Agneta Nordenskjöld

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About me

Agneta Nordenskjöld was appointed Professor of Paediatric Surgery at Karolinska Institutet in 2008. Her research is about trying to understand why congenital malformations occur at a molecular level. In particular, she focuses her research on bladder exstrophy (when the child is born with an open urinary bladder) and on disorders of sex development, such as hypospadias (malformed urethra in boys) and unclear sex at birth.

Articles

Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2024;34(03):228-235
Intestinal Malrotation in Children: Clinical Presentation and Outcomes
Karlslatt KS; Husberg B; Ullberg U; Nordenskjold A; Wester T
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2024;109(3):e1175-e1184
Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-based Cohort Study
Falhammar H; Hirschberg AL; Nordenskjold A; Larsson H; Nordenstrom A
Article: EUROPEAN UROLOGY OPEN SCIENCE. 2023;57:51-59
Risk of Urological Cancer Among Boys and Men Born with Hypospadias: A Swedish Population-based Study
Phillips L; Lundholm C; Almqvist C; Nordenvall AS; Nordenskjold A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
Nordenskjold A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2023;191(2):378-390
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Nordenskjold A; Arkani S; Pettersson M; Winberg J; Cao J; Fossum M; Anderberg M; Barker G; Holmdahl G; Lundin J
Article: FRONTIERS IN PEDIATRICS. 2023;11:1118586
A qualitative content analysis of the experience of hypospadias care: The importance of owning your own narrative
Phillips L; Dennermalm N; Ortqvist L; Engberg H; Holmdahl G; Fossum M; Moller A; Nordenskjold A
Article: COMMUNICATIONS BIOLOGY. 2022;5(1):1203
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy
Mingardo E; Beaman G; Grote P; Nordenskjold A; Newman W; Woolf AS; Eckstein M; Hilger AC; Dworschak GC; Roesch W; Ebert A-K; Stein R; Brusco A; Di Grazia M; Tamer A; Torres FM; Hernandez JL; Erben P; Maj C; Olmos JM; Riancho JA; Valero C; Hostettler IC; Houlden H; Werring DJ; Schumacher J; Gehlen J; Giel A-S; Buerfent BC; Arkani S; Akesson E; Rotstein E; Ludwig M; Holmdahl G; Giorgio E; Berettini A; Keene D; Cervellione RM; Younsi N; Ortlieb M; Oswald J; Haid B; Promm M; Neissner C; Hirsch K; Stehr M; Schafer F-M; Schmiedeke E; Boemers TM; van Rooij IALM; Feitz WFJ; Marcelis CLM; Lacher M; Nelson J; Ure B; Fortmann C; Gale DP; Chan MMY; Ludwig KU; Noethen MM; Heilmann S; Zwink N; Jenetzky E; Odermatt B; Knapp M; Reutter H
Article: ANDROLOGY. 2022;10(7):1376-1386
Increased androgen-related comorbidity in adolescents and adults born with hypospadias: A population-based study
Phillips L; Lundholm C; Kvist U; Almqvist C; Nordenskjold A; Nordenvall AS
Article: JOURNAL OF CLINICAL MEDICINE. 2022;11(15):4629
Long-Term Results of Surgical Treatment and Patient-Reported Outcomes in Congenital Adrenal Hyperplasia-A Multicenter European Registry Study
Krege S; Falhammar H; Lax H; Roehle R; Claahsen-van der Grinten H; Kortmann B; Duranteau L; Nordenskjold A
Article: HGG ADVANCES. 2022;3(2):100093
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
Gehlen J; Giel A-S; Koellges R; Haas SL; Zhang R; Trcka J; Sungur AO; Renziehausen F; Bornholdt D; Jung D; Hoyer PD; Nordenskjold A; Tibboel D; Vlot J; Spaander MCW; Smigiel R; Patkowski D; Roeleveld N; van Rooij IA; de Blaauw I; Hoelscher A; Pauly M; Leutner A; Fuchs J; Niethammer J; Melissari M-T; Jenetzky E; Zwink N; Thiele H; Hilger AC; Hess T; Trautmann J; Marks M; Baumgarten M; Blaess G; Landen 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; Stenstrom P; Arnbjornsson E; Frybova B; Lebensztejn DM; Debek W; Kolodziejczyk E; Kozera K; Kierkus J; Kalicinski P; Stefanowicz M; Socha-Banasiak A; Kolejwa M; Piaseczna-Piotrowska A; Czkwianianc E; Noethen MM; Grote P; Rygl M; Reinshagen K; Spychalski N; Ludwikowski B; Hubertus J; Heydweiller A; Ure B; Muensterer OJ; Aubert O; Gosemann J-H; Lacher M; Degenhardt P; Boemers TM; Mokrowiecka A; Malecka-Panas E; Woehr M; Knapp M; Seitz G; de Klein A; Oracz G; Brosens E; Reutter H; Schumacher J
Article: BJU INTERNATIONAL. 2022;129(3):394-405
Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function
van de Grift TC; Rapp M; Holmdahl G; Duranteau L; Nordenskjold A
Journal article: JOURNAL OF SEXUAL MEDICINE. 2022;19(2):249-256
Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function
Engberg H; Strandqvist A; Berg E; Nordenskjold A; Nordenstrom A; Frisen L; Hirschberg AL
Article: JOURNAL OF SEXUAL MEDICINE. 2022;19(2):249-256
Sexual Function in Women With Differences of Sex Development or Premature Loss of Gonadal Function.
Engberg H; Strandqvist A; Berg E; Nordenskjöld A; Nordenström A; Frisén L; Hirschberg AL
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2022;107(2):e475-e486
Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study
Falhammar H; Frisen L; Hirschberg AL; Nordenskjold A; Almqvist C; Nordenstrom A
Article: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 2021;13(1):51
Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study
Avdic HB; Butwicka A; Nordenstrom A; Almqvist C; Nordenskjold A; Engberg H; Frisen L
Article: LAKARTIDNINGEN. 2021;118:21077
[On micropenis, diagnosis and differential diagnoses].
