Nordenskjöld A - Search Results

1

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.

Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M, Janson PO, Hagenfeldt K. Nordenskjöld A, et al. J Clin Endocrinol Metab. 2008 Feb;93(2):380-6. doi: 10.1210/jc.2007-0556. Epub 2007 Nov 20. J Clin Endocrinol Metab. 2008. PMID: 18029470

2

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family.

Nordenskjöld A, Ivarsson SA. Nordenskjöld A, et al. J Clin Endocrinol Metab. 1998 Sep;83(9):3236-8. doi: 10.1210/jcem.83.9.5125. J Clin Endocrinol Metab. 1998. PMID: 9745434

3

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: nordenskjold 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

4

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

Frisén L, Lagerstedt K, Tapper-Persson M, Kockum I, Nordenskjöld A. Frisén L, et al. Among authors: nordenskjold a. J Med Genet. 2003 Apr;40(4):e49. doi: 10.1136/jmg.40.4.e49. J Med Genet. 2003. PMID: 12676922 Free PMC article. No abstract available.

5

Genome-wide linkage analysis for hypospadias susceptibility genes.

Frisén L, Söderhäll C, Tapper-Persson M, Luthman H, Kockum I, Nordenskjöld A. Frisén L, et al. Among authors: nordenskjold a. J Urol. 2004 Oct;172(4 Pt 1):1460-3. doi: 10.1097/01.ju.0000138343.20069.5f. J Urol. 2004. PMID: 15371870

6

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias.

Thai HT, Kalbasi M, Lagerstedt K, Frisén L, Kockum I, Nordenskjöld A. Thai HT, et al. Among authors: nordenskjold a. J Clin Endocrinol Metab. 2005 Dec;90(12):6695-8. doi: 10.1210/jc.2005-0446. Epub 2005 Sep 20. J Clin Endocrinol Metab. 2005. PMID: 16174723

7

Polymorphisms of estrogen receptor beta gene are associated with hypospadias.

Beleza-Meireles A, Omrani D, Kockum I, Frisén L, Lagerstedt K, Nordenskjöld A. Beleza-Meireles A, et al. Among authors: nordenskjold a. J Endocrinol Invest. 2006 Jan;29(1):5-10. doi: 10.1007/BF03349170. J Endocrinol Invest. 2006. PMID: 16553027

8

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Falhammar H, Filipsson H, Holmdahl G, Janson PO, Nordenskjöld A, Hagenfeldt K, Thorén M. Falhammar H, et al. Among authors: nordenskjold a. J Clin Endocrinol Metab. 2007 Jan;92(1):110-6. doi: 10.1210/jc.2006-1350. Epub 2006 Oct 10. J Clin Endocrinol Metab. 2007. PMID: 17032717

9

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias.

Beleza-Meireles A, Lundberg F, Lagerstedt K, Zhou X, Omrani D, Frisén L, Nordenskjöld A. Beleza-Meireles A, et al. Among authors: nordenskjold a. Eur J Hum Genet. 2007 Apr;15(4):405-10. doi: 10.1038/sj.ejhg.5201777. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264867

10

Risk factors for hypospadias in the estrogen receptor 2 gene.

Beleza-Meireles A, Kockum I, Lundberg F, Söderhäll C, Nordenskjöld A. Beleza-Meireles A, et al. Among authors: nordenskjold a. J Clin Endocrinol Metab. 2007 Sep;92(9):3712-8. doi: 10.1210/jc.2007-0543. Epub 2007 Jun 19. J Clin Endocrinol Metab. 2007. PMID: 17579196

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