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Micturition pattern in young boys with posterior urethral valves--A pilot study in small boys who are potty-trained from infancy.
Published in:
Iranian Journal of Otorhinolaryngology, 2013, v. 3, n. 4, p. 358, doi. 10.4236/ojped.2013.34064
By:
- Thi Hoa Duong;
- Holmdahl, Gundela;
- Nguyen, Duy Viet;
- Sillén, Ulla;
- Jansson, Ulla-Britt;
- Hellström, Anna-Lena
Publication type:
Article
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 378, doi. 10.1002/ajmg.a.63031
By:
- Nordenskjöld, Agneta;
- Arkani, Samara;
- Pettersson, Maria;
- Winberg, Johanna;
- Cao, Jia;
- Fossum, Magdalena;
- Anderberg, Magnus;
- Barker, Gillian;
- Holmdahl, Gundela;
- Lundin, Johanna
Publication type:
Article
ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Published in:
Scientific Reports, 2017, p. 42170, doi. 10.1038/srep42170
By:
- Zhang, Rong;
- Knapp, Michael;
- Suzuki, Kentaro;
- Kajioka, Daiki;
- Schmidt, Johanna M.;
- Winkler, Jonas;
- Yilmaz, Öznur;
- Pleschka, Michael;
- Cao, Jia;
- Kockum, Christina Clementson;
- Barker, Gillian;
- Holmdahl, Gundela;
- Beaman, Glenda;
- Keene, David;
- Woolf, Adrian S.;
- Cervellione, Raimondo M.;
- Cheng, Wei;
- Wilkins, Simon;
- Gearhart, John P.;
- Sirchia, Fabio
Publication type:
Article
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.
Published in:
2010
By:
- Nordenström, Anna;
- Frisén, Louise;
- Falhammar, Henrik;
- Filipsson, Helena;
- Holmdahl, Gundela;
- Janson, Per Olof;
- Thorén, Marja;
- Hagenfeldt, Kerstin;
- Nordenskjöld, Agneta
Publication type:
journal article
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.
Published in:
2009
By:
- Frisén, Louise;
- Nordenström, Anna;
- Falhammar, Henrik;
- Filipsson, Helena;
- Holmdahl, Gundela;
- Janson, Per Olof;
- Thorén, Marja;
- Hagenfeldt, Kerstin;
- Möller, Anders;
- Nordenskjöld, Agneta
Publication type:
journal article
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.
Published in:
2008
By:
- Nordenskjöld, Agneta;
- Holmdahl, Gundela;
- Frisén, Louise;
- Falhammar, Henrik;
- Filipsson, Helena;
- Thorén, Marja;
- Janson, Per Olof;
- Hagenfeldt, Kerstin
Publication type:
journal article
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.
Published in:
2007
By:
- Falhammar, Henrik;
- Filipsson, Helena;
- Holmdahl, Gundela;
- Janson, Per-Olof;
- Nordenskjöld, Agneta;
- Hagenfeldt, Kerstin;
- Thorén, Marja
Publication type:
journal article
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Published in:
2007
By:
- Falhammar, Henrik;
- Filipsson, Helena;
- Holmdahl, Gundela;
- Janson, Per-Olof;
- Nordenskjöld, Agneta;
- Hagenfeldt, Kerstin;
- Thorén, Marja
Publication type:
journal article
A qualitative content analysis of the experience of living with hypospadias: varying impact on identity and interpersonal relationships.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1459561
By:
- Phillips, Lottie;
- Dennermalm, Nicklas;
- Örtqvist, Lisa;
- Engberg, Hedvig;
- Holmdahl, Gundela;
- Fossum, Magdalena;
- Möller, Anders;
- Nordenskjöld, Agneta
Publication type:
Article
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.666
By:
- Lundin, Johanna;
- Markljung, Ellen;
- Baranowska Körberg, Izabella;
- Hofmeister, Wolfgang;
- Cao, Jia;
- Nilsson, Daniel;
- Holmdahl, Gundela;
- Barker, Gillian;
- Anderberg, Magnus;
- Vukojević, Vladana;
- Lindstrand, Anna;
- Nordenskjöld, Agneta
Publication type:
Article
Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function.
Published in:
BJU International, 2022, v. 129, n. 3, p. 394, doi. 10.1111/bju.15369
By:
- van de Grift, Tim C.;
- Rapp, Marion;
- Holmdahl, Gundela;
- Duranteau, Lise;
- Nordenskjold, Agneta;
- Kohler, Birgit;
- Neumann, Uta;
- Cohen‐Kettenis, Peggy;
- Kreukels, Baudewijntje;
- de Vries, Annelou;
- Arlt, Wiebke;
- Wiesemann, Claudia;
- Slowikowska‐Hilczer, Jolanta;
- Thyen, Ute;
- de la Perriere, Aude Brac;
- Sultan, Charles;
- Paris, Francoise;
- Reisch, Nicole;
- Richter‐Unruh, Annette;
- Claahsen–van der Grinten, Hedi
Publication type:
Article
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 18, p. 5069, doi. 10.1093/hmg/ddv225
By:
- Körberg, Izabella Baranowska;
- Hofmeister, Wolfgang;
- Markljung, Ellen;
- Jia Cao;
- Nilsson, Daniel;
- Ludwig, Michael;
- Draaken, Markus;
- Holmdahl, Gundela;
- Barker, Gillian;
- Reutter, Heiko;
- Vukojević, Vladana;
- Kockum, Christina Clementson;
- Lundin, Johanna;
- Lindstrand, Anna;
- Nordenskjöld, Agneta
Publication type:
Article
Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research.
Published in:
2019
By:
- Dellenmark-Blom, Michaela;
- Sjöström, Sofia;
- Abrahamsson, Kate;
- Holmdahl, Gundela
Publication type:
journal article
Psychiatric symptoms in men with hypospadias - preliminary results of a cross-sectional cohort study.
Published in:
2019
By:
- Strandqvist, Anna;
- Örtqvist, Lisa;
- Nordenskjöld, Agneta;
- Nordenström, Anna;
- Engberg, Hedvig;
- Frisén, Louise;
- Holmdahl, Gundela
Publication type:
journal article

Found: 14