Agneta Nordenskjold

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. pmc A large nationwide population-based case-control study of the association between intussusception and later celiac disease
    Jonas F Ludvigsson
    Clinical Epidemiology Unit, Department of Medicine, Karolinska University Hospital and Karolinska Institutet, Karolinska, Sweden
    BMC Gastroenterol 13:89. 2013
  2. ncbi request reprint Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia
    Agneta Nordenskjold
    Department of Molecular Medicine and Surgery, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 93:380-6. 2008
  3. ncbi request reprint Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:4643-9. 2007
  4. ncbi request reprint Genome-wide linkage analysis for hypospadias susceptibility genes
    Louise Frisén
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Urol 172:1460-3. 2004
  5. doi request reprint A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
    Hanh T T Thai
    Department of Molecular Medicine and Surgery, CMM 02, Karolinska Institutet, Karolinska University Hospital, 171 76, Stockholm, Sweden
    Hum Genet 124:155-60. 2008
  6. doi request reprint Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype
    Ellen Markljung
    Department of Women s and Children s Health and Center for Molecular Medicine CMM02, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    Gene 507:50-3. 2012
  7. doi request reprint Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    Eur J Endocrinol 158:729-39. 2008
  8. ncbi request reprint Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism, and Diabetes, D2 04, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:110-6. 2007
  9. doi request reprint Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci
    Anna Svenningsson
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    J Hum Genet 57:115-21. 2012
  10. ncbi request reprint Risk factors for hypospadias in the estrogen receptor 2 gene
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Building CMM 00, Karolinska University Hospital, Solna, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:3712-8. 2007

