A qualitative content analysis of the experience of living with hypospadias: varying impact on identity and interpersonal relationships

Authors: Lottie Phillips, Nicklas Dennermalm, Lisa Örtqvist, Hedvig Engberg, Gundela Holmdahl, Magdalena Fossum, Anders Möller, Agneta Nordenskjöld

Source: Frontiers in Pediatrics, Vol 12 (2024)

Subject Terms: hypospadias, qualitative content analysis, in-depth interview, patient perspective, disorders of sex development, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1459561/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/2cab49ff3bd74949b3ca9377be617452

Risk of Urological Cancer Among Boys and Men Born with Hypospadias: A Swedish Population-based Study

Authors: Lottie Phillips, Cecilia Lundholm, Catarina Almqvist, Anna Skarin Nordenvall, Agneta Nordenskjöld

Source: European Urology Open Science, Vol 57, Iss , Pp 51-59 (2023)

Subject Terms: Cancer, Cohort design, Hypospadias, Urology, Diseases of the genitourinary system. Urology, RC870-923, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666168323010819; https://doaj.org/toc/2666-1683

Access URL: https://doaj.org/article/2c80829f54874e97ac5d5fd766d7c504

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

Authors: Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

Source: Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2399-3642

Access URL: https://doaj.org/article/3185cad232344b7081367260f4859843

A qualitative content analysis of the experience of hypospadias care: The importance of owning your own narrative

Authors: Lottie Phillips, Nicklas Dennermalm, Lisa Örtqvist, Hedvig Engberg, Gundela Holmdahl, Magdalena Fossum, Anders Möller, Agneta Nordenskjöld

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: hypospadias, patient perspective, disorders of sexual development (DSD), in-depth interview, qualitative content analysis, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1118586/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/bfe59f2c9a994cc5824ebc639eea57c0

Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study

Authors: Hanna Björlin Avdic, Agnieszka Butwicka, Anna Nordenström, Catarina Almqvist, Agneta Nordenskjöld, Hedvig Engberg, Louise Frisén

Source: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-9 (2021)

Subject Terms: Turner syndrome, Psychiatric disorder, Neurodevelopmental disorder, ADHD, Autism spectrum disorder, Anxiety, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://doaj.org/toc/1866-1947; https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/405e4349ed4a461ca509a155cf522178

First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

Authors: Jan Gehlen, Ann-Sophie Giel, Ricarda Köllges, Stephan L. Haas, Rong Zhang, Jiri Trcka, Ayse Ö. Sungur, Florian Renziehausen, Dorothea Bornholdt, Daphne Jung, Paul D. Hoyer, Agneta Nordenskjöld, Dick Tibboel, John Vlot, Manon C.W. Spaander, Robert Smigiel, Dariusz Patkowski, Nel Roeleveld, Iris ALM. van Rooij, Ivo de Blaauw, Alice Hölscher, Marcus Pauly, Andreas Leutner, Joerg Fuchs, Joel Niethammer, Maria-Theodora Melissari, Ekkehart Jenetzky, Nadine Zwink, Holger Thiele, Alina Christine Hilger, Timo Hess, Jessica Trautmann, Matthias Marks, Martin Baumgarten, Gaby Bläss, Mikael Landén, Bengt Fundin, Cynthia M. Bulik, Tracie Pennimpede, Michael Ludwig, Kerstin U. Ludwig, Elisabeth Mangold, Stefanie Heilmann-Heimbach, Susanne Moebus, Bernhard G. Herrmann, Kristina Alsabeah, Carmen M. Burgos, Helene E. Lilja, Sahar Azodi, Pernilla Stenström, Einar Arnbjörnsson, Barbora Frybova, Dariusz M. Lebensztejn, Wojciech Debek, Elwira Kolodziejczyk, Katarzyna Kozera, Jaroslaw Kierkus, Piotr Kaliciński, Marek Stefanowicz, Anna Socha-Banasiak, Michal Kolejwa, Anna Piaseczna-Piotrowska, Elzbieta Czkwianianc, Markus M. Nöthen, Phillip Grote, Michal Rygl, Konrad Reinshagen, Nicole Spychalski, Barbara Ludwikowski, Jochen Hubertus, Andreas Heydweiller, Benno Ure, Oliver J. Muensterer, Ophelia Aubert, Jan-Hendrik Gosemann, Martin Lacher, Petra Degenhardt, Thomas M. Boemers, Anna Mokrowiecka, Ewa Małecka-Panas, Markus Wöhr, Michael Knapp, Guido Seitz, Annelies de Klein, Grzegorz Oracz, Erwin Brosens, Heiko Reutter, Johannes Schumacher

Source: HGG Advances, Vol 3, Iss 2, Pp 100093- (2022)

Subject Terms: genome-wide association study (GWAS), esophageal atresia (EA), multifactorial diseases, CTNNA3, FOXF1/FOXC2/FOXL1, HNF1B, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000094; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/e9a5e2a8eb8e4559958fd4286f773ad1

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Authors: Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Alina C. Hilger, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Benjamin Odermatt, Heiko Reutter

Source: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

Subject Terms: SLC20A1, urinary tract development, kidney formation, zebrafish development, cloacal malformation, functional genetics, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fcell.2020.00567/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/9c651c06182b43e58e089d5b84ebbebc

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

Authors: Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehrén, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

Subject Terms: anorectal malformations, array‐CGH, copy number variation, esophageal atresia, hydronephrosis, mosaicism, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/76332acb74b144faaa2979a8badaa4a0

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Authors: Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld

Source: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)

Subject Terms: array‐CGH, bladder exstrophy, confocal microscopy, exome sequencing, fluorescence spectrometry, LZTR1, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/b1a8ced4172c406cb13c4b3a7225eb0e

Current models of care for disorders of sex development – results from an International survey of specialist centres

Authors: Andreas Kyriakou, Arianne Dessens, Jillian Bryce, Violeta Iotova, Anders Juul, Maciej Krawczynski, Agneta Nordenskjöld, Marta Rozas, Caroline Sanders, Olaf Hiort, S. Faisal Ahmed

Source: Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-10 (2016)

Subject Terms: Disorders of sex development, Rare diseases, Multidisciplinary team, Clinical networks, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-016-0534-8; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d9ce54048d474bb096c5014a3032b14b

Psychosocial outcomes in adult men born with hypospadias: A register-based study.

Authors: Anna Skarin Nordenvall, Christina Norrby, Agnieszka Butwicka, Louise Frisén, Anna Nordenström, Catarina Almqvist, Agneta Nordenskjöld

Source: PLoS ONE, Vol 12, Iss 4, p e0174923 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5383134?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/850c2305ebaf41f18e7c0ba6252600ee

Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study.

Authors: Philip K Frykman, Agneta Nordenskjöld, Akemi Kawaguchi, Thomas T Hui, Anna L Granström, Zhi Cheng, Jie Tang, David M Underhill, Iliyan Iliev, Vince A Funari, Tomas Wester, HAEC Collaborative Research Group (HCRG)

Source: PLoS ONE, Vol 10, Iss 4, p e0124172 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4409062?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/197b2fe27f244134ad94421d6611f459

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

Authors: Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld

Source: PLoS ONE, Vol 9, Iss 1, p e85313 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3887047?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/be03f2e64237499597fc781bc3a38ebc

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