational research 2021 13 (8): 9808-9813. Ke Jiangwei, Tao Junfeng, Chen Ku |
| Pharmacogenomics fail to explain proton pump inhibitor refractory esophagitis in pediatric esophageal atresia. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2021 Aug e14217. Yasuda Jessica L, Staffa Steven J, Nurko Samuel, Kane Madeline, Wall Stephanie, Mougey Edward B, Franciosi James P, Manfredi Michael A, Rosen Rach |
| Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association. Molecular syndromology 2021 1 11 (5-6): 271-283. Moreno Olga M, Sánchez Ana I, Herreño Angélica, Giraldo Gustavo, Suárez Fernando, Prieto Juan Carlos, Clavijo Ana Shaia, Olaya Mercedes, Vargas Yaris, Benítez Javier, Surallés Jordi, Rojas Adria |
| Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG advances 2022 7 3 (3): 100126. Zhong Guojie, Ahimaz Priyanka, Edwards Nicole A, Hagen Jacob J, Faure Christophe, Lu Qiao, Kingma Paul, Middlesworth William, Khlevner Julie, El Fiky Mahmoud, Schindel David, Fialkowski Elizabeth, Kashyap Adhish, Forlenza Sophia, Kenny Alan P, Zorn Aaron M, Shen Yufeng, Chung Wendy |
| Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas. HGG advances 2022 5 3 (3): 100107. Zhong Guojie, Ahimaz Priyanka, Edwards Nicole A, Hagen Jacob J, Faure Christophe, Lu Qiao, Kingma Paul, Middlesworth William, Khlevner Julie, El Fiky Mahmoud, Schindel David, Fialkowski Elizabeth, Kashyap Adhish, Forlenza Sophia, Kenny Alan P, Zorn Aaron M, Shen Yufeng, Chung Wendy |
| Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. Birth defects research 2022 4 114 (10): 478-486. Thiem Corina E, Stegmann Jil D, Hilger Alina C, Waffenschmidt Lea, Bendixen Charlotte, Köllges Ricarda, Schmiedeke Eberhard, Schäfer Frank-Mattias, Lacher Martin, Kosch Ferdinand, Grasshoff-Derr Sabine, Kabs Carmen, Neser Jörg, Jenetzky Ekkehart, Fazaal Julia, Schumacher Johannes, Hoefele Julia, Ludwig Kerstin U, Reutter Hei |
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
HGG advances 2022 2 3 (2): 100093. Gehlen Jan, Giel Ann-Sophie, Köllges Ricarda, Haas Stephan L, Zhang Rong, Trcka Jiri, Sungur Ayse Ö, Renziehausen Florian, Bornholdt Dorothea, Jung Daphne, Hoyer Paul D, Nordenskjöld Agneta, Tibboel Dick, Vlot John, Spaander Manon C W, Smigiel Robert, Patkowski Dariusz, Roeleveld Nel, van Rooij Iris Alm, de Blaauw Ivo, Hölscher Alice, Pauly Marcus, Leutner Andreas, Fuchs Joerg, Niethammer Joel, Melissari Maria-Theodora, Jenetzky Ekkehart, Zwink Nadine, Thiele Holger, Hilger Alina Christine, Hess Timo, Trautmann Jessica, Marks Matthias, Baumgarten Martin, Bläss Gaby, Landén Mikael, Fundin Bengt, Bulik Cynthia M, Pennimpede Tracie, Ludwig Michael, Ludwig Kerstin U, Mangold Elisabeth, Heilmann-Heimbach Stefanie, Moebus Susanne, Herrmann Bernhard G, Alsabeah Kristina, Burgos Carmen M, Lilja Helene E, Azodi Sahar, Stenström Pernilla, Arnbjörnsson Einar, Frybova Barbora, Lebensztejn Dariusz M, Debek Wojciech, Kolodziejczyk Elwira, Kozera Katarzyna, Kierkus Jaroslaw, Kalici?ski Piotr, Stefanowicz Marek, Socha-Banasiak Anna, Kolejwa Michal, Piaseczna-Piotrowska Anna, Czkwianianc Elzbieta, Nöthen Markus M, Grote Phillip, Rygl Michal, Reinshagen Konrad, Spychalski Nicole, Ludwikowski Barbara, Hubertus Jochen, Heydweiller Andreas, Ure Benno, Muensterer Oliver J, Aubert Ophelia, Gosemann Jan-Hendrik, Lacher Martin, Degenhardt Petra, Boemers Thomas M, Mokrowiecka Anna, Ma?ecka-Panas Ewa, Wöhr Markus, Knapp Michael, Seitz Guido, de Klein Annelies, Oracz Grzegorz, Brosens Erwin, Reutter Heiko, Schumacher Johann |
| Intrinsic Cellular Susceptibility to Barrett's Esophagus in Adults Born with Esophageal Atresia. Cancers 2022 2 14 (3): . Ten Kate Chantal A, de Klein Annelies, de Graaf Bianca M, Doukas Michail, Koivusalo Antti, Pakarinen Mikko P, van der Helm Robert, Brands Tom, IJsselstijn Hanneke, van Bever Yolande, Wijnen René M H, Spaander Manon C W, Brosens Erw |
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