Robertson GL - Search Results

1

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: robertson gl. J Clin Endocrinol Metab. 2002 Jul;87(7):3351-5. doi: 10.1210/jcem.87.7.8677. J Clin Endocrinol Metab. 2002. PMID: 12107248

2

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: robertson gl. Eur J Hum Genet. 2004 Jan;12(1):44-51. doi: 10.1038/sj.ejhg.5201086. Eur J Hum Genet. 2004. PMID: 14673472

3

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: robertson gl. Clin Endocrinol (Oxf). 2004 Jan;60(1):125-36. doi: 10.1111/j.1365-2265.2004.01953.x. Clin Endocrinol (Oxf). 2004. PMID: 14678298

4

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: robertson gl. J Clin Endocrinol Metab. 2004 Sep;89(9):4521-31. doi: 10.1210/jc.2003-031813. J Clin Endocrinol Metab. 2004. PMID: 15356057

5

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. Among authors: robertson gl. Clin Endocrinol (Oxf). 2005 Aug;63(2):207-16. doi: 10.1111/j.1365-2265.2005.02327.x. Clin Endocrinol (Oxf). 2005. PMID: 16060916

6

Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.

Faerch M, Christensen JH, Corydon TJ, Kamperis K, de Zegher F, Gregersen N, Robertson GL, Rittig S. Faerch M, et al. Among authors: robertson gl. Clin Endocrinol (Oxf). 2008 Mar;68(3):395-403. doi: 10.1111/j.1365-2265.2007.03054.x. Epub 2007 Oct 17. Clin Endocrinol (Oxf). 2008. PMID: 17941907

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: robertson gl. 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. Among authors: robertson gl. 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

Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.

McLeod JF, Kovács L, Gaskill MB, Rittig S, Bradley GS, Robertson GL. McLeod JF, et al. Among authors: robertson gl. J Clin Endocrinol Metab. 1993 Sep;77(3):599A-599G. doi: 10.1210/jcem.77.3.8370682. J Clin Endocrinol Metab. 1993. PMID: 8370682

10

Genetic basis of familial neurohypophyseal diabetes insipidus.

Hansen LK, Rittig S, Robertson GL. Hansen LK, et al. Among authors: robertson gl. Trends Endocrinol Metab. 1997 Nov;8(9):363-72. doi: 10.1016/s1043-2760(97)00157-4. Trends Endocrinol Metab. 1997. PMID: 18406826

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