Ørstavik KH - Search Results

1

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.

Ørstavik KH, Knudsen GP, Nordgarden H, Ormerod E, Strømme P, Lazarou LP, Rosser LG, Prescott T, Houge G. Ørstavik KH, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1510-3. doi: 10.1002/ajmg.a.31797. Am J Med Genet A. 2007. PMID: 17568423

2

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother.

Misceo D, Orstavik KH, Lybaek H, Sandvig I, Ormerod E, Houge G, Frengen E. Misceo D, et al. Among authors: orstavik kh. Am J Med Genet A. 2009 Dec;149A(12):2877-81. doi: 10.1002/ajmg.a.33106. Am J Med Genet A. 2009. PMID: 19938092 No abstract available.

3

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Orstavik KH, McFadden N, Hagelsteen J, Ormerod E, van der Hagen CB. Orstavik KH, et al. J Med Genet. 1994 Jul;31(7):570-2. doi: 10.1136/jmg.31.7.570. J Med Genet. 1994. PMID: 7966195 Free PMC article.

4

Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome?

Orstavik KH, Strömme P, Spetalen S, Flage T, Westvik J, Vesterhus P, Skjeldal O. Orstavik KH, et al. Am J Med Genet. 1995 Oct 23;59(1):92-5. doi: 10.1002/ajmg.1320590118. Am J Med Genet. 1995. PMID: 8849019

5

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.

6

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

7

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion.

Lybaek H, Ørstavik KH, Prescott T, Hovland R, Breilid H, Stansberg C, Steen VM, Houge G. Lybaek H, et al. Among authors: orstavik kh. Eur J Hum Genet. 2009 Jul;17(7):904-10. doi: 10.1038/ejhg.2008.261. Epub 2009 Jan 21. Eur J Hum Genet. 2009. PMID: 19156171 Free PMC article.

8

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Ørstavik KH, Tangeraas T, Molven A, Prescott TE. Ørstavik KH, et al. Eur J Med Genet. 2007 Mar-Apr;50(2):155-8. doi: 10.1016/j.ejmg.2006.12.003. Epub 2007 Jan 20. Eur J Med Genet. 2007. PMID: 17324647

9

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

Orstavik KH, Strømme P, Ek J, Torvik A, Skjeldal OH. Orstavik KH, et al. J Med Genet. 1997 Oct;34(10):849-51. doi: 10.1136/jmg.34.10.849. J Med Genet. 1997. PMID: 9350820 Free PMC article.

10

Unilateral cleft lip in a boy with Angelman syndrome.

Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, Kubota T, Ledbetter DH, Orstavik KH. Rösby O, et al. Among authors: orstavik kh. J Craniofac Genet Dev Biol. 1996 Apr-Jun;16(2):122-5. J Craniofac Genet Dev Biol. 1996. PMID: 8773903

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