Agneta Nordenskjöld

Om mig
Publikationer
CV
Populärvetenskap och samverkan

Om mig

Agneta Nordenskjöld är professor i barnkirurgi vid Karolinska Institutet sedan 2008. Hennes forskning handlar om att på molekylär nivå försöka förstå varför medfödda missbildningar uppkommer. Framför allt fokuserar hon sin forskning på blåsexstrofi (barnet föds med öppen urinblåsa) och störd könsutveckling, så som hypospadi (missbildat urinrör hos pojkar) och oklar könstillhörighet vid födseln.

Artiklar

Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2024;109(3):e1175-e1184

Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-based Cohort Study.

Falhammar H; Hirschberg AL; Nordenskjöld A; Larsson H; Nordenström 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; Skarin Nordenvall A; Nordenskjöld A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(10):104824

Tissue specific trisomy 15 mosaicism associated with urogenital malformations.

Nordenskjöld A; Lagerstedt-Robinson K; Anderlid B-M; Lundin J
Article: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2023

Intestinal Malrotation in Children: Clinical Presentation and Outcomes.

Salehi Karlslätt K; Husberg B; Ullberg U; Nordenskjöld A; Wester T
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.

Nordenskjöld 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; Örtqvist L; Engberg H; Holmdahl G; Fossum M; Möller A; Nordenskjöld 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; Nordenskjöld A; Newman W; Woolf AS; Eckstein M; Hilger AC; Dworschak GC; Rösch 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; Åkesson 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; Schäfer 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; Nöthen 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; Nordenskjöld A; Skarin Nordenvall A
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; Nordenskjöld A; dsd-LIFE group
Article: HUMAN GENETICS AND GENOMICS 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; 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 M-T; 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 J-H; 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
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; dsd-LIFE group
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; Nordenskjöld A; Nordenström A; Frisén 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 & METABOLISM. 2022;107(2):e475-e486

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study.

Falhammar H; Frisén L; Hirschberg AL; Nordenskjöld A; Almqvist C; Nordenström A
Article: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 2021;13(1):51

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

Björlin Avdic H; Butwicka A; Nordenström A; Almqvist C; Nordenskjöld A; Engberg H; Frisén 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; van de Grift TC; Schober J; Hirschberg AL; Krege S; Nordenstrom A; Roehle R; Thyen U; Bouvattier C; Kreukels BPC; Nordenskjold A; dsd-LIFE group
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; Örtqvist L; Almqvist C; Nordenskjöld 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; Nordenskjöld A; dsd-LIFE group
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; Nordenskjöld A; Rapp M; Simmonds M; Streuli JC; Thyen U; Wiesemann C; dsd-LIFE Group
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2021;106(2):e957-e965

Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study.

Hirschberg AL; Gidlöf S; Falhammar H; Frisén L; Almqvist C; Nordenskjöld A; Nordenström 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; Möller A; Hagenfeldt K; Nordenskjöld A; Frisén 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.

Skarin Nordenvall A; Chen Q; Norrby C; Lundholm C; Frisén L; Nordenström A; Almqvist C; Nordenskjöld 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; Ehrén H; Fossum M; Wester T; Nordgren A; Nordenskjöld A
Article: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. 2020;8:567

SLC20A1 Is Involved in Urinary Tract and Urorectal Development.

Rieke JM; Zhang R; Braun D; Yilmaz Ö; Japp AS; Lopes FM; Pleschka M; Hilger AC; Schneider S; Newman WG; Beaman GM; Nordenskjöld A; Ebert A-K; Promm M; Rösch WH; Stein R; Hirsch K; Schäfer F-M; Schmiedeke E; Boemers TM; Lacher M; Kluth D; Gosemann J-H; Anderberg M; Barker G; Holmdahl G; Läckgren G; Keene D; Cervellione RM; Giorgio E; Di Grazia M; Feitz WFJ; Marcelis CLM; Van Rooij IALM; Bökenkamp 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 & METABOLISM. 2019;104(12):6148-6154

Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study.

Nordenström A; Svensson J; Lajic S; Frisén L; Nordenskjöld 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; Nordenskjöld A; Kawaguchi A; Hui TT; Ehrlich PF; Granström AL; Benliyan F; HAEC Collaborative Research Group (HCRG)
Article: CLINICAL ENDOCRINOLOGY. 2019;91(1):219-227

Voice dissatisfaction in individuals with a disorder of sex development.