Collaborators

Detail Information

Publications34

  1. pmc A large nationwide population-based case-control study of the association between intussusception and later celiac disease
    Jonas F Ludvigsson
    Clinical Epidemiology Unit, Department of Medicine, Karolinska University Hospital and Karolinska Institutet, Karolinska, Sweden
    BMC Gastroenterol 13:89. 2013
    ..Case reports and case series studies suggest a positive association between intussusception and celiac disease (CD)...
  2. ncbi request reprint Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia
    Agneta Nordenskjold
    Department of Molecular Medicine and Surgery, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 93:380-6. 2008
    ..In congenital adrenal hyperplasia (CAH) caused by different mutations, feminizing surgery is mostly performed in childhood, and many patients are lost to follow-up...
  3. ncbi request reprint Fractures and bone mineral density in adult women with 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:4643-9. 2007
    ..Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an established risk factor for osteoporosis...
  4. ncbi request reprint Genome-wide linkage analysis for hypospadias susceptibility genes
    Louise Frisén
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Urol 172:1460-3. 2004
    ..To identify chromosomal loci involved in the pathogenesis of hypospadias we performed genome-wide linkage analysis...
  5. doi request reprint A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1
    Hanh T T Thai
    Department of Molecular Medicine and Surgery, CMM 02, Karolinska Institutet, Karolinska University Hospital, 171 76, Stockholm, Sweden
    Hum Genet 124:155-60. 2008
    ....
  6. doi request reprint Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype
    Ellen Markljung
    Department of Women s and Children s Health and Center for Molecular Medicine CMM02, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    Gene 507:50-3. 2012
    ..In conclusion, we detected two novel mutations in the MNX1 gene in cases with CS, which supports mutational analysis in the diagnosis of CS, even though the variability in the genotype and phenotype correlation maintains...
  7. doi request reprint Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    Eur J Endocrinol 158:729-39. 2008
    ..Activating transcription factor 3 (ATF3), an estrogen responsive gene, has been reported to be expressed during sexual development and up-regulated in hypospadic genital skin. We investigated ATF3 as a candidate gene for hypospadias...
  8. ncbi request reprint Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism, and Diabetes, D2 04, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:110-6. 2007
    ..The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase morbidity in cardiovascular disease and diabetes...
  9. doi request reprint Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci
    Anna Svenningsson
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    J Hum Genet 57:115-21. 2012
    ..The coding exons for GLP-2, and NPY were screened for mutations with negative results. In conclusion, we could confirm suggestive linkage to the region harboring the NOS1 gene and detected additional novel susceptibility loci for IHPS...
  10. ncbi request reprint Risk factors for hypospadias in the estrogen receptor 2 gene
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Building CMM 00, Karolinska University Hospital, Solna, SE 171 76 Stockholm, Sweden
    J Clin Endocrinol Metab 92:3712-8. 2007
    ..This has been supported by the association between longer (CA)n variants in the ESR2 gene with lower androgen levels as well as with hypospadias...
  11. doi request reprint No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
    Kristina Lagerstedt-Robinson
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    J Hum Genet 54:706-8. 2009
    ..We could not confirm any association between the analyzed SNP and infantile hypertrophic pyloric stenosis...
  12. doi request reprint Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Ulrika Nygren
    Department of Clinical Science, Intervention and Technology, Division of Logopedics and Phoniatrics, Astrid Lindgren Children Hospital, Karolinska Institutet, Stockholm, Sweden
    Clin Endocrinol (Oxf) 70:18-25. 2009
    ..Raised levels of androgens can lead to increased mass in the laryngeal tissues, which may lower the fundamental frequency (F0) of the voice...
  13. doi request reprint Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association
    Johanna Winberg
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    PLoS ONE 9:e85313. 2014
    ..Our study shows that although large gene dose alterations do not seem to be a common cause in VACTERL association, array-CGH is still important in clinical diagnostics to identify disease cause in individual cases. ..
  14. doi request reprint A rare microduplication in a familial case of annular pancreas and duodenal stenosis
    Ellen Markljung
    Department of Women s and Children s Health, and Center of Molecular Medicine CMM02, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
    J Pediatr Surg 47:2039-43. 2012
    ..The aim of our study was to perform molecular investigations in this rare and familial congenital malformation...
  15. doi request reprint Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis
    Anna Svenningsson
    Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden
    J Pediatr Surg 43:443-6. 2008
    ..The purpose of this study was to investigate if mutations in the motilin gene (MLN) cause IHPS or if the V15A polymorphism in MLN is associated with the disease...
  16. doi request reprint Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception
    Anna Nordenstrom
    Department of Pediatrics, Astrid Lindgren Children s Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 95:3633-40. 2010
    ..Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation...
  17. ncbi request reprint Age at surgery for undescended testis and risk of testicular cancer
    Andreas Pettersson
    Clinical Epidemiology Unit, Department of Medicine, Karolinska Institutet, Stockholm, Sweden
    N Engl J Med 356:1835-41. 2007
    ..We studied the relation between the age at treatment for undescended testis and the risk of testicular cancer...
