A Nordenskjold

Summary

Affiliation: Karolinska Institutet
Country: Sweden

Publications

  1. ncbi Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family
    A Nordenskjold
    Department of Molecular Medicine, Karolinska Hospital St Görans Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 83:3236-8. 1998
  2. ncbi Genetic and clinical studies on hypospadias
    Agneta Nordenskjold
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Adv Exp Med Biol 545:73-84. 2004
  3. pmc A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
    L Frisén
    Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital, SE 17176 Stockholm, Sweden
    J Med Genet 40:e49. 2003
  4. ncbi A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease
    P J Svensson
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Pediatr Res 45:714-7. 1999
  5. ncbi Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population
    T Adamovic
    Department of Women s and Children s Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Sex Dev 7:173-9. 2013
  6. ncbi Screening for mutations in candidate genes for hypospadias
    A Nordenskjold
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Urol Res 27:49-55. 1999
  7. ncbi [Boy or girl? Molecular mechanisms in sex differentiation]
    A Wedell
    Institutionen för molekylärmedicin, avd för klinisk genetik
    Lakartidningen 97:449-57. 2000
  8. ncbi Low frequency of RET mutations in Hirschsprung disease in Sweden
    P J Svensson
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Clin Genet 54:39-44. 1998
  9. doi Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    K Hagenfeldt
    Department of Women and Child Health, Division of Obstetrics and Gynaecology, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Hum Reprod 23:1607-13. 2008
  10. ncbi Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden
    A Strandqvist
    Departments of Paediatric Endocrinology A S, A Nordenst and Paediatric Surgery A Nordensk, Astrid Lindgren Children Hospital, Departments of Endocrinology, Metabolism, and Diabetes H F and Women s and Children s Health, and Center for Inherited Metabolic Diseases A W, Karolinska University Hospital, SE 171 76 Stockholm, Sweden and Departments of Molecular Medicine and Surgery H F, A W, Medical Epidemiology and Biostatistics P L, C N, Clinical Neuroscience L F, and Women s and Children s Health A S, A L H, A Nordensk, A Nordenst, Center for Molecular Medicine A Nordensk, and Child and Adolescent Psychiatry Research Center L F, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    J Clin Endocrinol Metab 99:1425-32. 2014

Collaborators

  • A Nordenstrom
  • P Lichtenstein
  • Y Chen
  • S Zhao
  • J Svensson
  • J Lagercrantz
  • CHARIS E ENG
  • T Adamovic
  • L Frisén
  • P J Svensson
  • A Strandqvist
  • H T T Thai
  • A Wedell
  • H Falhammar
  • K Hagenfeldt
  • A Beleza-Meireles
  • I Kockum
  • K Lagerstedt
  • M Anvret
  • M L Molander
  • A L Hirschberg
  • C Norrby
  • A Lieden
  • S Persson
  • E Markljung
  • X Zhang
  • P O Janson
  • G Holmdahl
  • R Betz
  • M Thoren
  • H Filipsson
  • D Omrani
  • M Tapper-Persson
  • A Ekbom
  • F Granath
  • M Ritzen
  • D Kedra
  • J P Dumanski
  • D von Tell

