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Agneta Nordenskjöld

Professor/senior physician

Visiting address : Karolinska UniversitetsSjukhuset; H2:00, 17176 Stockholm, Sweden
Postal address : Department of Women's and Children's Health (KBH), K6, Department of Women's and Children's Health (KBH), K6, Karolinska UniversitetsSjukhuset Solna; H2:00, 17176 Stockholm, Sweden
Delivery address : Institutionen för kvinnors och barns hälsa; Astrid Lindgrens barnsjukhus Q3:03; Karolinska Universitetssjukhuset, 171 76 Stockholm, Sweden

Publications

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, et al
Journal of pediatric surgery 2016;51(1):81-6

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, et al
SpringerPlus 2016;5():245-

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
Current protocols in stem cell biology 2016;36():1C.7.1-11

Hypospadias as a novel feature in spinal bulbar muscle atrophy
Nordenvall As, Paucar M, Almqvist C, Nordenström A, Frisén L, Nordenskjöld A
Journal of neurology 2016;263(4):703-6

Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease
Löf Granström A, Svenningsson A, Hagel E, Oddsberg J, Nordenskjöld A, Wester T
Pediatrics 2016;138(1):-

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?
Mouriquand Pd, Gorduza Db, Gay Cl, Meyer-bahlburg Hf, Baker L, Baskin Ls, et al
Journal of pediatric urology 2016;12(3):139-49

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
Clinical endocrinology 2016;85(1):21-8

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
Journal of pediatric surgery 2015;50(11):1865-9

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
Tissue engineering. Part A 2015;21(3-4):510-7

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, et al
Psychoneuroendocrinology 2015;60():195-205

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, et al
Psychiatry research 2015;229(3):953-9

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Söderhäll C, Körberg Ib, Thai Ht, Cao J, Chen Y, Zhang X, et al
European journal of human genetics : EJHG 2015;23(4):516-22

Genetic Aspects of Congenital Urologic Anomalies
Nordenskjold A
EUROPEAN UROLOGY SUPPLEMENTS 2015;14(1):2-8

Hypospadias and increased risk for neurodevelopmental disorders
Butwicka A, Lichtenstein P, Landén M, Nordenvall As, Nordenström A, Nordenskjöld A, et al
Journal of child psychology and psychiatry, and allied disciplines 2015;56(2):155-61

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, et al
The Journal of clinical endocrinology and metabolism 2015;100(9):3520-8

Long-term followup of men born with hypospadias: urological and cosmetic results
Örtqvist L, Fossum M, Andersson M, Nordenström A, Frisén L, Holmdahl G, et al
The Journal of urology 2015;193(3):975-81

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, et al
European journal of medical genetics 2015;58(3):129-33

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, et al
Human reproduction (Oxford, England) 2015;30(10):2439-51

Risk of venous thromboembolism in children after general surgery
Humes Dj, Nordenskjöld A, Walker Aj, West J, Ludvigsson Jf
Journal of pediatric surgery 2015;50(11):1870-3

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish
Baranowska Körberg I, Hofmeister W, Markljung E, Cao J, Nilsson D, Ludwig M, et al
Human molecular genetics 2015;24(18):5069-78

A case with bladder exstrophy and unbalanced X chromosome rearrangement
Soderhall C, Lundin J, Lagerstedt-robinson K, Grigelioniene G, Lackgren G, Kockum Cc, et al
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2014;24(4):353-9

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, et al
Journal of pediatric surgery 2014;49(4):622-5

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, et al
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY 2014;100(6):512-7

Genetic and environmental origins of hypospadias
Thorup J, Nordenskjöld A, Hutson Jm
Current opinion in endocrinology, diabetes, and obesity 2014;21(3):227-32

Genome-wide association analyses identify variants in developmental genes associated with hypospadias
Geller F, Feenstra B, Carstensen L, Pers Th, Van Rooij Ia, Körberg Ib, et al
Nature genetics 2014;46(9):957-63

