Prescott TE - Search Results

1

A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome.

Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL. Holm I, et al. Among authors: prescott te. Gene. 2013 Apr 15;518(2):457-60. doi: 10.1016/j.gene.2013.01.029. Epub 2013 Jan 29. Gene. 2013. PMID: 23370340

2

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL. Prescott T, et al. Eur J Med Genet. 2013 Mar;56(3):131-7. doi: 10.1016/j.ejmg.2012.12.008. Epub 2013 Jan 5. Eur J Med Genet. 2013. PMID: 23298620

3

[Determination of chromosome aberrations with the help of DNA arrays].

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G. Rødningen OK, et al. Among authors: prescott te. Tidsskr Nor Laegeforen. 2010 May 6;130(9):944-7. doi: 10.4045/tidsskr.10.0101. Tidsskr Nor Laegeforen. 2010. PMID: 20453958 Free article. Norwegian. No abstract available.

4

Two male sibs with severe micrognathia and a missense variant in MED12.

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A. Prescott TE, et al. Eur J Med Genet. 2016 Aug;59(8):367-72. doi: 10.1016/j.ejmg.2016.06.001. Epub 2016 Jun 7. Eur J Med Genet. 2016. PMID: 27286923

5

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype.

Rødningen OK, Prescott T, Eriksson AS, Røsby O. Rødningen OK, et al. Eur J Med Genet. 2008 Nov-Dec;51(6):646-50. doi: 10.1016/j.ejmg.2008.07.007. Epub 2008 Aug 5. Eur J Med Genet. 2008. PMID: 18725332

6

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF. Low KJ, et al. Eur J Hum Genet. 2017 May;25(5):552-559. doi: 10.1038/ejhg.2017.27. Epub 2017 Mar 22. Eur J Hum Genet. 2017. PMID: 28327570 Free PMC article.

7

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

Prescott T, Devriendt K, Hamel B, Pasch MC, Peeters H, Vander Poorten V, Tallerås O. Prescott T, et al. Eur J Med Genet. 2006 Mar-Apr;49(2):135-9. doi: 10.1016/j.ejmg.2005.06.005. Epub 2005 Aug 11. Eur J Med Genet. 2006. PMID: 16530710 Review.

8

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

9

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes.

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T. Sorte H, et al. Eur J Med Genet. 2012 Mar;55(3):196-202. doi: 10.1016/j.ejmg.2012.01.003. Epub 2012 Jan 16. Eur J Med Genet. 2012. PMID: 22306853

10

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Tønne E, et al. Eur J Hum Genet. 2015 Dec;23(12):1652-6. doi: 10.1038/ejhg.2015.30. Epub 2015 Mar 4. Eur J Hum Genet. 2015. PMID: 25735484 Free PMC article.

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