Wedell A - Search Results

1

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, Nordenskjöld A, Ritzén EM, Nilsson KO, Ivarsson SA, Grandell U, Wedell A. Giwercman YL, et al. Among authors: wedell a. J Clin Endocrinol Metab. 2002 Jun;87(6):2623-8. doi: 10.1210/jcem.87.6.8518. J Clin Endocrinol Metab. 2002. PMID: 12050225

2

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.

Vaz R, Wincent J, Elfissi N, Rosengren Forsblad K, Pettersson M, Naess K, Wedell A, Wredenberg A, Lindstrand A, Ygberg S. Vaz R, et al. Among authors: wedell a. Biomedicines. 2022 Dec 7;10(12):3171. doi: 10.3390/biomedicines10123171. Biomedicines. 2022. PMID: 36551928 Free PMC article.

3

Precision medicine in rare diseases: What is next?

Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Tesi B, et al. Among authors: wedell a. J Intern Med. 2023 Oct;294(4):397-412. doi: 10.1111/joim.13655. Epub 2023 Jun 1. J Intern Med. 2023. PMID: 37211972 Review.

4

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

Wedell A, Ritzén EM, Haglund-Stengler B, Luthman H. Wedell A, et al. Proc Natl Acad Sci U S A. 1992 Aug 1;89(15):7232-6. doi: 10.1073/pnas.89.15.7232. Proc Natl Acad Sci U S A. 1992. PMID: 1496017 Free PMC article.

5

Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency.

Thilén A, Woods KA, Perry LA, Savage MO, Wedell A, Ritzén EM. Thilén A, et al. Among authors: wedell a. Acta Paediatr. 1995 Aug;84(8):894-8. doi: 10.1111/j.1651-2227.1995.tb13788.x. Acta Paediatr. 1995. PMID: 7488813

6

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.

Wedell A, Stengler B, Luthman H. Wedell A, et al. Hum Genet. 1994 Jul;94(1):50-4. doi: 10.1007/BF02272841. Hum Genet. 1994. PMID: 8034294

7

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

Wedell A, Thilén A, Ritzén EM, Stengler B, Luthman H. Wedell A, et al. J Clin Endocrinol Metab. 1994 May;78(5):1145-52. doi: 10.1210/jcem.78.5.8175971. J Clin Endocrinol Metab. 1994. PMID: 8175971

8

An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia.

Lajic S, Wedell A. Lajic S, et al. Among authors: wedell a. Hum Genet. 1996 Aug;98(2):182-4. doi: 10.1007/s004390050186. Hum Genet. 1996. PMID: 8698338

9

The use of adrenalectomy as a treatment for congenital adrenal hyperplasia.

Van Wyk JJ, Gunther DF, Ritzén EM, Wedell A, Cutler GB Jr, Migeon CJ, New MI. Van Wyk JJ, et al. Among authors: wedell a. J Clin Endocrinol Metab. 1996 Sep;81(9):3180-90. doi: 10.1210/jcem.81.9.8784066. J Clin Endocrinol Metab. 1996. PMID: 8784066 No abstract available.

10

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.

Wedell A. Wedell A. Clin Lab Med. 1996 Mar;16(1):125-37. Clin Lab Med. 1996. PMID: 8867587 Review.

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