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 Ak, et al
Human molecular genetics 2014;23(20):5536-44

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, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

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, et al
The Journal of clinical endocrinology and metabolism 2014;99(12):E2715-21

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, et al
The Journal of clinical endocrinology and metabolism 2014;99(3):E554-60

Maternal and pregnancy characteristics and risk of infantile hypertrophic pyloric stenosis
Svenningsson A, Svensson T, Akre O, Nordenskjöld A
Journal of pediatric surgery 2014;49(8):1226-31

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, et al
PloS one 2014;9(1):e85313-

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
The Journal of urology 2014;191(3):783-9

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, et al
The Journal of clinical endocrinology and metabolism 2014;99(4):1425-32

Transdifferentiation of autologous bone marrow cells on a collagen-poly(epsilon-caprolactone) scaffold for tissue engineering in complete lack of native urothelium
Zhao J, Zeiai S, Ekblad A, Nordenskjold A, Hilborn J, Gotherstrom C, et al
JOURNAL OF THE ROYAL SOCIETY INTERFACE 2014;11(96):20140233-

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
BMC gastroenterology 2013;13():89-

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 Ht, Liedén A, Nordenskjöld A
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2013;7(4):173-9

Growth of spontaneously descended and surgically treated testes during early childhood
Kollin C, Granholm T, Nordenskjöld A, Ritzén Em
Pediatrics 2013;131(4):e1174-80

Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome
Granström Al, Husberg B, Nordenskjöld A, Svensson Pj, Wester T
Journal of pediatric surgery 2013;48(12):2536-9

Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell T, Lundin J, Anderlid Bm, Gorski Jl, Grigelioniene G, Knight Sj, et al
European journal of human genetics : EJHG 2013;21(10):1085-92

Partial tetrasomy 14 associated with multiple malformations
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, et al
American journal of medical genetics. Part A 2013;161A(6):1284-90

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, et al
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION 2013;310(7):714-21

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
BioMed research international 2013;2013():212734-

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
CLINICAL ENDOCRINOLOGY 2013;79(6):859-66

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, et al
Human mutation 2012;33(7):1063-6

A rare microduplication in a familial case of annular pancreas and duodenal stenosis
Markljung E, Adamovic T, Ortqvist L, Wester T, Nordenskjöld A
Journal of pediatric surgery 2012;47(11):2039-43

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, et al
The Journal of clinical endocrinology and metabolism 2012;97(12):4588-95

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, et al
JOURNAL OF HUMAN GENETICS 2012;57(2):115-21

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, et al
Gene 2012;507(1):50-3

Prepubertal follow-up after hypospadias repair with autologous in vitro cultured urothelial cells
Fossum M, Skikuniene J, Orrego A, Nordenskjöld A
Acta paediatrica (Oslo, Norway : 1992) 2012;101(7):755-60

The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians
Adamovic T, Nordenskjöld A
BMC medical genetics 2012;13():109-

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 Ht, Zhang X, Markljung E, Zhao S, et al
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012;6(6):292-7

17-beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings
Omrani Md, Adamovic T, Grandell U, Saleh-gargari S, Nordenskjold A
SEXUAL DEVELOPMENT 2011;5(6):273-6

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, et al
NATURE GENETICS 2011;43(1):48-50

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, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2011;19(5):540-6

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome
Zhang Xf, Chen Yg, Zhao St, Markljung E, Nordenskjold A
JOURNAL OF HUMAN GENETICS 2011;56(5):348-51

Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome
Zu Sl, Winberg J, Arnberg F, Palmer G, Svensson Pj, Wester T, et al
JOURNAL OF PEDIATRIC SURGERY 2011;46(7):1390-5

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
Lundin J, Soderhall C, Lunden L, Hammarsjo A, White I, Schoumans J, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2010;53(2):61-5

