Orstavik KH - Search Results

1

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

2

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

3

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.

4

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.

5

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.

6

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

7

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.

Orstavik KH, Tangsrud SE, Kiil R, Hansteen IL, Steen-Johnsen J, Cassidy SB, Martony A, Anvret M, Tommerup N, Bröndum-Nielsen K. Orstavik KH, et al. Am J Med Genet. 1992 Nov 1;44(4):534-8. doi: 10.1002/ajmg.1320440431. Am J Med Genet. 1992. PMID: 1442901

8

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.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

107 results

Search Page