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Anna Wedell

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TOP 3
Henrik Falhammar; Helena Filipsson Nyström; Kerstin Brismar; Anna Wedell; Marja Thorén
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.
Tatja Hirvikoski; Anna Nordenström; Martin Ritzén; Anna Wedell; Svetlana Lajic
Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.
Michela Barbaro; Fernanda Soardi; Anna Wedell; Maricilda Palandi de Mello; Svetlana Lajic
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.

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All Publications

2013: Henrik Falhammar; Helena Filipsson Nyström; Kerstin Brismar; Anna Wedell; Marja Thorén
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.
European journal of endocrinology / European Federation of Endocrine Societies 2013;168(3):331-41.
2012: Tatja Hirvikoski; Anna Nordenström; Martin Ritzén; Anna Wedell; Svetlana Lajic
Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.
The Journal of clinical endocrinology and metabolism 2012;97(6):1881-3.
2012: Michela Barbaro; Fernanda Soardi; Anna Wedell; Maricilda Palandi de Mello; Svetlana Lajic
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH.
Clinical endocrinology 2012;76(5):766-8.
2012: S Menabò; A Nicoletti; Piero Pirazzoli; Anna Wedell; Lilia Baldazzi; Antonio Balsamo; Michela Barbaro; V Conti; Alessandro Cicognani
A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
Journal of endocrinological investigation 2012;35(3):298-305.
2012: Martine Cools; M Barbaro; Hennie T Brüggenwirth; Remko Hersmus; P Hoebeke; L H J Looijenga; H Stoop; Anna Wedell; Katja P Wolffenbuttel; Stenvert L S Drop
Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.
European journal of endocrinology / European Federation of Endocrine Societies 2012;166(2):341-9.
2012: Michela Barbaro; Jackie Cook; Kristina Lagerstedt-Robinson; Anna Wedell
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.
International journal of endocrinology 2012;2012():504904.
2012: Michela Barbaro; Susanne Bens; Jürgen Brämswig; Andrea Haake; Paul-Martin Holterhus; Juan Pedro Lopez-Siguero; Udo Menken; Monika Mix; Michael Peter; Wolfgang G Sippell; Anna Wedell; Felix G Riepe
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia.
Hormone research in pædiatrics 2012;77(2):100-7.
2011: Magnus K Bjursell; Henk J Blom; Göran Brandberg; Jordi Asin Cayuela; Martin L Engvall; Maria Falkenberg; Claes M Gustafsson; Maria Halldin; Cornelis Jakobs; Nicole Lesko; Joakim Lundeberg; Desiree Smith; Eduard Struys; Ulrika von Döbeln; Shanti Balasubramaniam; Anna Wedell
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.
American journal of human genetics 2011;89(4):507-15.
2011: M Barbaro; Anna Wedell; Anna Nordenström
Disorders of sex development.
Seminars in fetal & neonatal medicine 2011;16(2):119-27.
2011: M Barbaro; M Cools; Stenvert L S Drop; Leendert H J Looijenga; Anna Wedell
Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(4):181-7.
2011: Anna Wedell
Molecular genetics of 21-hydroxylase deficiency.
Endocrine development 2011;20():80-7.
2010: Jessica Frygelius; Lars Arvestad; Anna Wedell; Virpi Töhönen
Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins.
Evolution & development 2010;12(3):329-42.
2009: Michela Barbaro; Antonio Balsamo; Britt-Marie Anderlid; Anne Grethe Myhre; Monia Gennari; Annalisa Nicoletti; Maria Carla Pittalis; Mikael Oscarson; Anna Wedell
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
European journal of human genetics : EJHG 2009;17(11):1439-47.
2009: Rolf Wibom; Francesco M Lasorsa; Virpi Töhönen; Michela Barbaro; Fredrik H Sterky; Thomas Kucinski; Karin Naess; Monica Jonsson; Ciro Leonardo Pierri; Ferdinando Palmieri; Anna Wedell
AGC1 deficiency associated with global cerebral hypomyelination.
The New England journal of medicine 2009;361(5):489-95.
