Siggaard C - Search Results

1

Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.

Siggaard C, Christensen JH, Corydon TJ, Rittig S, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Siggaard C, et al. Clin Endocrinol (Oxf). 2005 Aug;63(2):207-16. doi: 10.1111/j.1365-2265.2005.02327.x. Clin Endocrinol (Oxf). 2005. PMID: 16060916

2

Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine(2) in the vasopressin moiety of the hormone precursor.

Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL. Rittig S, et al. Among authors: siggaard c. J Clin Endocrinol Metab. 2002 Jul;87(7):3351-5. doi: 10.1210/jcem.87.7.8677. J Clin Endocrinol Metab. 2002. PMID: 12107248

3

Autosomal dominant familial neurohypophyseal diabetes insipidus.

Christensen JH, Siggaard C, Rittig S. Christensen JH, et al. Among authors: siggaard c. APMIS Suppl. 2003;(109):92-5. APMIS Suppl. 2003. PMID: 12874957 Review.

4

Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S. Christensen JH, et al. Among authors: siggaard c. Eur J Hum Genet. 2004 Jan;12(1):44-51. doi: 10.1038/sj.ejhg.5201086. Eur J Hum Genet. 2004. PMID: 14673472

5

Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.

Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S. Christensen JH, et al. Among authors: siggaard c. Clin Endocrinol (Oxf). 2004 Jan;60(1):125-36. doi: 10.1111/j.1365-2265.2004.01953.x. Clin Endocrinol (Oxf). 2004. PMID: 14678298

6

Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus.

Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S. Christensen JH, et al. Among authors: siggaard c. J Clin Endocrinol Metab. 2004 Sep;89(9):4521-31. doi: 10.1210/jc.2003-031813. J Clin Endocrinol Metab. 2004. PMID: 15356057

7

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J, Pedersen EB. Rittig S, et al. Among authors: siggaard c. Am J Hum Genet. 1996 Jan;58(1):107-17. Am J Hum Genet. 1996. PMID: 8554046 Free PMC article.

8

Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.

Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Siggaard C, et al. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. doi: 10.1210/jcem.84.8.5869. J Clin Endocrinol Metab. 1999. PMID: 10443701

9

[Congenital nephrogenic diabetes insipidus. A four-month-old girl with delayed psychomotor development].

Hagstrøm S, Siggaard C, Kamperis K, Christensen JH, Rittig S. Hagstrøm S, et al. Among authors: siggaard c. Ugeskr Laeger. 2005 Apr 18;167(16):1759-61. Ugeskr Laeger. 2005. PMID: 15898609 Danish. No abstract available.

10

A novel splicing mutation in the V2 vasopressin receptor.

Kamperis K, Siggaard C, Herlin T, Nathan E, Hertz JM, Rittig S. Kamperis K, et al. Among authors: siggaard c. Pediatr Nephrol. 2000 Nov;15(1-2):43-9. doi: 10.1007/s004670000431. Pediatr Nephrol. 2000. PMID: 11095010

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