Ormerod E - Search Results

1

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.

Skinningsrud B, Husebye ES, Gilfillan GD, Frengen E, Erichsen A, Gervin K, Ormerod E, Egeland T, Undlien DE. Skinningsrud B, et al. Among authors: ormerod e. J Clin Endocrinol Metab. 2009 Oct;94(10):4086-93. doi: 10.1210/jc.2009-0923. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773398

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: ormerod e. 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

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Misceo D, Bjørgo K, Ormerod E, Ringen Ø, Rocchi M, van der Hagen CB, Frengen E. Misceo D, et al. Among authors: ormerod e. Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582. Am J Med Genet A. 2008. PMID: 19012337 No abstract available.

4

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. Among authors: ormerod e. 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

5

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: ormerod e. J Craniofac Genet Dev Biol. 1996 Apr-Jun;16(2):122-5. J Craniofac Genet Dev Biol. 1996. PMID: 8773903

6

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. Among authors: ormerod e. 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.

7

A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype.

Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH, van der Hagen CB, Ormerod E. Isaksen CV, et al. Among authors: ormerod e. Ultrasound Obstet Gynecol. 2000 Jul;16(1):37-45. doi: 10.1046/j.1469-0705.2000.00157.x. Ultrasound Obstet Gynecol. 2000. PMID: 11084963 Free article.

8

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

Tatton-Brown K, Pilz DT, Orstavik KH, Patton M, Barber JC, Collinson MN, Maloney VK, Huang S, Crolla JA, Marks K, Ormerod E, Thompson P, Nawaz Z, Lese-Martin C, Tomkins S, Waits P, Rahman N, McEntagart M. Tatton-Brown K, et al. Among authors: ormerod e. Am J Med Genet A. 2009 Feb;149A(2):147-54. doi: 10.1002/ajmg.a.32534. Am J Med Genet A. 2009. PMID: 19133692

9

Estimating loss of the wild-type p53 gene by in situ hybridization of fine-needle aspirates from breast carcinomas.

Sauer T, Beraki K, Furu I, Ormerod E, Jebsen PW, Naess O. Sauer T, et al. Among authors: ormerod e. Diagn Cytopathol. 1999 May;20(5):266-70. doi: 10.1002/(sici)1097-0339(199905)20:5<266::aid-dc4>3.0.co;2-6. Diagn Cytopathol. 1999. PMID: 10319226

10

Numerical aberrations of chromosome 17 in interphase cell nuclei of breast carcinoma cells: lack of correlation with abnormal expression of p53, neu and nm23 protein.

Sauer T, Beraki K, Jebsen PW, Ormerod E, Naess O. Sauer T, et al. Among authors: ormerod e. APMIS. 1998 Oct;106(10):921-7. doi: 10.1111/j.1699-0463.1998.tb00240.x. APMIS. 1998. PMID: 9833692

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