Orstavik KH - Search Results

1

High frequency of skewed X inactivation in young breast cancer patients.

Kristiansen M, Langerød A, Knudsen GP, Weber BL, Børresen-Dale AL, Orstavik KH. Kristiansen M, et al. Among authors: orstavik kh. J Med Genet. 2002 Jan;39(1):30-3. doi: 10.1136/jmg.39.1.30. J Med Genet. 2002. PMID: 11826021 Free PMC article.

2

Twin study of genetic and aging effects on X chromosome inactivation.

Kristiansen M, Knudsen GP, Bathum L, Naumova AK, Sørensen TI, Brix TH, Svendsen AJ, Christensen K, Kyvik KO, Ørstavik KH. Kristiansen M, et al. Among authors: orstavik kh. Eur J Hum Genet. 2005 May;13(5):599-606. doi: 10.1038/sj.ejhg.5201398. Eur J Hum Genet. 2005. PMID: 15756296

3

Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.

Kristiansen M, Knudsen GP, Søyland A, Westvik J, Ørstavik KH. Kristiansen M, et al. Among authors: orstavik kh. Am J Med Genet. 2002 Mar 1;108(2):120-7. doi: 10.1002/ajmg.10245. Am J Med Genet. 2002. PMID: 11857561

4

X chromosome inactivation in cervical cancer patients.

Kristiansen M, Helland A, Kristensen GB, Olsen AO, Lønning PE, Børresen-Dale AL, Ørstavik KH. Kristiansen M, et al. Among authors: orstavik kh. Cancer Genet Cytogenet. 2003 Oct 1;146(1):73-6. doi: 10.1016/s0165-4608(03)00152-3. Cancer Genet Cytogenet. 2003. PMID: 14499700

5

Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation.

Ørstavik KH, Kristiansen M, Knudsen GP, Storhaug K, Vege A, Eiklid K, Abrahamsen TG, Smahi A, Steen-Johnsen J. Ørstavik KH, et al. Am J Med Genet A. 2006 Jan 1;140(1):31-9. doi: 10.1002/ajmg.a.31026. Am J Med Genet A. 2006. PMID: 16333836

6

X-inactivation patterns in carriers of X-linked myotubular myopathy.

Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik KH, Wallgren-Pettersson C. Kristiansen M, et al. Among authors: orstavik kh. Neuromuscul Disord. 2003 Aug;13(6):468-71. doi: 10.1016/s0960-8966(03)00067-1. Neuromuscul Disord. 2003. PMID: 12899873

7

High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer.

Kristiansen M, Knudsen GP, Maguire P, Margolin S, Pedersen J, Lindblom A, Ørstavik KH. Kristiansen M, et al. Among authors: orstavik kh. J Med Genet. 2005 Nov;42(11):877-80. doi: 10.1136/jmg.2005.032433. Epub 2005 May 6. J Med Genet. 2005. PMID: 15879497 Free PMC article.

8

Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother.

Tanner SM, Orstavik KH, Kristiansen M, Lev D, Lerman-Sagie T, Sadeh M, Liechti-Gallati S. Tanner SM, et al. Among authors: orstavik kh. Hum Genet. 1999 Mar;104(3):249-53. doi: 10.1007/s004390050943. Hum Genet. 1999. PMID: 10323249

9

High frequency of skewed X-chromosome inactivation in females with autoimmune thyroid disease: a possible explanation for the female predisposition to thyroid autoimmunity.

Brix TH, Knudsen GP, Kristiansen M, Kyvik KO, Orstavik KH, Hegedüs L. Brix TH, et al. Among authors: orstavik kh. J Clin Endocrinol Metab. 2005 Nov;90(11):5949-53. doi: 10.1210/jc.2005-1366. Epub 2005 Aug 16. J Clin Endocrinol Metab. 2005. PMID: 16105963

10

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.

Knudsen GP, Neilson TC, Pedersen J, Kerr A, Schwartz M, Hulten M, Bailey ME, Orstavik KH. Knudsen GP, et al. Among authors: orstavik kh. Eur J Hum Genet. 2006 Nov;14(11):1189-94. doi: 10.1038/sj.ejhg.5201682. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823396

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