Nordenskjöld A; Nordenström A; Holmdahl G
Article: JOURNAL OF PEDIATRIC UROLOGY. 2021;17(3):353-365
Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)
Rapp M; Duranteau L; Grift TCVD; Schober J; Hirschberg AL; Krege S; Nordenstrom A; Roehle R; Thyen U; Bouvattier C; Kreukels BPC; Nordenskjold A
Article: ANDROLOGY. 2021;9(3):810-816
Fertility in men with hypospadias: A nationwide register-based study using dizygotic twinning rates as an indicator of semen quality
Phillips L; Lundholm C; Ortqvist L; Almqvist C; Nordenskjold A; Skarin Nordenvall A
Article: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY. 2021;34(2):168-175
Participant- and Clinician-Reported Long-Term Outcomes After Surgery in Individuals with Complete Androgen Insensitivity Syndrome
Duranteau L; Rapp M; van de Grift TC; Hirschberg AL; Nordenskjold A
Article: ARCHIVES OF SEXUAL BEHAVIOR. 2021;50(3):913-923
Early Genital Surgery in Disorders/Differences of Sex Development: Patients' Perspectives
Bennecke E; Bernstein S; Lee P; van de Grift TC; Nordenskjold A; Rapp M; Simmonds M; Streuli JC; Thyen U; Wiesemann C
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2021;106(2):e957-e965
Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study
Hirschberg AL; Gidlof S; Falhammar H; Frisen L; Almqvist C; Nordenskjold A; Nordenstrom A
Article: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY. 2020;33(5):470-476
Identity, Sexuality, and Parenthood in Women with Congenital Adrenal Hyperplasia
Engberg H; Moller A; Hagenfeldt K; Nordenskjold A; Frisen L
Article: ANDROLOGY. 2020;8(2):372-380
Fertility in adult men born with hypospadias: A nationwide register-based cohort study on birthrates, the use of assisted reproductive technologies and infertility
Nordenvall AS; Chen Q; Norrby C; Lundholm C; Frisen L; Nordenstrom A; Almqvist C; Nordenskjold A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084
Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations
Winberg J; Gustavsson P; Sahlin E; Larsson M; Ehren H; Fossum M; Wester T; Nordgren A; Nordenskjold A
Article: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 2020;8:567
SLC20A1Is Involved in Urinary Tract and Urorectal Development
Rieke JM; Zhang R; Braun D; Yilmaz O; Japp AS; Lopes FM; Pleschka M; Hilger AC; Schneider S; Newman WG; Beaman GM; Nordenskjoeld A; Ebert A-K; Promm M; Roesch WH; Stein R; Hirsch K; Schaefer F-M; Schmiedeke E; Boemers TM; Lacher M; Kluth D; Gosemann J-H; Anderberg M; Barker G; Holmdahl G; Laeckgren G; Keene D; Cervellione RM; Giorgio E; Di Grazia M; Feitz WFJ; Marcelis CLM; Van Rooij IALM; Boekenkamp A; Beckers GMA; Keegan CE; Sharma A; Dakal TC; Wittler L; Grote P; Zwink N; Jenetzky E; Brusco A; Thiele H; Ludwig M; Schweizer U; Woolf AS; Odermatt B; Reutter H
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2019;104(12):6148-6154
Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study
Nordenstrom A; Svensson J; Lajic S; Frisen L; Nordenskjold A; Norrby C; Almqvist C; Falhammar H
Article: JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. 2019;69(2):176-181
Inflammatory Bowel Disease Serological Immune Markers Anti-Saccharomyces cerevisiae Mannan Antibodies and Outer Membrane Porin C are Potential Biomarkers for Hirschsprung-associated Enterocolitis
Frykman PK; Patel DC; Kim S; Cheng Z; Wester T; Nordenskjold A; Kawaguchi A; Hui TT; Ehrlich PF; Granstrom AL; Benliyan F
Article: CLINICAL ENDOCRINOLOGY. 2019;91(1):219-227
Voice dissatisfaction in individuals with a disorder of sex development
Nygren U; Sodersten M; Thyen U; Kohler B; Nordenskjold A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene
Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2019;108(6):1156-1162
Psychiatric symptoms in men with hypospadias - preliminary results of a cross-sectional cohort study
Ortqvist L; Engberg H; Strandqvist A; Nordenstrom A; Holmdahl G; Nordenskjold A; Frisen L
Article: JOURNAL OF THE ENDOCRINE SOCIETY. 2019;3(5):1039-1052
Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study
Falhammar H; Frisen L; Hirschberg AL; Nordenskjold A; Almqvist C; Nordenstrom A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(4):229-234
Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant
Virtanen VB; Salo PP; Gao J; Lof-Granstrom A; Milani L; Metspalu A; Rintala RJ; Saarenpaa-Heikkila O; Pauni T; Wester T; Nordenskjold A; Perola M; Pakarinen MP
Article: HORMONES AND BEHAVIOR. 2019;109:64-70
No difference in cognitive performance or gender role behavior between men with and without hypospadias
Strandqvist A; Ortqvist L; Frisen L; Nordenskjold A; Herlitz A; Nordenstrom A
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation
Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
Article: HUMAN MOLECULAR GENETICS. 2019;28(2):332-340
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
Fadista J; Skotte L; Geller F; Bybjerg-Grauholm J; Gortz S; Romitti PA; Caggana M; Kay DM; Matsson H; Boyd HA; Hougaard DM; Nordenskjold A; Mills JL; Melbye M; Feenstra B
Article: JOURNAL OF UROLOGY. 2018;200(6):1362-1370
Psychosocial and Sexual Outcomes in Adolescents following Surgery for Proximal Hypospadias in Childhood
Andersson M; Sjostrom S; Wangqvist M; Ortqvist L; Nordenskjold A; Holmdahl G
Article: PSYCHONEUROENDOCRINOLOGY. 2018;98:233-241
Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis
Strandqvist A; Herlitz A; Nordenskjold A; Ortqvist L; Frisen L; Hirschberg AL; Nordenstrom A
Article: JOURNAL OF PEDIATRIC SURGERY. 2018;53(4):708-717
Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: A multicenter study of 116 children with Hirschsprung disease
Frykman PK; Kim S; Wester T; Nordenskjold A; Kawaguchi A; Hui TT; Teitelbaum DH; Granstrom AL; Rogatko A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26(4):561-569
Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus
Fadista J; Lund M; Skotte L; Geller F; Nandakumar P; Chatterjee S; Matsson H; Granstrom AL; Wester T; Salo P; Virtanen V; Carstensen L; Bybjerg-Grauholm J; Hougaard DM; Pakarinen M; Perola M; Nordenskjold A; Chakravarti A; Melbye M; Feenstra B
Article: JOURNAL OF TISSUE ENGINEERING AND REGENERATIVE MEDICINE. 2018;12(2):E720-E726
Study on genetic stability in human urothelial cells in vitro
Chamorro CI; Zeiai S; Engberg GR; Brodin D; Lundin J; Nordenskjold A; Fossum M
Article: HUMAN GENOME VARIATION. 2018;5:18009
Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort
Arkani S; Cao J; Lundin J; Nilsson D; Kallman T; Barker G; Holmdahl G; Kockum CC; Matsson H; Nordenskjold A
Article: SEXUAL DEVELOPMENT. 2018;12(5):225-231
Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop
Sanders C; Hall J; Sanders C; Dessens A; Bryce J; Callens N; Cools M; Kourime M; Kyriakou A; Springer A; Audi L; Balsamo A; Iotova V; Mladenov V; Krawczynski M; Nordenskjold A; Rozas M; Claahsen-van der Grinten H; Hiort O; Riedl S; Ahmed SF
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(11):4191-4199
Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study
Falhammar H; Frisen L; Norrby C; Almqvist C; Hirschberg AL; Nordenskjold A; Nordenstrom A
Article: JOURNAL OF PSYCHOSOMATIC RESEARCH. 2017;101:122-127
Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis
Engberg H; Strandqvist A; Nordenstrom A; Butvvicka A; Nordenskjold A; Hirschberg AL; Frisen L
Article: ANDROLOGY. 2017;5(2):286-293
Sexuality and fertility in men with hypospadias; improved outcome
Ortqvist L; Fossum M; Andersson M; Nordenstrom A; Frisen L; Holmdahl G; Nordenskjold A
Article: CLINICAL ENDOCRINOLOGY. 2017;86(3):317-324
Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study.