Nygren U; Södersten M; Thyen U; Köhler B; Nordenskjöld A; dsd-LIFE Group
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; Baranowska Körberg I; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojević V; Lindstrand A; Nordenskjöld A
Article: ACTA PAEDIATRICA. 2019;108(6):1156-1162

Psychiatric symptoms in men with hypospadias - preliminary results of a cross-sectional cohort study.

Örtqvist L; Engberg H; Strandqvist A; Nordenström A; Holmdahl G; Nordenskjöld A; Frisén 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; Frisén L; Hirschberg AL; Nordenskjöld A; Almqvist C; Nordenström 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; Cao J; Löf-Granström A; Milani L; Metspalu A; Rintala RJ; Saarenpää-Heikkilä O; Paunio T; Wester T; Nordenskjöld A; Perola M; Pakarinen MP
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Salehi Karlslätt K; Pettersson M; Jäntti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjöld A
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; Örtqvist L; Frisén L; Nordenskjöld A; Herlitz A; Nordenström 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; Gørtz S; Romitti PA; Caggana M; Kay DM; Matsson H; Boyd HA; Hougaard DM; Nordenskjöld 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; Sjöström S; Wängqvist M; Örtqvist L; Nordenskjöld 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; Nordenskjöld A; Örtqvist L; Frisén L; Hirschberg AL; Nordenström 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; Granström AL; Wester T; Salo P; Virtanen V; Carstensen L; Bybjerg-Grauholm J; Hougaard DM; Pakarinen M; Perola M; Nordenskjöld A; Chakravarti A; Melbye M; Feenstra B
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; Nordenskjöld A; Kawaguchi A; Hui TT; Teitelbaum DH; Granström AL; Rogatko A; HAEC Collaborative Research Group (HCRG)
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; Reinfeldt Engberg G; Brodin D; Lundin J; Nordenskjöld A; Fossum M
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; Nordenskjöld A; Rozas M; Claahsen-van der Grinten H; Hiort O; Riedl S; Ahmed SF
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; Källman T; Barker G; Holmdahl G; Clementsson Kockum C; Matsson H; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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; Frisén L; Norrby C; Almqvist C; Hirschberg AL; Nordenskjöld A; Nordenström 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; Nordenström A; Butwicka A; Nordenskjöld A; Hirschberg AL; Frisén L
Article: ANDROLOGY. 2017;5(2):286-293

Sexuality and fertility in men with hypospadias; improved outcome.

Örtqvist L; Fossum M; Andersson M; Nordenström A; Frisén L; Holmdahl G; Nordenskjöld 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 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 A-K; 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
Article: JOURNAL OF PEDIATRIC UROLOGY. 2017;13(1):79.e1-79.e7

Psychosocial outcome in adult men born with hypospadias.

Örtqvist L; Andersson M; Strandqvist A; Nordenström A; Frisén L; Holmdahl G; Nordenskjöld A
Article: PLOS ONE. 2017;12(4):e0174923

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

Skarin Nordenvall A; Norrby C; Butwicka A; Frisén L; Nordenström A; Almqvist C; Nordenskjöld 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; Nordenskjöld A; Rozas M; Iotova V; Ediati A; Juul A; Krawczynski M; Hiort O; Faisal Ahmed S
Article: ACTA PAEDIATRICA. 2016;105(12):1508-1512

Population-based study shows that Hirschsprung disease does not have a negative impact on education and income.

Granström AL; Svenningsson A; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld A; Arver S; Södersten 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.

Reinfeldt Engberg G; Mantel Ä; Fossum M; Nordenskjöld A
Article: JOURNAL OF UROLOGY. 2016;196(4):1244-1249

Advantages of Reduced Prophylaxis after Tubularized Incised Plate Repair of Hypospadias.

Zeiai S; Nordenskjöld 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; Hertegård S; Södersten M; Nordenskjöld A
Article: PEDIATRICS. 2016;138(1):e20154608

Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease.

