Kristiansen M - 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. 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

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. Am J Med Genet. 2002 Mar 1;108(2):120-7. doi: 10.1002/ajmg.10245. Am J Med Genet. 2002. PMID: 11857561

3

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. Cancer Genet Cytogenet. 2003 Oct 1;146(1):73-6. doi: 10.1016/s0165-4608(03)00152-3. Cancer Genet Cytogenet. 2003. PMID: 14499700

4

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. Eur J Hum Genet. 2005 May;13(5):599-606. doi: 10.1038/sj.ejhg.5201398. Eur J Hum Genet. 2005. PMID: 15756296

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. Among authors: kristiansen m. 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

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: kristiansen m. Hum Genet. 1999 Mar;104(3):249-53. doi: 10.1007/s004390050943. Hum Genet. 1999. PMID: 10323249

7

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. Neuromuscul Disord. 2003 Aug;13(6):468-71. doi: 10.1016/s0960-8966(03)00067-1. Neuromuscul Disord. 2003. PMID: 12899873

8

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. 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.

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: kristiansen m. 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

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.

Jungbluth H, Sewry CA, Buj-Bello A, Kristiansen M, Ørstavik KH, Kelsey A, Manzur AY, Mercuri E, Wallgren-Pettersson C, Muntoni F. Jungbluth H, et al. Among authors: kristiansen m. Neuromuscul Disord. 2003 Jan;13(1):55-9. doi: 10.1016/s0960-8966(02)00194-3. Neuromuscul Disord. 2003. PMID: 12467733

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