Nordenström A; Butwicka A; Lindén Hirschberg A; Almqvist C; Nordenskjöld A; Falhammar H; Frisén L
Article: SCIENTIFIC REPORTS. 2017;7:42170
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 O; 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 A-K; Roesch W; Ellinger J; Jenetzky E; Zwink N; Feitz WF; Marcelis C; Schumacher J; Martinon-Torres F; Hibberd ML; Khor CC; Heilmann-Heimbach S; Barth S; Boyadjiev SA; Brusco A; Ludwig M; Newman W; Nordenskjold A; Yamada G; Odermatt B; Reutter H
Article: JOURNAL OF PEDIATRIC UROLOGY. 2017;13(1):79.e1-79.e7
Psychosocial outcome in adult men born with hypospadias
Ortqvist L; Andersson M; Strandqvist A; Nordenstrom A; Frisen L; Holmdahl G; Nordenskjold A
Article: BMJ PAEDIATRICS OPEN. 2017;1(1):e000132
Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development
Dessens A; Guaragna-Filho G; Kyriakou A; Bryce J; Sanders C; Nordenskjold A; Rozas M; Iotova V; Ediati A; Juul A; Krawczynski M; Hiort O; Ahmed SF
Article: PLOS ONE. 2017;12(4):e0174923
Psychosocial outcomes in adult men born with hypospadias: A register-based study
Nordenvall AS; Norrby C; Butwicka A; Frisen L; Nordenstrom A; Almqvist C; Nordenskjold A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2016;105(12):1508-1512
Population-based study shows that Hirschsprung disease does not have a negative impact on education and income
Granstrom AL; Svenningsson A; Nordenskjold A; Wester T
Article: ORPHANET JOURNAL OF RARE DISEASES. 2016;11(1):155
Current models of care for disorders of sex development - results from an International survey of specialist centres
Kyriakou A; Dessens A; Bryce J; Iotova V; Juul A; Krawczynski M; Nordenskjold A; Rozas M; Sanders C; Hiort O; Ahmed SF
Article: JOURNAL OF VOICE. 2016;30(6):766.e23-766.e34
Effects on Voice Fundamental Frequency and Satisfaction with Voice in Trans Men during Testosterone Treatment-A Longitudinal Study
Nygren U; Nordenskjold A; Arver S; Sodersten M
Article: JOURNAL OF PEDIATRIC UROLOGY. 2016;12(5):304.e1-304.e7
Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study
Engberg GR; Mantel A; Fossum M; Nordenskjold A
Article: JOURNAL OF UROLOGY. 2016;196(4):1244-1249
Advantages of Reduced Prophylaxis after Tubularized Incised Plate Repair of Hypospadias
Zeiai S; Nordenskjold A; Fossum M
Article: JOURNAL OF SPEECH, LANGUAGE AND HEARING RESEARCH. 2016;59(4):713-721
Magnetic Resonance Imaging of the Vocal Folds in Women With Congenital Adrenal Hyperplasia and Virilized Voices
Nygren U; Isberg B; Arver S; Hertegard S; Sodersten M; Nordenskjold A
Article: PEDIATRICS. 2016;138(1):e20154608
Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease
Granstrom AL; Svenningsson A; Hagel E; Oddsberg J; Nordenskjold A; Wester T
Article: CLINICAL ENDOCRINOLOGY. 2016;85(1):21-28
The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given
Engberg H; Moller A; Hagenfeldt K; Nordenskjold A; Frisen L
Article: JOURNAL OF NEUROLOGY. 2016;263(4):703-706
Hypospadias as a novel feature in spinal bulbar muscle atrophy.