Löf Granström A; Svenningsson A; Hagel E; Oddsberg J; Nordenskjöld 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; Möller A; Hagenfeldt K; Nordenskjöld A; Frisén 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: 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; Nordenskjöld A; Kawaguchi A; Hui TT; Granström AL; Funari V; Teitelbaum DH; HAEC Collaborative Research Group
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; Nordenskjöld A; Strigård K
Article: BIOMED RESEARCH INTERNATIONAL. 2016;2016:5415012-9

Expansion of Submucosal Bladder Wall Tissue In Vitro and In Vivo.

Reinfeldt Engberg G; Chamorro CI; Nordenskjöld A; Fossum M
Article: JOURNAL OF PEDIATRIC SURGERY. 2015;50(11):1870-1873

Risk of venous thromboembolism in children after general surgery.

Humes DJ; Nordenskjöld A; Walker AJ; West J; Ludvigsson JF
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.

Granström AL; Danielson J; Husberg B; Nordenskjöld A; Wester T
Article: PSYCHIATRY RESEARCH. 2015;229(3):953-959

Congenital Adrenal Hyperplasia, Polycystic Ovary Syndrome and criminal behavior: A Swedish population based study.

Ohlsson Gotby A; Nordenström A; Falhammar H; Nordenskjöld A; Linden Hirschberg A; Frisén L; Landén M; Lichtenstein P
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; Nordenström A; Hirschberg AL; Falhammar H; Lichtenstein P; Nordenskjöld A; Frisén L; Landén M
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; Nordenskjöld A; Olivant Fisher A; Figueroa TE; BaniHani AH; Hagerty JA; Gonzaléz R; Noh PH; Chiavacci RM; Harden KR; Abrams DJ; Kim CE; Li J; Hakonarson H; Devoto M
Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Baranowska Körberg I; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojević V; Clementson Kockum C; Lundin J; Lindstrand A; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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; Nordenskjöld A; Olivant Fisher A; 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 RE; 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.

Söderhäll C; Körberg IB; Thai HTT; Cao J; Chen Y; Zhang X; Shulu Z; van der Zanden LFM; van Rooij IALM; Frisén L; Roeleveld N; Markljung E; Kockum I; Nordenskjöld 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; Johansson Ramgren J; Nilsson B; Liedén A; Nordenskjöld A; Gustavsson P; Nordgren A
Article: JOURNAL OF UROLOGY. 2015;193(3):975-981

Long-term followup of men born with hypospadias: urological and cosmetic results.

Örtqvist L; Fossum M; Andersson M; Nordenström A; Frisén L; Holmdahl G; Nordenskjöld 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; Engberg GR; Brodin D; Nordenskjöld 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; Nordenskjöld A; Kawaguchi A; Hui TT; Granström AL; Cheng Z; Tang J; Underhill DM; Iliev I; Funari VA; Wester T; HAEC Collaborative Research Group (HCRG)
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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; Rösch W; Boemers TM; Hirsch K; Schmiedeke E; Meesters C; Becker T; Stein R; Utsch B; Mangold E; Nordenskjöld A; Barker G; Kockum CC; Zwink N; Holmdahl G; Läckgren G; Jenetzky E; Feitz WFJ; Marcelis C; Wijers CHW; Van Rooij IALM; Gearhart JP; Herrmann BG; Ludwig M; Boyadjiev SA; Nöthen MM; Mattheisen M
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; Körberg IB; Choudhry S; Karjalainen JM; Schnack TH; Hollegaard MV; Feitz WFJ; Roeleveld N; Hougaard DM; Hirschhorn JN; Franke L; Baskin LS; Nordenskjöld A; van der Zanden LFM; Melbye 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: 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; Nordenskjöld 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; Nordenskjöld A; Hilborn J; Götherström 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; Rösch W; Stein R; Bartels E; von Lowtzow C; Boemers TM; Herms S; Gearhart JP; Lakshmanan Y; Kockum CC; Holmdahl G; Läckgren G; Nordenskjöld A; Boyadjiev SA; Herrmann BG; Nöthen MM; Ludwig M; Reutter H
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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.