Detail Information

Publications17

  1. ncbi Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family
    A Nordenskjold
    Department of Molecular Medicine, Karolinska Hospital St Görans Hospital, Stockholm, Sweden
    J Clin Endocrinol Metab 83:3236-8. 1998
    ..The two mutations (G196S and H231R) have been described previously and reported to give rise to partially functioning enzymes, which may explain the milder phenotype and perhaps the fertility in the preset three patients...
  2. ncbi Genetic and clinical studies on hypospadias
    Agneta Nordenskjold
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Adv Exp Med Biol 545:73-84. 2004
  3. pmc A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
    L Frisén
    Department of Molecular Medicine, Karolinska Institutet, Karolinska Hospital, SE 17176 Stockholm, Sweden
    J Med Genet 40:e49. 2003
  4. ncbi A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease
    P J Svensson
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Pediatr Res 45:714-7. 1999
    ..This frameshift results in a premature stop two codons further on. Because this stop is introduced 5' of the biologically active protein, this mutation can hence be predicted to result in haplo-insufficiency...
  5. ncbi Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population
    T Adamovic
    Department of Women s and Children s Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Sex Dev 7:173-9. 2013
    ..In conclusion, our data implicate that the AR rs5919436 (g.67024320C>G) polymorphism may act as a novel genetic marker for increased susceptibility to severe hypospadias in Caucasians...
  6. ncbi Screening for mutations in candidate genes for hypospadias
    A Nordenskjold
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Urol Res 27:49-55. 1999
    ..In summary, mutations in the WT1, AR and 5alpha-reductase genes are not common causes of isolated hypospadias...
  7. ncbi [Boy or girl? Molecular mechanisms in sex differentiation]
    A Wedell
    Institutionen för molekylärmedicin, avd för klinisk genetik
    Lakartidningen 97:449-57. 2000
    ..Developments in this field are nonetheless rapid, and molecular analyses will probably become more and more part and parcel of the workup of patients with a wide variety of disturbances in sexual development...
  8. ncbi Low frequency of RET mutations in Hirschsprung disease in Sweden
    P J Svensson
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Clin Genet 54:39-44. 1998
    ..We have screened Swedish population-based samples from 62 sporadic cases and seven familial cases of Hirschsprung disease with single strand conformation polymorphism (SSCP), and found five mutations...
  9. doi Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    K Hagenfeldt
    Department of Women and Child Health, Division of Obstetrics and Gynaecology, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden
    Hum Reprod 23:1607-13. 2008
    ..Low pregnancy rate has been reported in women with congenital adrenal hyperplasia (CAH) and little information on pregnancy and children is known...
  10. ncbi Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden
    A Strandqvist
    Departments of Paediatric Endocrinology A S, A Nordenst and Paediatric Surgery A Nordensk, Astrid Lindgren Children Hospital, Departments of Endocrinology, Metabolism, and Diabetes H F and Women s and Children s Health, and Center for Inherited Metabolic Diseases A W, Karolinska University Hospital, SE 171 76 Stockholm, Sweden and Departments of Molecular Medicine and Surgery H F, A W, Medical Epidemiology and Biostatistics P L, C N, Clinical Neuroscience L F, and Women s and Children s Health A S, A L H, A Nordensk, A Nordenst, Center for Molecular Medicine A Nordensk, and Child and Adolescent Psychiatry Research Center L F, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    J Clin Endocrinol Metab 99:1425-32. 2014
    ..Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation...
  11. doi The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians
    T Adamovic
    Department of Women s and Children s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Sex Dev 6:292-7. 2012
    ..In conclusion, the SF-1 gene may not play a significant role in the development of hypospadias in Caucasians...
  12. ncbi Parallel incidences of sudden infant death syndrome and infantile hypertrophic pyloric stenosis: a common cause?
    S Persson
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Pediatrics 108:E70. 2001
    ....
  13. ncbi Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations
    A Nordenskjold
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Am J Med Genet 80:269-72. 1998
    ..DNA sequence analysis disclosed a homozygous mutation in exon 4 of the 5alpha-reductase type 2 gene, alanine 228 for threonine. The heterozygous parents are first cousins of Pakistani origin...
  14. ncbi Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene
    R Betz
    Department of Molecular Medicine, CMM, Karolinska Hospital, Stockholm, S 171 76, Sweden
    Biochem Biophys Res Commun 254:413-6. 1999
    ..Mutation analysis in families with difficulties in parturition would therefore be of high interest. The results presented here provides data necessary for further investigations of the FP gene...
  15. ncbi Polymorphisms of estrogen receptor beta gene are associated with hypospadias
    A Beleza-Meireles
    Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    J Endocrinol Invest 29:5-10. 2006
    ..There are two isoforms of the human estrogen receptor, ESR1 and ESR2, which occur, with distinct tissue and cell patterns of expression. We hypothesized that modifications in these nuclear receptors' genes could lead to hypospadias...
  16. ncbi Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)
    P J Svensson
    Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 103:145-8. 1998
    ..In this family, three out of five members have the two mutations, but only one, a boy, has the Hirschsprung disease phenotype. This illustrates the complexity of the molecular background of Hirschsprung disease...
  17. ncbi WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin
    A Nordenskjold
    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden
    Hum Genet 93:115-20. 1994
    ..Since the majority of published WT1 mutations in DDS patients alter a RsrII restriction site in exon 9, we were able to perform PCR-based diagnosis in a female patient with early renal insufficiency and normal external genitalia...