Nordenvall AS; Paucar M; Almqvist C; Nordenström A; Frisén L; Nordenskjöld A
Article: BIOMED RESEARCH INTERNATIONAL. 2016;2016:5415012-9
Expansion of Submucosal Bladder Wall Tissue In Vitro and In Vivo
Engberg GR; Chamorro CI; Nordenskjold A; Fossum M
Article: SPRINGERPLUS. 2016;5:245
Congenital intestinal malrotation in adolescent and adult patients: a 12-year clinical and radiological survey
Husberg B; Salehi K; Peters T; Gunnarsson U; Michanek M; Nordenskjold A; Strigard K
Article: JOURNAL OF PEDIATRIC SURGERY. 2016;51(1):81-86
Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis
Demehri FR; Frykman PK; Cheng Z; Ruan C; Wester T; Nordenskjold A; Kawaguchi A; Hui TT; Granstrom AL; Funari V; Teitelbaum DH
Article: JOURNAL OF PEDIATRIC SURGERY. 2015;50(11):1865-1869
Adult outcomes after surgery for Hirschsprung's disease: Evaluation of bowel function and quality of life
Granstrom AL; Danielson J; Husberg B; Nordenskjold A; Wester T
Article: JOURNAL OF PEDIATRIC SURGERY. 2015;50(11):1870-1873
Risk of venous thromboembolism in children after general surgery
Humes DJ; Nordenskjold A; Walker AJ; West J; Ludvigsson JF
Article: PSYCHIATRY RESEARCH. 2015;229(3):953-959
Congenital Adrenal Hyperplasia, Polycystic Ovary Syndrome and criminal behavior: A Swedish population based study
Gotby AO; Nordenstrom A; Falhammar H; Nordenskjold A; Hirschberg AL; Frisen L; Landen M; Lichtenstein P
Article: HUMAN REPRODUCTION. 2015;30(10):2439-2451
Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions
Barthold JS; Wang Y; Kolon TF; Kollin C; Nordenskjold A; Fisher AO; Figueroa TE; BaniHani AH; Hagerty JA; Gonzalez R; Noh PH; Chiavacci RM; Harden KR; Abrams DJ; Kim CE; Li J; Hakonarson H; Devoto M
Article: PSYCHONEUROENDOCRINOLOGY. 2015;60:195-205
Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study
Engberg H; Butwicka A; Nordenstrom A; Hirschberg AL; Falhammar H; Lichtenstein P; Nordenskjold A; Frisen L; Landen M
Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
Korberg IB; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojevic V; Kockum CC; Lundin J; Lindstrand A; Nordenskjold A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2015;100(9):3520-3528
Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.
Falhammar H; Frisén L; Hirschberg AL; Norrby C; Almqvist C; Nordenskjöld A; Nordenström A
Article: JOURNAL OF UROLOGY. 2015;193(5):1637-1645
Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism
Barthold JS; Wang Y; Kolon TF; Kollin C; Nordenskjoeld A; Fisher AO; Figueroa TE; BaniHani AH; Hagerty JA; Gonzalez R; Noh PH; Chiavacci RM; Harden KR; Abrams DJ; Kim CE; Mateson AB; Robbins AK; Li J; Akins REJ; Hakonarson H; Devoto M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(4):516-522
Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Soderhall C; Korberg IB; Thai HTT; Cao J; Chen Y; Zhang X; Zu S; van der Zanden LFM; van Rooij IALM; Frisen L; Roeleveld N; Markljung E; Kockum I; Nordenskjold A
Article: JOURNAL OF UROLOGY. 2015;193(3):975-981
Long-Term Followup of Men Born with Hypospadias: Urological and Cosmetic Results
Ortqvist L; Fossum M; Andersson M; Nordenstrom A; Frisen L; Holmdahl G; Nordenskjold A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133
No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations
Winberg J; Berggren H; Malm T; Johansson S; Ramgren JJ; Nilsson B; Lieden A; Nordenskjold A; Gustavsson P; Nordgren A
Article: TISSUE ENGINEERING - PART A.. 2015;21(3-4):510-517
A Study on Proliferation and Gene Expression in Normal Human Urothelial Cells in Culture
Chamorro CI; Zeiai S; Reinfeldt Engberg G; Brodin D; Nordenskjold A; Fossum M
Article: JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY. 2015;56(2):155-161
Hypospadias and increased risk for neurodevelopmental disorders.
Butwicka A; Lichtenstein P; Landén M; Nordenvall AS; Nordenström A; Nordenskjöld A; Frisén L
Article: PLOS ONE. 2015;10(4):e0124172
Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study
Frykman PK; Nordenskojld A; Kawaguchi A; Hui TT; Granstrom AL; Cheng Z; Tang J; Underhill DM; Iliev I; Funari VA; Wester T
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2014;99(12):E2715-E2721
Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Falhammar H; Frisén L; Norrby C; Hirschberg AL; Almqvist C; Nordenskjöld A; Nordenström A
Article: HUMAN MOLECULAR GENETICS. 2014;23(20):5536-5544
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
Reutter H; Draaken M; Pennimpede T; Wittler L; Brockschmidt FF; Ebert A-K; Bartels E; Roesch W; Boemers TM; Hirsch K; Schmiedeke E; Meesters C; Becker T; Stein R; Utsch B; Mangold E; Nordenskjoeld A; Barker G; Kockum CC; Zwink N; Holmdahl G; Laeckgren G; Jenetzky E; Feitz WFJ; Marcelis C; Wijers CHW; Van Rooij IALM; Gearhart JP; Herrmann BG; Ludwig M; Boyadjiev SA; Noethen MM; Mattheisen M
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg H-E; Cattini PA; Nordenskjöld A; Mäkitie O; Grigelioniene G; Nordgren A
Article: NATURE GENETICS. 2014;46(9):957-963
Genome-wide association analyses identify variants in developmental genes associated with hypospadias
Geller F; Feenstra B; Carstensen L; Pers TH; van Rooij IALM; Korberg IB; Choudhry S; Karjalainen JM; Schnack TH; Hollegaard MV; Feitz WFJ; Roeleveld N; Hougaard DM; Hirschhorn JN; Franke L; Baskin LS; Nordenskjold A; van der Zanden LFM; Melbye M
Article: JOURNAL OF PEDIATRIC SURGERY. 2014;49(8):1226-1231
Maternal and pregnancy characteristics and risk of infantile hypertrophic pyloric stenosis
Svenningsson A; Svensson T; Akre O; Nordenskjold A
Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2014;24(4):353-359
A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
Soderhall C; Lundin J; Lagerstedt-Robinson K; Grigelioniene G; Lackgren G; Kockum CC; Nordenskjold A
Article: JOURNAL OF THE ROYAL SOCIETY INTERFACE. 2014;11(96):20140233
Transdifferentiation of autologous bone marrow cells on a collagen-poly(ε-caprolactone) scaffold for tissue engineering in complete lack of native urothelium
Zhao J; Zeiai S; Ekblad A; Nordenskjold A; Hilborn J; Gotherstrom C; Fossum M
Article: BIRTH DEFECTS RESEARCH. 2014;100(6):512-517
Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region
Draaken M; Baudisch F; Timmermann B; Kuhl H; Kerick M; Proske J; Wittler L; Pennimpede T; Ebert A-K; Roesch W; Stein R; Bartels E; von Lowtzow C; Boemers TM; Herms S; Gearhart JP; Lakshmanan Y; Kockum CC; Holmdahl G; Lackgren G; Nordenskjold A; Boyadjiev SA; Herrmann BG; Noethen MM; Ludwig M; Reutter H
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2014;99(4):1425-1432
Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.