Granström AL; Markljung E; Fink K; Nordenskjöld E; Nilsson D; Wester T; Nordenskjöld A
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; Frisén L; Nordenström A; Lichtenstein P; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2014;99(3):E554-E560

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Falhammar H; Butwicka A; Landén M; Lichtenstein P; Nordenskjöld A; Nordenström A; Frisén L
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; Nordenskjöld E; Svensson P-J; Annerén G; Iwarsson E; Nordgren A; Nordenskjöld 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; Nyström HF; Falhammar H; Hagenfeldt K; Nordenskjöld A; Södersten 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; Nordenskjöld A; Price SM; Rosenberg C; Turnpenny PD; Vianna-Morgante AM; Nordgren A
Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 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; Körberg IB; Bedell B; Krogh C; Fan R; Svenningsson A; Caggana M; Nordenskjöld 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; Lagerstedt Robinson K; Naess K; Lesko N; Wibom R; Liedén A; Anderlid B-M; Graff C; Nordenskjöld 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; Nordenskjöld A; Murray JA; Olén O
Article: PEDIATRICS. 2013;131(4):e1174-e1180

Growth of spontaneously descended and surgically treated testes during early childhood.

Kollin C; Granholm T; Nordenskjöld A; Ritzén EM
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.

Reinfeldt Engberg G; Lundberg J; Chamorro CI; Nordenskjöld A; Fossum M
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; Liedén A; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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; Söder O; Toppari J; Nordenskjöld A; Ritzén 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld A; Arner M; Ekblom AG; Bejerano G; Ahituv N; Nordgren A
Article: ACTA PAEDIATRICA. 2012;101(7):755-760

Prepubertal follow-up after hypospadias repair with autologous in vitro cultured urothelial cells.

Fossum M; Skikuniene J; Orrego A; Nordenskjöld 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; Söderhäll C; Persson S; Lundberg F; Luthman H; Chung E; Gardiner M; Kockum I; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld 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; Garg V; Cost N; Nordenskjöld 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; Nordenskjöld A
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; Nordenskjöld 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-Vásquez A; Zhang X; Markljung E; Qiao L; Baskin LS; Nordenskjöld A; Roeleveld N; Franke B; Knoers NVAM
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; Nordenström A; Anderlid B-M; Bondeson M-L; Nordenskjöld A; Nordgren A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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.

Nordenström A; Frisén L; Falhammar H; Filipsson H; Holmdahl G; Janson PO; Thorén M; Hagenfeldt K; Nordenskjöld 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; Nordenskjöld 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; Söderhäll C; Lundén L; Hammarsjö A; White I; Schoumans J; Läckgren G; Kockum CC; Nordenskjöld A
Article: HORMONE RESEARCH IN PAEDIATRICS. 2010;73(2):148-152

Tissue-engineered transplants for the treatment of severe hypospadias.

Fossum M; Nordenskjöld 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; Nordenskjöld A
Article: INTERNATIONAL JOURNAL OF ANDROLOGY. 2009;32(5):473-478

Rates of orchiopexies in Sweden: 1977-1991.

Richiardi L; Vizzini L; Nordenskjöld A; Pettersson A; Akre O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2009;94(9):3432-3439

Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

Frisén L; Nordenström A; Falhammar H; Filipsson H; Holmdahl G; Janson PO; Thorén M; Hagenfeldt K; Möller A; Nordenskjöld 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; Nordenskjöld 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; Nordenskjöld A; Hagenfeldt K; Thorén M
Article: CLINICAL ENDOCRINOLOGY. 2009;70(1):18-25

Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Nygren U; Södersten M; Falhammar H; Thorén M; Hagenfeldt K; Nordenskjöld A
Article: HUMAN GENETICS. 2008;124(2):155-160

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1.

Thai HTT; Söderhäll C; Lagerstedt K; Omrani MD; Frisén L; Lundin J; Kockum I; Nordenskjöld 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; Nordenskjöld A; Ekbom 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; Frisén L; Thorén M; Nordenskjöld 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. 2008;158(5):729-739

Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias.

Beleza-Meireles A; Töhönen V; Söderhäll C; Schwentner C; Radmayr C; Kockum I; Nordenskjöld 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; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2008;93(2):380-386

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.

Nordenskjöld A; Holmdahl G; Frisén L; Falhammar H; Filipsson H; Thorén M; Janson PO; Hagenfeldt K
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 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; Nordenskjöld A; Hagenfeldt K; Thorén M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2007;92(9):3712-3718

Risk factors for hypospadias in the estrogen receptor 2 gene.