  18. pmc Maternal and gestational risk factors for hypospadias
    Olof Akre
    Clinical Epidemiology Unit, Department of Medicine, Karolinska University Hospital, Stockholm, Sweden
    Environ Health Perspect 116:1071-6. 2008
    ..An increase in the prevalence of hypospadias has been reported, but the environmental causes remain virtually unknown...
  19. ncbi request reprint Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Henrik Falhammar
    Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
    Endocr J 56:601-8. 2009
    ..These women might have increased frequency of NAFLD. The finding of higher LFT also in non-obese patients suggests that not only central obesity but also glucocorticoids per se may influence...
  20. doi request reprint Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency
    Louise Frisén
    Department of Psychiatry, Danderyd Hospital, SE 18287 Stockholm, Sweden
    J Clin Endocrinol Metab 94:3432-9. 2009
    ..Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency...
  21. doi request reprint Tissue-engineered transplants for the treatment of severe hypospadias
    Magdalena Fossum
    Department of Pediatric Surgery, Division of Urology, Astrid Lindgren Children s Hospital, Kardinska University Hospital, Stockholm, Sweden
    Horm Res Paediatr 73:148-52. 2010
    ..We conclude that in hypospadias repair with cultured autologous urothelial cells is an option for the surgical treatment when there is a lack of local tissue for the repair...
  22. ncbi request reprint [Boy or girl--don't ever guess! Diagnosis and treatment of sex differentiation disorders]
    Anna Nordenstrom
    Lakartidningen 105:629-33. 2008
  23. ncbi request reprint Genetic and clinical studies on hypospadias
    Agneta Nordenskjold
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Adv Exp Med Biol 545:73-84. 2004
  24. doi request reprint 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment
    Johanna Lundin
    Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden
    Eur J Med Genet 53:61-5. 2010
    ..2 microduplication associated with bladder exstrophy and hearing impairment. Furthermore the finding of one carrier among a cohort of normal controls further highlights the variable phenotype linked to this microduplication syndrome...
  25. ncbi request reprint FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
    Eur J Hum Genet 15:405-10. 2007
    ..No genetic variant in the other genes was detected. These results indicate that mutations are rare in FGF8 and FGFR2 in hypospadias, but gene variants may influence the risk...
  26. doi request reprint Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome
    Shulu Zu
    Department of Molecular Medicine and Surgery, Karolinska Institutet, SE 17176 Stockholm, Sweden
    J Pediatr Surg 46:1390-5. 2011
    ..The main cause of this monogenic disorder is mutations in the motor neuron and pancreas homeobox 1 gene. We describe the clinical and genetic findings in 4 unrelated Swedish cases with CS and their relatives...
  27. pmc Molecular and clinical delineation of the 17q22 microdeletion phenotype
    Tobias Laurell
    1 Department of Clinical Science and Education, Sodersjukhuset, Karolinska Institutet, Stockholm, Sweden 2 Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden 3 Department of Hand Surgery, Sodersjukhuset, Stockholm, Sweden
    Eur J Hum Genet 21:1085-92. 2013
    ..We conclude that these common clinical features indicate a novel clinically recognizable, 17q22 contiguous microdeletion syndrome...
  28. pmc The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians
    Tatjana Adamovic
    Department of Women s and Children s Health and Center of Molecular Medicine CMM, Karolinska Institutet, SE 171 76 Stockholm, Sweden
    BMC Med Genet 13:109. 2012
    ..In the present study, we aimed at investigating the role of the CAG repeat length in the AR gene in hypospadias cases as compared to the controls. Our study included 211 hypospadias and 208 controls of Caucasian origin...
  29. doi request reprint Partial tetrasomy 14 associated with multiple malformations
    Johanna Winberg
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 161:1284-90. 2013
    ..Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy...
  30. pmc Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias
    Ana Beleza-Meireles
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Reprod Biol Endocrinol 5:8. 2007
    ..The presence of hypospadias in mice lacking fkbp52 encouraged us to study the sequence and the expression of FKBP4 in boys with isolated hypospadias...
  31. doi request reprint Chimerism resulting from parthenogenetic activation and dispermic fertilization
    Johanna Winberg
    Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Am J Med Genet A 152:2277-86. 2010
    ..It also highlights the difficulties in predicting the clinical outcome in patients with genetic aberrations in mosaic or chimeric form...
  32. ncbi request reprint The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias
    Hanh T T Thai
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Clin Endocrinol Metab 90:6695-8. 2005
    ..Hypospadias is one of the most common malformations in man, with an incidence of 1:300 in newborn boys. No gene has been identified that causes isolated hypospadias, but the androgenic influence is important during male genital development...
  33. ncbi request reprint Complex segregation analysis of hypospadias
    Louise Fredell
    Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital CMM 02, SE 171 76 Stockholm, Sweden
    Hum Genet 111:231-4. 2002
    ..99 and evidence for multifactorial inheritance. The results suggest that hypospadias might be due to monogenic effects in a small proportion of the families, but that there is a multifactorial cause for the majority of the cases...
  34. ncbi request reprint Long-term culture of human urothelial cells--a qualitative analysis
    Magdalena Fossum
    Department of Molecular Medicine, Karolinska University Hospital, SE 171 76 Stockholm, Sweden
    Cells Tissues Organs 181:11-22. 2005
    ..When feeder cells were irradiated, 20 Gy was effective and no feeder cell contamination was seen. In conclusion, we found that a high standard of quality in urothelial cell culturing can be achieved with a careful culturing technique...