2008: Michela Barbaro; Alessandro Cicognani; A Balsamo; A Löfgren; L Baldazzi; Anna Wedell; Mikael Oscarson
Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
Clinical genetics 2008;73(5):453-64.
2007: Michela Barbaro; Mikael Oscarson; Jacqueline Schoumans; Johan Staaf; Sten-A Ivarsson; Anna Wedell
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
The Journal of clinical endocrinology and metabolism 2007;92(8):3305-13.
2007: Michela Barbaro; Mikael Oscarson; Ingrid Almskog; Hans Hamberg; Anna Wedell
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
Clinical endocrinology 2007;66(6):822-6.
2007: Tiina Robins; Christine Bellanne-Chantelot; Michela Barbaro; Sylvie Cabrol; Anna Wedell; Svetlana Lajic
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.
Journal of molecular medicine (Berlin, Germany) 2007;85(3):247-55.
2007: Tatja Hirvikoski; Anna Nordenström; Torun Lindholm; Frank Lindblad; E Martin Ritzén; Anna Wedell; Svetlana Lajic
Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone.
The Journal of clinical endocrinology and metabolism 2007;92(2):542-8.
2007: J Frygelius; Mikael Oscarson; K Nordqvist; Anna Wedell; Virpi Töhönen
The reproductive tissue specific cystatin subgroup of genes: expression during gonadal development in wildtype and testatin knockout animals.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2007;1(6):363-72.
2007: Anna Nordenström; Maguelone G Forest; Anna Wedell
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis.
Hormone research 2007;68(4):204-8.
2007: Ana Beleza-Meireles; Michela Barbaro; Anna Wedell; Virpi Töhönen; Agneta Nordenskjöld
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias.
Reproductive biology and endocrinology : RB&E 2007;5():8.
2007: Sebastian Gidlöf; Anna Wedell; Anna Nordenström
Gestational age correlates to genotype in girls with CYP21 deficiency.
The Journal of clinical endocrinology and metabolism 2007;92(1):246-9.
2006: Tiina Robins; Jonas Carlsson; Maria Sunnerhagen; Anna Wedell; Bengt Persson
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Molecular endocrinology (Baltimore, Md.) 2006;20(11):2946-64.
2006: Michela Barbaro; Lilia Baldazzi; Antonio Balsamo; Svetlana Lajic; Tiina Robins; L Barp; Piero Pirazzoli; Emanuele Cacciari; Alessandro Cicognani; Anna Wedell
Functional studies of two novel and two rare mutations in the 21-hydroxylase gene.
Journal of molecular medicine (Berlin, Germany) 2006;84(6):521-8.
2005: Virpi Töhönen; Jessica Frygelius; Majid Mohammadieh; Ulrik Kvist; Lauri J Pelliniemi; Kevin O'Brien; Katarina Nordqvist; Anna Wedell
Normal sexual development and fertility in testatin knockout mice.
Molecular and cellular biology 2005;25(12):4892-902.
2005: Tiina Robins; Michela Barbaro; Svetlana Lajic; Anna Wedell
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2005;90(4):2148-53.
2004: Svetlana Lajic; Anna Nordenström; E Martin Ritzén; Anna Wedell
Prenatal treatment of congenital adrenal hyperplasia.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151 Suppl 3():U63-9.
2004: Ulla Enberg; Cristina Volpe; Anders Höög; Anna Wedell; Lars-Ove Farnebo; Marja Thorén; Bertil Hamberger
Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(1):73-85.
2004: Michela Barbaro; Svetlana Lajic; Lilia Baldazzi; Antonio Balsamo; Piero Pirazzoli; Alessandro Cicognani; Anna Wedell; Emanuele Cacciari
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2004;89(5):2402-7.
2003: Virpi Töhönen; E Martin Ritzén; Katarina Nordqvist; Anna Wedell
Male sex determination and prenatal differentiation of the testis.
Endocrine development 2003;5():1-23.
2002: Anna Nordenström; Anna Servin; Gunilla Bohlin; Agne Larsson; Anna Wedell
Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 2002;87(11):5119-24.