Beleza-Meireles A; Kockum I; Lundberg F; Söderhäll C; Nordenskjöld 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; Frisén L; Nordenskjöld 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; Töhönen V; Nordenskjöld 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 & METABOLISM. 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; Nordenskjöld A; Hagenfeldt K; Thorén M
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2006;91(8):3228-3231

Frequent finding of the androgen receptor A645D variant in normal population.

Lundin KB; Nordenskjöld 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 beta gene are associated with hypospadias.

Beleza-Meireles A; Omrani D; Kockum I; Frisén L; Lagerstedt K; Nordenskjöld A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2005;90(12):6695-6698

The valine allele of the V89L polymorphism in the 5-alpha-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 & METABOLISM. 2005;90(9):5343-5348

The RsaI polymorphism in the estrogen receptor-beta 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 P-J; Uhrig S; Cole T; Niemann S; 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 CLINICAL ENDOCRINOLOGY & METABOLISM. 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: JOURNAL OF UROLOGY. 2004;172(4 Pt 1):1460-1463

Genome-wide linkage analysis for hypospadias susceptibility genes.

Frisén L; Söderhäll C; Tapper-Persson M; Luthman H; Kockum I; Nordenskjöld A
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 X; Naito A; Al-Shukri S; Larsson C; Ekman P; Li C
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.

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 C-J; 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 XJ; 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 & METABOLISM. 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 S-A; 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 Pt 1):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 Pt 1):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 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations.

Nordenskjöld A; Magnus O; Aagenaes O; 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 & METABOLISM. 1998;83(9):3236-3238

Molecular characterization of 5 alpha-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; Nordenskjöld A
Article: HUMAN MUTATION. 1998;11(4):339

An androgen receptor gene mutation (A645D) in a boy with a normal phenotype.

Nordenskjöld A; Söderhäll 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 H; Hedborg F; He L; Nordenskjöld A; Sandstedt B; Pfeifer-Ohlsson 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.

Nordenskjöld A; Tapper-Persson 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.

Nordenskjöld A; Friedman E; Sandstedt B; Söderhäll S; Anvret M
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Review: EUROPEAN JOURNAL OF PEDIATRIC SURGERY. 2021;31(6):492-496

Role of Genetic Counseling for Patients with Hypospadias and Their Families.

Nordenskjöld 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)'.

Nordenskjöld 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(3):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; Nordenskjöld A; Sjöström S
Letter: PSYCHONEUROENDOCRINOLOGY. 2018;98:242-243

Letter to the editor: Sex and the eye test.

Strandqvist A; Herlitz A; Nordenskjöld A; Örtqvist L; Frisén L; Hirschberg AL; Nordenström 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; Nordenskjöld A; Pippi Salle JL; 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 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; Nordenskjöld 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.

Granström AL; Husberg B; Nordenskjöld 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. 2007;96(5):622-627

Development and descent of the testis in relation to cryptorchidism.

Virtanen HE; Cortes D; Rajpert-De Meyts E; Ritzén EM; Nordenskjöld A; Skakkebaek NE; Toppari J
Review: ACTA PAEDIATRICA. 2007;96(5):631-637

Surgical treatment of undescended testes.

Thorup J; Haugen S; Kollin C; Lindahl S; Läckgren G; Nordenskjold A; Taskinen S
Review: ACTA PAEDIATRICA. 2007;96(5):638-643

Nordic consensus on treatment of undescended testes.

Ritzén EM; Bergh A; Bjerknes R; Christiansen P; Cortes D; Haugen SE; Jörgensen N; Kollin C; Lindahl S; Läckgren G; Main KM; Nordenskjöld A; Rajpert-De Meyts E; Söder 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 paper: CELL BIOLOGY AND TRANSLATIONAL MEDICINE, VOL 14: STEM CELLS IN LINEAGE SPECIFIC DIFFERENTIATION AND DISEASE. 2004;545:73-84

Genetic and clinical studies on hypospadias.

Nordenskjöld A
Published paper: TISSUE ENGINEERING. 2004;10(1-2):175-180

Engineering of multilayered urinary tissue in vitro.

Fossum M; Nordenskjöld A; Kratz G
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.

Söderhäll C; Nordenskjöld A
Other: HUMAN GENETICS. 1995;96(1):102-104

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

Nordenskjöld A; Fricke G; Anvret M
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