Strandqvist A; Falhammar H; Lichtenstein P; Hirschberg AL; Wedell A; Norrby C; Nordenskjöld A; Frisén L; Nordenström A
Article: JOURNAL OF PEDIATRIC SURGERY. 2014;49(4):622-625
A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with Multiple Sclerosis
Granstrom AL; Markljung E; Fink K; Nordenskjold E; Nilsson D; Wester T; Nordenskjold A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2014;99(3):E554-E560
Increased Psychiatric Morbidity in Men With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Falhammar H; Butwicka A; Landen M; Lichtenstein P; Nordenskjold A; Nordenstrom A; Frisen L
Article: JOURNAL OF UROLOGY. 2014;191(3):783-789
Population Based Nationwide Study of Hypospadias in Sweden, 1973 to 2009: Incidence and Risk Factors
Nordenvall AS; Frisen L; Nordenstrom A; Lichtenstein P; Nordenskjold A
Article: PLOS ONE. 2014;9(1):e85313
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
Winberg J; Gustavsson P; Papadogiannakis N; Sahlin E; Bradley F; Nordenskjold E; Svensson P-J; Anneren G; Iwarsson E; Nordgren A; Nordenskjold A
Article: CLINICAL ENDOCRINOLOGY. 2013;79(6):859-866
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Nygren U; Nystrom HF; Falhammar H; Hagenfeldt K; Nordenskjold A; Soedersten M
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T; Lundin J; Anderlid B-M; Gorski JL; Grigelioniene G; Knight SJL; Krepischi ACV; Nordenskjold A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (JAMA). 2013;310(7):714-721
Plasma Lipids, Genetic Variants Near APOA1, and the Risk of Infantile Hypertrophic Pyloric Stenosis
Feenstra B; Geller F; Carstensen L; Romitti PA; Korberg IB; Bedell B; Krogh C; Fan R; Svenningsson A; Caggana M; Nordenskjold A; Mills JL; Murray JC; Melbye M
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1284-1290
Partial Tetrasomy 14 Associated With Multiple Malformations
Winberg J; Robinson KL; Naess K; Lesko N; Wibom R; Lieden A; Anderlid B-M; Graff C; Nordenskjoeld A; Nordgren A; Gustavsson P
Article: BMC GASTROENTEROLOGY. 2013;13:89
A large nationwide population-based case-control study of the association between intussusception and later celiac disease
Ludvigsson JF; Nordenskjold A; Murray JA; Olen O
Article: PEDIATRICS. 2013;131(4):e1174-e1180
Growth of Spontaneously Descended and Surgically Treated Testes During Early Childhood
Kollin C; Granholm T; Nordenskjold A; Ritzen EM
Article: SEXUAL DEVELOPMENT. 2013;7(4):173-179
Association of a Tagging Single Nucleotide Polymorphism in the Androgen Receptor Gene Region with Susceptibility to Severe Hypospadias in a Caucasian Population
Adamovic T; Thai HTT; Lieden A; Nordenskjold A
Article: BIOMED RESEARCH INTERNATIONAL. 2013;2013:212734-10
Transplantation of Autologous Minced Bladder Mucosa for a One-Step Reconstruction of a Tissue Engineered Bladder Conduit
Engberg GR; Lundberg J; Chamorro CI; Nordenskjold A; Fossum M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2012;97(12):4588-4595
Boys with Undescended Testes: Endocrine, Volumetric and Morphometric Studies on Testicular Function before and after Orchidopexy at Nine Months or Three Years of Age
Kollin C; Stukenborg JB; Nurmio M; Sundqvist E; Gustafsson T; Soder O; Toppari J; Nordenskjold A; Ritze EM
Article: BMC MEDICAL GENETICS. 2012;13:109
The CAG repeat polymorphism in the Androgen receptor gene modifies the risk for hypospadias in Caucasians
Adamovic T; Nordenskjold A
Article: JOURNAL OF PEDIATRIC SURGERY. 2012;47(11):2039-2043
A rare microduplication in a familial case of annular pancreas and duodenal stenosis
Markljung E; Adamovic T; Ortqvist L; Wester T; Nordenskjold A
Article: GENE. 2012;507(1):50-53
Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype
Markljung E; Adamovic T; Cao J; Naji H; Kaiser S; Wester T; Nordenskjold A
Article: HUMAN MUTATION. 2012;33(7):1063-1066
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb
Laurell T; VanderMeer JE; Wenger AM; Grigelioniene G; Nordenskjold A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2012;101(7):755-760
Prepubertal follow-up after hypospadias repair with autologous in vitro cultured urothelial cells
Fossum M; Skikuniene J; Orrego A; Nordenskjold A
Article: JOURNAL OF HUMAN GENETICS. 2012;57(2):115-121
Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci
Svenningsson A; Soderhall C; Persson S; Lundberg F; Luthman H; Chung E; Gardiner M; Kockum I; Nordenskjold A
Article: SEXUAL DEVELOPMENT. 2012;6(6):292-297
The p.G146A and p.P125P Polymorphisms in the Steroidogenic Factor-1 (SF-1) Gene Do Not Affect the Risk for Hypospadias in Caucasians
Adamovic T; Chen Y; Thai HTT; Zhang X; Markljung E; Zhao S; Nordenskjold A
Article: JOURNAL OF PEDIATRIC SURGERY. 2011;46(7):1390-1395
Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome
Zu S; Winberg J; Arnberg F; Palmer G; Svensson P-J; Wester T; Nordenskjold A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2011;19(5):540-546
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development
Bhoj EJ; Ramos P; Baker LA; Cost N; Nordenskjold A; Elder FF; Bleyl SB; Bowles NE; Arrington CB; Delhomme B; Vanhoutteghem A; Djian P; Zinn AR
Article: JOURNAL OF HUMAN GENETICS. 2011;56(5):348-351
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome
Zhang X; Chen Y; Zhao S; Markljung E; Nordenskjold A
Article: NATURE GENETICS. 2011;43(1):48-50
Common variants in DGKK are strongly associated with risk of hypospadias
van der Zanden LFM; van Rooij IALM; Feitz WFJ; Knight J; Donders ART; Renkema KY; Bongers EMHF; Vermeulen SHHM; Kiemeney LALM; Veltman JA; Arias-Vasquez A; Zhang X; Markljung E; Qiao L; Baskin LS; Nordenskjold A; Roeleveld N; Franke B; Knoers NVAM
Article: SEXUAL DEVELOPMENT. 2011;5(6):273-276
17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings
Omrani MD; Adamovic T; Grandell U; Saleh-Gargari S; Nordenskjold A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J; Gustavsson P; Lagerstedt-Robinson K; Blennow E; Lundin J; Iwarsson E; Nordenstrom A; Anderlid B-M; Bondeson M-L; Nordenskjold A; Nordgren A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2010;95(8):3633-3640
Sexual Function and Surgical Outcome in Women with Congenital Adrenal Hyperplasia Due to CYP21A2 Deficiency: Clinical Perspective and the Patients' Perception
Nordenstrom A; Frisen L; Falhammar H; Filipsson H; Holmdahl G; Janson PO; Thoren M; Hagenfeldt K; Nordenskjold A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(3):122-126
Mutational study of the MAMLD1-gene in hypospadias
Chen Y; Thai HTT; Lundin J; Lagerstedt-Robinson K; Zhao S; Markljung E; Nordenskjold A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010;53(2):61-65
22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Lundin J; Soderhall C; Lunden L; Hammarsjo A; White I; Schoumans J; Lackgren G; Kockum CC; Nordenskjold A
Article: HORMONE RESEARCH IN PAEDIATRICS. 2010;73(2):148-152
Tissue-Engineered Transplants for the Treatment of Severe Hypospadias
Fossum M; Nordenskjold A
Article: JOURNAL OF HUMAN GENETICS. 2009;54(12):706-708
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Lagerstedt-Robinson K; Svenningsson A; Nordenskjold A
Article: INTERNATIONAL JOURNAL OF ANDROLOGY. 2009;32(5):473-478
Rates of orchiopexies in Sweden: 1977-1991
Richiardi L; Vizzini L; Nordenskjold A; Pettersson A; Akre O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2009;94(9):3432-3439
Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to CYP21A2 Deficiency
Frisen L; Nordenstrom A; Falhammar H; Filipsson H; Holmdahl G; Janson PO; Thoren M; Hagenfeldt K; Moller A; Nordenskjold A
Article: PEDIATRIC NEPHROLOGY. 2009;24(8):1501-1508
Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux
Zu S; Bartik Z; Zhao S; Sillen U; Nordenskjold A
Article: CLINICAL ENDOCRINOLOGY. 2009;70(1):18-25
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Nygren U; Sodersten M; Falhammar H; Thoren M; Hagenfeldt K; Nordenskjold A
Article: ENDOCRINE JOURNAL. 2009;56(4):601-608
Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Falhammar H; Filipsson H; Holmdahl G; Janson P-O; Nordenskjold A; Hagenfeldt K; Thoren M
Article: HUMAN GENETICS. 2008;124(2):155-160
A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Thai HTT; Soderhall C; Lagerstedt K; Omrani MD; Frisen L; Lundin J; Kockum I; Nordenskjold A
Article: ENVIRONMENTAL HEALTH PERSPECTIVES. 2008;116(8):1071-1076
Maternal and gestational risk factors for hypospadias
Akre O; Boyd HA; Ahlgren M; Wilbrand K; Westergaard T; Hjalgrim H; Nordenskjoeld A; Ekborn A; Melbye M
Article: HUMAN REPRODUCTION. 2008;23(7):1607-1613
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Hagenfeldt K; Janson PO; Holmdahl G; Falhammar H; Filipsson H; Frisen L; Thoren M; Nordenskjold A
Article: CURRENT PROTOCOLS IN STEM CELL BIOLOGY. 2008;Chapter 1:Unit-1C.7
Derivation of human skin fibroblast lines for feeder cells of human embryonic stem cells.
Unger C; Felldin U; Nordenskjöld A; Dilber MS; Hovatta O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2008;158(5):729-739
Activating transcription factor 3:: a hormone responsive gene in the etiology of hypospadias
Beleza-Meireles A; Tohonen V; Soderhall C; Schwentner C; Radmayr C; Kockum I; Nordenskjold A
Article: JOURNAL OF PEDIATRIC SURGERY. 2008;43(3):443-446
Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
Svenningsson A; Lagerstedt K; Omrani MD; Nordenskjold A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2008;93(2):380-386
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia
Nordenskjoeld A; Holmdahl G; Frisen L; Falhammar H; Filipsson H; Thoren M; Janson PO; Hagenfeldt K
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2007;92(12):4643-4649
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
Falhammar H; Filipsson H; Holmdahl G; Janson P-O; Nordenskjold A; Hagenfeldt K; Thoren M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2007;92(9):3712-3718
Risk factors for hypospadias in the estrogen receptor 2 gene
Beleza-Meireles A; Kockum I; Lundberg F; Soderhall C; Nordenskjold A
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2007;356(18):1835-1841
Age at surgery for undescended testis and risk of testicular cancer
Pettersson A; Richiardi L; Nordenskjold A; Kaijser M; Akre O
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(4):405-410
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
Beleza-Meireles A; Lundberg F; Lagerstedt K; Zhou X; Omrani D; Frisen L; Nordenskjold A
Article: REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY. 2007;5:8
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias
Beleza-Meireles A; Barbaro M; Wedell A; Tohonen V; Nordenskjold A
Article: JOURNAL OF PEDIATRIC UROLOGY. 2007;3(1):10-18
Autologous in vitro cultured urothelium in hypospadias repair.
Fossum M; Svensson J; Kratz G; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2007;92(1):110-116
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar H; Filipsson H; Holmdahl G; Janson P-O; Nordenskjold A; Hagenfeldt K; Thoren M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2006;91(8):3228-3231
Frequent finding of the androgen receptor A645D variant in normal population
Lundin KB; Nordenskjold A; Giwercman A; Giwercman YL
Article: HUMAN GENETICS. 2006;119(1-2):162-168
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation
Mansouri MR; Carlsson B; Davey E; Nordenskjöld A; Wester T; Annerén G; Läckgren G; Dahl N
Article: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2006;29(1):5-10
Polymorphisms of estrogen receptor β gene are associated with hypospadias
Beleza-Meireles A; Omrani D; Kockum I; Frisén L; Lagerstedt K; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2005;90(12):6695-6698
The valine allele of the V89L polymorphism in the 5-α-reductase gene confers a reduced risk for hypospadias
Thai HTT; Kalbasi M; Lagerstedt K; Frisén L; Kockum I; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2005;90(9):5343-5348
The RsaI polymorphism in the estrogen receptor-β gene is associated with male infertility
Aschim EL; Giwercman A; Ståhl O; Eberhard J; Cwikiel M; Nordenskjöld A; Haugen TB; Grotmol T; Giwercman YL
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2005;76(3):421-426
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
Trochet D; O'Brien LM; Gozal D; Trang H; Nordenskjöld A; Laudier B; Svensson PJ; Uhrig S; Cole T; Munnich A; Gaultier C; Lyonnet S; Amiel J
Article: CELLS TISSUES ORGANS. 2005;181(1):11-22
Long-term culture of human urothelial cells -: A qualitative analysis
Fossum M; Lundberg F; Holmberg K; Schoumans J; Kratz G; Nordenskjöld A
Article: JOURNAL OF UROLOGY. 2004;172(4):1460-1463
Genome-wide linkage analysis for hypospadias susceptibility genes
Frisén L; Soderhäll C; Tapper-Persson M; Luthman H; Kockum I; Nordenskjold A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2004;89(10):5105-5109
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene
Aschim EL; Nordenskjöld A; Giwercman A; Lundin KB; Ruhayel Y; Haugen TB; Grotmol T; Giwercman YL
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2004;83(9):832-837
Genetic influence on dystocia
Algovik M; Nilsson E; Cnattingius S; Lichtenstein P; Nordenskjöld A; Westgren M
Article: INTERNATIONAL JOURNAL OF ONCOLOGY. 2003;22(5):1003-1007
Mutation analysis of the BRG1 gene in prostate cancer clinical samples
Valdman A; Nordenskjöld A; Fang XL; Naito A; Al-Shukri S; Larsson C; Ekman P; Li CD
Article: JOURNAL OF MEDICAL GENETICS. 2003;40(4):e49-49
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome -: art. no. e49
Frisén L; Lagerstedt K; Tapper-Persson M; Kockum I; Nordenskjöld A
Article: SCANDINAVIAN JOURNAL OF PLASTIC AND RECONSTRUCTIVE SURGERY AND HAND SURGERY. 2003;37(1):41-45
Isolation and in vitro cultivation of human urothelial cells from bladder washings of adult patients and children
Fossum M; Gustafson CJ; Nordenskjöld A; Kratz G
Article: CANCER RESEARCH. 2002;62(22):6598-6605
Gene expression profiling of favorable histology Wilms tumors and its correlation with clinical features
Takahashi M; Yang XMJ; Lavery TT; Furge KA; Williams BO; Tretiakova M; Montag A; Vogelzang NJ; Re GG; Garvin AJ; Söderhäll S; Kagawa S; Hazel-Martin D; Nordenskjold A; Teh BT
Article: HUMAN GENETICS. 2002;111(3):231-234
Complex segregation analysis of hypospadias
Fredell L; Iselius L; Collins A; Hansson E; Holmner S; Lundquist L; Läckgren G; Pedersen J; Stenberg A; Westbacke G; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2002;87(6):2623-2628
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity
Giwercman YL; Nordenskjöld A; Ritzén EM; Nilsson KO; Ivarsson SA; Grandell U; Wedell A
Article: JOURNAL OF UROLOGY. 2002;167(3):1423-1427
Heredity of hypospadias and the significance of low birth weight
Fredell L; Kockum I; Hansson E; Holmner S; Lundquist L; Läckgren G; Pedersen J; Stenberg A; Westbacke G; Nordenskjöld A
Article: PEDIATRICS. 2001;108(4):E70
Parallel incidences of sudden infant death syndrome and infantile hypertrophic pyloric stenosis:: A common cause?
Persson S; Ekbom A; Granath F; Nordenskjöld A
Article: HUMAN REPRODUCTION. 1999;14(10):2451-2454
No mutations found in candidate genes for dystocia
Algovik M; Lagercrantz J; Westgren M; Nordenskjöld A
Article: PEDIATRIC RESEARCH. 1999;45(5):714-717
A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease
Svensson PJ; Von Tell D; Molander ML; Anvret M; Nordenskjöld A
Article: UROLOGICAL RESEARCH. 1999;27(1):49-55
Screening for mutations in candidate genes for hypospadias
Nordenskjöld A; Friedman E; Tapper-Persson M; Söderhäll C; Leviav A; Svensson J; Anvret M
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1999;254(2):413-416
Genomic structure, 5′ flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene
Betz R; Lagercrantz J; Kedra D; Dumanski JP; Nordenskjöld A
Article: JOURNAL OF UROLOGY. 1998;160(6):2197-2199
Hypospadias is related to birth weight in discordant monozygotic twins
Fredell L; Lichtenstein P; Pedersen NL; Svensson J; Nordenskjöld A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1998;80(3):269-272
Homozygous mutation (A228T) in the 5α-reductase type 2 gene in a boy with 5α-reductase deficiency:: Genotype-phenotype correlations
Nordenskjöld A; Magnus O; Aagenaes Y; Knudtzon J
Article: HUMAN GENETICS. 1998;103(2):145-148
Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)
Svensson PJ; Anvret M; Molander ML; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 1998;83(9):3236-3238
Molecular characterization of 5α-reductase type 2 deficiency and fertility in a Swedish family
Nordenskjöld A; Ivarsson SA
Article: CLINICAL GENETICS. 1998;54(1):39-44
Low frequency of RET mutations in Hirschsprung disease in Sweden
Svensson PJ; Molander ML; Eng C; Anvret M; Nordenskjold A
Article: HUMAN MUTATION. 1998;11(4):339
An androgen receptor gene mutation (A645D) in a boy with normal phenotype
Nordenskjold A; Soderhall S
Article: CANCER RESEARCH. 1997;57(20):4469-4473
Inactivation of H19, an imprinted and putative tumor repressor gene, is a preneoplastic event during Wilms' tumorigenesis
Cui HM; Hedborg F; He LM; Sandstedt B; PfeiferOhlsson S; Ohlsson R
Article: JOURNAL OF PEDIATRIC SURGERY. 1996;31(7):925-927
No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia
Nordenskjold A; TapperPersson M; Anvret M
Article: INTERNATIONAL JOURNAL OF CANCER. 1995;63(4):516-522
CONSTITUTIONAL AND SOMATIC MUTATIONS IN THE WT1 GENE IN WILMS-TUMOR PATIENTS
NORDENSKJOLD A; FRIEDMAN E; SANDSTEDT B; SODERHALL S; ANVRET M
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All other publications

Review: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2021;31(06):492-496
Role of Genetic Counseling for Patients with Hypospadias and Their Families
Nordenskjold A; Holmdahl G
Letter: JOURNAL OF PEDIATRIC UROLOGY. 2021;17(3):368-369
Response to commentary re 'Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)'
Nordenskjold A; van de Grift T
Editorial comment: JOURNAL OF UROLOGY. 2021;206(4):1052
Re: Fertility in Adult Men Born with Hypospadias: A Nationwide Register-Based Cohort Study on Birthrates, the Use of Assisted Reproductive Technologies and Infertility
Nordenvall AS; Chen Q; Norrby C; Lundholm C; Frisen L; Nordenstrom A; Almqvist C; Nordenskjold A
Review: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2020;30(03):251-260
Health-Related Quality of Life in Patients with the Bladder Exstrophy-Epispadias Complex and Relationship to Incontinence and Sexual Factors: A Review of the Recent Literature
Holmdahl G; Dellenmark-Blom M; Nordenskjold A; Sjostrom S
Letter: PSYCHONEUROENDOCRINOLOGY. 2018;98:242-243
Letter to the editor: Sex and the eye test
Strandqvist A; Herlitz A; Nordenskjold A; Ortqvist L; Frisen L; Hirschberg AL; Nordenstrom A
Review: JOURNAL OF PEDIATRIC UROLOGY. 2016;12(3):139-149
Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?