2002: Svetlana Lajić; Séverine Clauin; Tiina Robins; Patrick Vexiau; Hélène Blanché; Christine Bellanne-Chantelot; Anna Wedell
Novel mutations in CYP21 detected in individuals with hyperandrogenism.
The Journal of clinical endocrinology and metabolism 2002;87(6):2824-9.
2002: Yvonne Lundberg Giwercman; Agneta Nordenskjöld; E Martin Ritzén; Karl Olof Nilsson; Sten-A Ivarsson; Ulla Grandell; Anna Wedell
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.
The Journal of clinical endocrinology and metabolism 2002;87(6):2623-8.
2002: Annika Eriksson; Virpi Töhönen; Anna Wedell; Katarina Nordqvist
Isolation of the human testatin gene and analysis in patients with abnormal gonadal development.
Molecular human reproduction 2002;8(1):8-15.
2001: S Lajić; Tiina Robins; N Krone; H P Schwarz; Anna Wedell
CYP21 mutations in simple virilizing congenital adrenal hyperplasia.
Journal of molecular medicine (Berlin, Germany) 2001;79(10):581-6.
2001: Anna Nordenström; Anna Wedell; Lars Hagenfeldt; Claude Marcus; Agne Larsson
Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.
Pediatrics 2001;108(4):E68.
2001: Ulla Enberg; Lars-Ove Farnebo; Anna Wedell; S Gröndal; M Thorén; Lars Grimelius; Magnus Kjellman; Martin Bäckdahl; Bertil Hamberger
In vitro release of aldosterone and cortisol in human adrenal adenomas correlates to mRNA expression of steroidogenic enzymes for genes CYP11B2 and CYP17.
World journal of surgery 2001;25(7):957-66.
2001: Yvonne Lundberg Giwercman; A Nikoshkov; B Byström; Stefan Arver; Anna Wedell
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility.
Clinical endocrinology 2001;54(6):827-34.
2000: Aleksander Giwercman; Thuri Kledal; Marianne Schwartz; Yvonne Lundberg Giwercman; Henrik Leffers; H Zazzi; Anna Wedell; Niels E Skakkebaek
Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene.
The Journal of clinical endocrinology and metabolism 2000;85(6):2253-9.
2000: Anna Wedell; M Ritzén; Agneta Nordenskjöld
[Boy or girl? Molecular mechanisms in sex differentiation].
Läkartidningen 2000;97(5):449-57.
2000: Y Lundberg Giwercman; A Nikoshkov; K Lindsten; B Byström; Ake Pousette; J Knudtzon; J Alm; Anna Wedell
Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor.
Hormone research 2000;53(2):83-8.
2000: E Martin Ritzén; Svetlana Lajic; Anna Wedell
How can molecular biology contribute to the management of congenital adrenal hyperplasia?
Hormone research 2000;53 Suppl 1():34-7.
1999: Anna Nordenström; A Thilén; Lars Hagenfeldt; Agne Larsson; Anna Wedell
Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1999;84(5):1505-9.
1999: Svetlana Lajic; A Nikoshkov; Mikael Holst; Anna Wedell
Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).
Biochemical and biophysical research communications 1999;257(2):384-90.
1999: Anna Nordenström; Claude Marcus; M Axelson; Anna Wedell; E Martin Ritzén
Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity.
The Journal of clinical endocrinology and metabolism 1999;84(4):1210-3.
1999: Magnus Kjellman; Mikael Holst; Martin Bäckdahl; Catharina Larsson; Lars-Ove Farnebo; Anna Wedell
No overrepresentation of congenital adrenal hyperplasia in patients with adrenocortical tumours.
Clinical endocrinology 1999;50(3):343-6.
1999: A Nikoshkov; Alberto Falorni; Svetlana Lajic; Stefano Laureti; Anna Wedell; K Lernmark; Holger Luthman
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.
Journal of immunology (Baltimore, Md. : 1950) 1999;162(4):2422-6.
1998: Svetlana Lajic; Anna Wedell; T H Bui; E Martin Ritzén; Mikael Holst
Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 1998;83(11):3872-80.
1998: Y Lundberg Giwercman; A Nikoshkov; K Lindsten; B Byström; Ake Pousette; Alexander V Chibalin; S Arvidsson; Anatoly Tiulpakov; Tatyana Semitcheva; Valentina Peterkova; K Hagenfeldt; E Martin Ritzén; Anna Wedell
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.
Human genetics 1998;103(4):529-31.
1998: Anna Wedell
An update on the molecular genetics of congenital adrenal hyperplasia: diagnostic and therapeutic aspects.
Journal of pediatric endocrinology & metabolism : JPEM 1998;11(5):581-9.
1998: A Nikoshkov; Svetlana Lajic; A Vlamis-Gardikas; L Tranebjaerg; Mikael Holst; Anna Wedell; Holger Luthman
Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.
The Journal of biological chemistry 1998;273(11):6163-5.
1998: Anna Wedell
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
Acta paediatrica (Oslo, Norway : 1992) 1998;87(2):159-64.
1997: Svetlana Lajic; T H Bui; Mikael Holst; M Ritzén; Anna Wedell
[Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses].
Läkartidningen 1997;94(50):4781-6.
1997: Daniel F Gunther; Timothy Bukowski; E Martin Ritzén; Anna Wedell; Judson Vanwyk
Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studies.
The Journal of clinical endocrinology and metabolism 1997;82(10):3324-7.
1997: Svetlana Lajic; A Levo; A Nikoshkov; Y Lundberg; J Partanen; Anna Wedell
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
Human genetics 1997;99(6):704-9.
1997: A Nikoshkov; Svetlana Lajic; Mikael Holst; Anna Wedell; Holger Luthman
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism 1997;82(1):194-9.
1996: Judson Vanwyk; Daniel F Gunther; E Martin Ritzén; Anna Wedell; G B Cutler; Claude J Migeon; M I New
The use of adrenalectomy as a treatment for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism 1996;81(9):3180-90.
1996: Svetlana Lajic; Anna Wedell
An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.
Human genetics 1996;98(2):182-4.
1995: A Thilén; Kathryn A Woods; L A Perry; M O Savage; Anna Wedell; E Martin Ritzén
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency.
Acta paediatrica (Oslo, Norway : 1992) 1995;84(8):894-8.
1994: Anna Wedell; B Stengler; Holger Luthman
Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
Human genetics 1994;94(1):50-4.
1994: Anna Wedell; A Thilén; E Martin Ritzén; B Stengler; Holger Luthman
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
The Journal of clinical endocrinology and metabolism 1994;78(5):1145-52.
1994: Svante Norgren; Juleen R Zierath; Anna Wedell; Harriet Wallberg-Henriksson; Holger Luthman
Regulation of human insulin receptor RNA splicing in vivo.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(4):1465-9.
1994: Anna Wedell; X Chun; Holger Luthman
A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the swedish population.
Human genetics 1994;93(2):204-6.
1994: G Lundin; Anna Wedell; S Thunell; Maria Anvret
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
Human genetics 1994;93(1):59-62.
1993: Anna Wedell; Holger Luthman
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.
Human molecular genetics 1993;2(5):499-504.
1993: Anna Wedell; Holger Luthman
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.
Human genetics 1993;91(3):236-40.
1993: Holger Luthman; I Delin; A Glaser; R Luft; Svante Norgren; Anna Wedell
Molecular genetics of NIDDM and the genes for insulin and insulin receptor.
Advances in experimental medicine and biology 1993;334():101-11.
1993: M Sten-Linder; Anna Wedell; L Iselius; S Efendic; R Luft; Holger Luthman
DNA polymorphisms in the human tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region in relation to glucose and insulin responses.
Diabetologia 1993;36(1):25-32.
1992: Anna Wedell; E Martin Ritzén; B Haglund-Stengler; Holger Luthman
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(15):7232-6.
1991: M Sten-Linder; S Vilhelmsdotter; Anna Wedell; I Stern; T Pollare; P Arner; S Efendić; R Luft; Holger Luthman
Screening for insulin receptor gene DNA polymorphisms associated with glucose intolerance in a Scandinavian population.
Diabetologia 1991;34(4):265-70.