Prescott T - 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. Among authors: prescott t. 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

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. Among authors: prescott te. 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

3

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: prescott t. 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.

4

Phenotypic expansion of ARSK-related mucopolysaccharidosis.

Rustad CF, Prescott TE, Merckoll E, Kristensen E, Salvador CL, Nordgarden H, Tveten K. Rustad CF, et al. Am J Med Genet A. 2022 Nov;188(11):3369-3373. doi: 10.1002/ajmg.a.62934. Epub 2022 Aug 12. Am J Med Genet A. 2022. PMID: 35959767 Free PMC article. No abstract available.

5

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. Among authors: prescott t. 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

6

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

Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G. Rødningen OK, et al. 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.

7

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.

Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J. Horn D, et al. Among authors: prescott t. Eur J Med Genet. 2015 Aug;58(8):387-91. doi: 10.1016/j.ejmg.2015.06.003. Epub 2015 Jun 23. Eur J Med Genet. 2015. PMID: 26116559

8

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

Matlary A, Prescott T, Tvedt B, Lindberg K, Server A, