Wedell, Anna

Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation

Wedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 370

Sex-Typed Toy Play Behavior Correlates with the Degree of Prenatal Androgen Exposure Assessed by CYP21 Genotype in Girls with Congenital Adrenal Hyperplasia

Nordenström, A., Servin, A., Bohlin, G., Larsson, A., & Wedell, A. (2002) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 256

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

Gidlöf, S., Falhammar, H., Thilén, A., von Döbeln, U., Ritzén, M., Wedell, A., & Nordenström, A. (2013) · The Lancet Diabetes & Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 187

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Stödberg, T., McTague, A., Ruiz, A. J., Hirata, H., Zhen, J., Long, P., Farabella, I., Meyer, E., Kawahara, A., Vassallo, G., et al. (2015) · Nature Communications

Epilepsy research and treatmentIon channel regulation and function

Cited by 184

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

Falhammar, H., Nyström, H. F., Ekström, U., Granberg, S., Wedell, A., & Thorén, M. (2012) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 170

Long-Term Somatic Follow-Up of Prenatally Treated Children with Congenital Adrenal Hyperplasia1

Lajic, S., Wedell, A., Bui, T.-H., Ritzén, E. M., & Holst, M. (1998) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 164

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations

Wedell, A., & Luthman, H. (1993) · Human Molecular Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 160

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations

Wedell, A., Ritzén, E. M., Haglund-Stengler, B., & Luthman, H. (1992) · Proceedings of the National Academy of Sciences

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 150

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden: A 26-Year Longitudinal Prospective Population-Based Study

Gidlöf, S., Wedell, A., Guthenberg, C., von Döbeln, U., & Nordenström, A. (2014) · JAMA Pediatrics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 119

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, A. L., Wedell, A., Norrby, C., Nordenskjöld, A., Frisén, L., & Nordenström, A. (2014) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 111

Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Falhammar, H., Filipsson Nyström, H., Wedell, A., & Thorén, M. (2011) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 103

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia

Falhammar, H., Filipsson Nyström, H., Wedell, A., Brismar, K., & Thorén, M. (2013) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 82

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

Wedell, A., & Luthman, H. (1993) · Human Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 81

Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint

Hirvikoski, T., Nordenström, A., Wedell, A., Ritzén, M., & Lajic, S. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 80

Biochemical and genetic diagnosis of 21-hydroxylase deficiency

Falhammar, H., Wedell, A., & Nordenström, A. (2015) · Endocrine

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 80

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment

Wedell, A. (1998) · Acta Paediatrica

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 73

Prenatal treatment of congenital adrenal hyperplasia

Lajic, S., Nordenstrom, A., Ritzen, E., & Wedell, A. (2004) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 67

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy

Gineste, C., Hernandez, A., Ivarsson, N., Cheng, A. J., Naess, K., Wibom, R., Lesko, N., Bruhn, H., Wedell, A., Freyer, C., et al. (2015) · Human Molecular Genetics

Mitochondrial Function and PathologyMuscle Physiology and Disorders

Cited by 21