Chimerism Resulting From Parthenogenetic Activation and Dispermic Fertilization
Winberg J, Gustavsson P, Lagerstedt-robinson K, Blennow E, Lundin J, Iwarsson E, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2010;152A(9):2277-86

Mutational study of the MAMLD1-gene in hypospadias
Chen Yg, Thai Htt, Lundin J, Lagerstedt-robinson K, Zhao St, Markljung E, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2010;53(3):122-6

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, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2010;95(8):3633-40

Tissue-Engineered Transplants for the Treatment of Severe Hypospadias
Fossum M, Nordenskjold A
HORMONE RESEARCH IN PAEDIATRICS 2010;73(2):148-52

Gender atypical behavior, sexual orientation, and quality of life in women with congenital adrenal hyperplasia correlate to CYP21A2 genotype
Nordenstrom A, Frisen L, Falhammar H, Filipsson H, Holmdahl G, Janson Po, et al
HORMONE RESEARCH 2009;:342-342

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, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2009;94(9):3432-9

Increased Liver Enzymes in Adult Women with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Falhammar H, Filipsson H, Holmdahl G, Janson Po, Nordenskjold A, Hagenfeldt K, et al
ENDOCRINE JOURNAL 2009;56(4):601-8

Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux
Zu Sl, Bartik Z, Zhao St, Sillen U, Nordenskjold A
PEDIATRIC NEPHROLOGY 2009;24(8):1501-8

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Lagerstedt-robinson K, Svenningsson A, Nordenskjold A
JOURNAL OF HUMAN GENETICS 2009;54(12):706-8

Rates of orchiopexies in Sweden: 1977-1991
Richiardi L, Vizzini L, Nordenskjold A, Pettersson A, Akre O
INTERNATIONAL JOURNAL OF ANDROLOGY 2009;32(5):473-8

Reply: The sex ratio of offspring of women with congenital adrenal hyperplasia
Hagenfeldt K, Nordenskjold A
HUMAN REPRODUCTION 2009;24(1):251-251

Surgical outcome and sexual function in women with congenital adrenal hyperplasia (CAH), clinical perspective and as perceived by the patients themselves
Nordenstrom A, Frisen L, Falhammar H, Holmdahl G, Filipsson H, Janson Po, et al
HORMONE RESEARCH 2009;:343-343

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
CLINICAL ENDOCRINOLOGY 2009;70(1):18-25

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
Svenningsson A, Lagerstedt K, Omrani Md, Nordenskjold A
JOURNAL OF PEDIATRIC SURGERY 2008;43(3):443-6

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, et al
EUROPEAN JOURNAL OF ENDOCRINOLOGY 2008;158(5):729-39

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
Thai Htt, Soderhall C, Lagerstedt K, Omrani Md, Frisen L, Lundin J, et al
HUMAN GENETICS 2008;124(2):155-60

Derivation of human skin fibroblast lines for feeder cells of human embryonic stem cells
Unger C, Felldin U, Nordenskjöld A, Dilber Ms, Hovatta O
Current protocols in stem cell biology 2008;Chapter 1():1C.7-

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, et al
HUMAN REPRODUCTION 2008;23(7):1607-13

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia
Nordenskjold A, Holmdahl G, Frisen L, Falhammar H, Filipsson H, Thoren M, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2008;93(2):380-6

Age at surgery for undescended testis and risk of testicular cancer
Pettersson A, Richiardi L, Nordenskjold A, Kaijser M, Akre O
NEW ENGLAND JOURNAL OF MEDICINE 2007;356(18):1835-41

Autologous in vitro cultured urothelium in hypospadias repair
Fossum M, Svensson J, Kratz G, Nordenskjöld A
Journal of pediatric urology 2007;3(1):10-8

Cxorf6 is a causative gene for hypospadias (vol 38, pg 1369, 2006)
Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Camerino G, et al
NATURE GENETICS 2007;39(1):131-131

Development and descent of the testis in relation to cryptorchidism
Virtanen He, Cortes D, Meyts Erd, Ritzen Em, Nordenskjold A, Skakkebaek Ne, et al
ACTA PAEDIATRICA 2007;96(5):622-7

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
Beleza-meireles A, Lundberg F, Lagerstedt K, Zhou Xl, Omrani D, Frisen L, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2007;15(4):405-10

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
Falhammar H, Filipsson H, Holmdahl G, Janson Po, Nordenskjold A, Hagenfeldt K, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2007;92(12):4643-9

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Falhammar H, Filipsson H, Holmdahl G, Janson Po, Nordenskjold A, Hagenfeldt K, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2007;92(1):110-6

Nordic consensus on treatment of undescended testes
Ritzen Em, Bergh A, Bjerknes R, Christiansen P, Cortes D, Haugen Se, et al
ACTA PAEDIATRICA 2007;96(5):638-43

Risk factors for hypospadias in the estrogen receptor 2 gene
Beleza-meireles A, Kockum I, Lundberg F, Soderhall C, Nordenskjold A
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2007;92(9):3712-8

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
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY 2007;:8-

Surgical treatment of undescended testes
Thorup J, Haugen S, Kollin C, Lindahl S, Lackgren G, Nordenskjold A, et al
ACTA PAEDIATRICA 2007;96(5):631-7

Frequent finding of the androgen receptor A645D variant in normal population
Lundin Kb, Nordenskjold A, Giwercman A, Giwercman Yl
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2006;91(8):3228-31

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, Nordenskjold A, Wester T, Anneren G, et al
HUMAN GENETICS 2006;119(1-2):162-8

Polymorphisms of estrogen receptor beta gene are associated with hypospadias
Beleza-meireles A, Omrani D, Kockum I, Frisen L, Lagerstedt K, Nordenskjold A
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION 2006;29(1):5-10

Long-term culture of human urothelial cells - A qualitative analysis
Fossum M, Lundberg F, Holmberg K, Schoumans J, Kratz G, Nordenskjold A
CELLS TISSUES ORGANS 2005;181(1):11-22

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome
Trochet D, O'brien Lm, Gozal D, Trang H, Nordenskjold A, Laudier B, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2005;76(3):421-6

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, Nordenskjold A, Laudier B, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2005;76(4):715-715

The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility
Aschim El, Giwercman A, Stahl O, Eberhard J, Cwikiel M, Nordenskjold A, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2005;90(9):5343-8

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, Frisen L, Kockum I, Nordenskjold A
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2005;90(12):6695-8

Engineering of multilayered urinary tissue in vitro
Fossum M, Nordenskjold A, Kratz G
TISSUE ENGINEERING 2004;10(1-2):175-80

Genetic and clinical studies on hypospadias
Nordenskjold A
HYPOSPADIAS AND GENITAL DEVELOPMENT 2004;:73-84

Genetic influence on dystocia
Algovik M, Nilsson E, Cnattingius S, Lichtenstein P, Nordenskjold A, Westgren M
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA 2004;83(9):832-7

Genome-wide linkage analysis for hypospadias susceptibility genes
Frisen L, Soderhall C, Tapper-persson M, Luthman H, Kockum I, Nordenskjold A
JOURNAL OF UROLOGY 2004;172(4):1460-3

Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene
Aschim El, Nordenskjold A, Giwercman A, Lundin Kb, Ruhayel Y, Haugen Tb, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2004;89(10):5105-9

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
Frisen L, Lagerstedt K, Tapper-persson M, Kockum I, Nordenskjold A
JOURNAL OF MEDICAL GENETICS 2003;40(4):e49-

Genetic influence on dystocia
Algovik M, Nilsson E, Nordenskjold A, Cnattingius S, Lichtenstein P, Westgren M
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 2003;189(6):S113-S113