Mouriquand PDE; Gorduza DB; Gay C-L; Meyer-Bahlburg HFL; Baker L; Baskin LS; Bouvattier C; Braga LH; Caldamone AC; Duranteau L; El Ghoneimi A; Hensle TW; Hoebeke P; Kaefer M; Kalfa N; Kolon TF; Manzoni G; Mure P-Y; Nordenskjold A; Salle JLP; Poppas DP; Ransley PG; Rink RC; Rodrigo R; Sann L; Schober J; Sibai H; Wisniewski A; Wolffenbuttel KP; Lee P
Review: CURRENT PROTOCOLS IN STEM CELL BIOLOGY. 2016;36:1C.7.1-1C.7.11
Derivation of Human Skin Fibroblast Lines for Feeder Cells of Human Embryonic Stem Cells.
Unger C; Felldin U; Rodin S; Nordenskjöld A; Dilber S; Hovatta O
Published conference paper: EUROPEAN UROLOGY OPEN SCIENCE. 2015;14(1):2-8
Genetic Aspects of Congenital Urologic Anomalies
Nordenskjold A
Review: CURRENT OPINION IN ENDOCRINOLOGY, DIABETES AND OBESITY. 2014;21(3):227-232
Genetic and environmental origins of hypospadias
Thorup J; Nordenskjold A; Hutson JM
Review: JOURNAL OF PEDIATRIC SURGERY. 2013;48(12):2536-2539
Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome
Granstrom AL; Husberg B; Nordenskjold A; Svensson P-J; Wester T
Letter: HUMAN REPRODUCTION. 2009;24(1):251
Reply: The sex ratio of offspring of women with congenital adrenal hyperplasia
Hagenfeldt K; Nordenskjold A
Review: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2007;96(5):622-627
Development and descent of the testis in relation to cryptorchidism
Virtanen HE; Cortes D; Meyts ER-D; Ritzen EM; Nordenskjold A; Skakkebaek NE; Toppari J
Review: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2007;96(5):631-637
Surgical treatment of undescended testes
Thorup J; Haugen S; Kollin C; Lindahl S; Laeckgren G; Nordenskjold A; Taskinen S
Review: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2007;96(5):638-643
Nordic consensus on treatment of undescended testes
Martin Ritzen E; Bergh A; Bjerknes R; Christiansen P; Cortes D; Haugen SE; Jorgensen N; Kollin C; Lindahl S; Lackgren G; Main KM; Nordenskjoeld A; Rajpert-De Meyts E; Soder O; Taskinen S; Thorsson A; Thorup J; Toppari J; Virtanen H
Corrigendum: NATURE GENETICS. 2007;39(1):131
Cxorf6 is a causative gene for hypospadias (vol 38, pg 1369, 2006)
Fukami M; Wada Y; Miyabayashi K; Nishino I; Hasegawa T; Camerino G; Kretz C; Buj-Bello A; Laporte J; Yamada G; Morohashi K-I; Ogata T; Nordenskjöld A
Corrigendum: AMERICAN JOURNAL OF HUMAN GENETICS. 2005;76(4):715
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome (vol 76, pg 421, 2005)
Trochet D; Brien LMO; Gozal D; Trang H; Nordenskjöld A; Laudier B; Svensson PJ; Uhrig S; Cole T; Niemann S; Munnich A; Gaultier C; Lyonnet S; Amiel J
Published conference paper: TISSUE ENGINEERING. 2004;10(1-2):175-180
Engineering of multilayered urinary tissue in vitro
Fossum M; Nordenskjöld A; Kratz G
Published conference paper: ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY. 2004;545:73-84
Genetic and clinical studies on hypospadias
Nordenskjöld A
Meeting abstract: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. 2003;189(6):S113
Genetic influence on dystocia
Algovik M; Nilsson E; Nordenskjöld A; Cnattingius S; Lichtenstein P; Westgren M
Letter: CLINICAL GENETICS. 1999;55(3):215-217
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden
Svensson PJ; Tapper-Persson M; Anvret M; Molander ML; Eng C; Nordenskjöld A
Letter: CLINICAL GENETICS. 1998;53(5):421-422
Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families
Soderhall C; Nordenskjold A
Other: HUMAN GENETICS. 1995;96(1):102-104
ABSENCE OF MUTATIONS IN THE WT1 GENE IN PATIENTS WITH XY GONADAL-DYSGENESIS
NORDENSKJOLD A; FRICKE G; ANVRET M
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Employments

Professor, Senior, Department of Women's and Children's Health, Karolinska Institutet, 2024-2025
Professor, Department of Women's and Children's Health, Karolinska Institutet, 2020-2024

Degrees and Education

Docent, Karolinska Institutet, 1999

Supervisor

Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex, https://dspace.kib.ki.se/xmlui/handle/10616/48566
Karin Salehi, Molecular and clinical studies of intestinal malrotation, https://openarchive.ki.se/articles/thesis/Molecular_and_clinical_studies_of_intestinal_malrotation/26912176?file=48956170

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