Orstavik KH - Search Results

1

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome.

Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L. Orstavik KH, et al. Among authors: orstavik re. Am J Med Genet. 1996 Jul 12;64(1):31-4. doi: 10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8826445

2

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

3

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome.

Orstavik RE, Tommerup N, Eiklid K, Orstavik KH. Orstavik RE, et al. Among authors: orstavik kh. Am J Med Genet. 1995 Mar 27;56(2):210-4. doi: 10.1002/ajmg.1320560219. Am J Med Genet. 1995. PMID: 7625447

4

X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets.

Orstavik KH, Orstavik RE, Halse J, Knudtzon J. Orstavik KH, et al. Among authors: orstavik re. J Med Genet. 1996 Aug;33(8):700-3. doi: 10.1136/jmg.33.8.700. J Med Genet. 1996. PMID: 8863165 Free PMC article.

5

X chromosome inactivation in carriers of Barth syndrome.

Orstavik KH, Orstavik RE, Naumova AK, D'Adamo P, Gedeon A, Bolhuis PA, Barth PG, Toniolo D. Orstavik KH, et al. Among authors: orstavik re. Am J Hum Genet. 1998 Nov;63(5):1457-63. doi: 10.1086/302095. Am J Hum Genet. 1998. PMID: 9792874 Free PMC article.

6

Skewed X chromosome inactivation in a female with haemophilia B and in her non-carrier daughter: a genetic influence on X chromosome inactivation?

Orstavik KH, Orstavik RE, Schwartz M. Orstavik KH, et al. Among authors: orstavik re. J Med Genet. 1999 Nov;36(11):865-6. J Med Genet. 1999. PMID: 10636734 Free PMC article. No abstract available.

7

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.

8

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

9

Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.

Schwartz M, Békássy A, Donnér M, Hertel T, Hreidarson S, Kerndrup G, Stormorken H, Stokland T, Tranebjaerg L, Orstavik KH, Skovby F. Schwartz M, et al. Among authors: orstavik kh. Thromb Haemost. 1996 Apr;75(4):546-50. Thromb Haemost. 1996. PMID: 8743175

10

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

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