Mutation analysis of the BRG1 gene in prostate cancer clinical samples
Valdman A, Nordenskjold A, Fang Xl, Naito A, Al-shukri S, Larsson C, et al
INTERNATIONAL JOURNAL OF ONCOLOGY 2003;22(5):1003-7

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, Nordenskjold A, Ritzen Em, Nilsson Ko, Ivarsson Sa, Grandell U, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2002;87(6):2623-8

Complex segregation analysis of hypospadias
Fredell L, Iselius L, Collins A, Hansson E, Holmner S, Lundquist L, et al
HUMAN GENETICS 2002;111(3):231-4

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, et al
CANCER RESEARCH 2002;62(22):6598-605

Heredity of hypospadias and the significance of low birth weight
Fredell L, Kockum I, Hansson E, Holmner S, Lundquist L, Lackgren G, et al
JOURNAL OF UROLOGY 2002;167(3):1423-7

Parallel incidences of sudden infant death syndrome and infantile hypertrophic pyloric stenosis: A common cause?
Persson S, Ekbom A, Granath F, Nordenskjold A
PEDIATRICS 2001;108(4):E70-

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, Nordenskjold A
PEDIATRIC RESEARCH 1999;45(5):714-7

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, Nordenskjold A
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 1999;254(2):413-6

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden
Svensson Pj, Tapper-persson M, Anvret M, Molander Ml, Eng C, Nordenskjold A
CLINICAL GENETICS 1999;55(3):215-7

No mutations found in candidate genes for dystocia
Algovik M, Lagercrantz J, Westgren M, Nordenskjold A
HUMAN REPRODUCTION 1999;14(10):2451-4

Screening for mutations in candidate genes for hypospadias
Nordenskjold A, Friedman E, Tapper-persson M, Soderhall C, Leviav A, Svensson J, et al
UROLOGICAL RESEARCH 1999;27(1):49-55

An androgen receptor gene mutation (A645D) in a boy with normal phenotype
Nordenskjold A, Soderhall S
HUMAN MUTATION 1998;11(4):339-

Homozygous mutation (A228T) in the 5 alpha-reductase type 2 gene in a boy with 5 alpha-reductase deficiency: Genotype-phenotype correlations
Nordenskjold A, Magnus O, Aagenaes Y, Knudtzon J
AMERICAN JOURNAL OF MEDICAL GENETICS 1998;80(3):269-72

Hypospadias is related to birth weight in discordant monozygotic twins
Fredell L, Lichtenstein P, Pedersen Nl, Svensson J, Nordenskjold A
JOURNAL OF UROLOGY 1998;160(6):2197-9

Low frequency of RET mutations in Hirschsprung disease in Sweden
Svensson Pj, Molander Ml, Eng C, Anvret M, Nordenskjold A
CLINICAL GENETICS 1998;54(1):39-44

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family
Nordenskjold A, Ivarsson Sa
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 1998;83(9):3236-8

Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families
Soderhall C, Nordenskjold A
CLINICAL GENETICS 1998;53(5):421-2

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)
Svensson Pj, Anvret M, Molander Ml, Nordenskjold A
HUMAN GENETICS 1998;103(2):145-8

No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia
Nordenskjold A, Tapperpersson M, Anvret M
JOURNAL OF PEDIATRIC SURGERY 1996;31(7):925-7

ABSENCE OF MUTATIONS IN THE WT1 GENE IN PATIENTS WITH XY GONADAL-DYSGENESIS
Nordenskjold A, Fricke G, Anvret M
HUMAN GENETICS 1995;96(1):102-4

CONSTITUTIONAL AND SOMATIC MUTATIONS IN THE WT1 GENE IN WILMS-TUMOR PATIENTS
Nordenskjold A, Friedman E, Sandstedt B, Soderhall S, Anvret M
INTERNATIONAL JOURNAL OF CANCER 1995;63(4):516-22

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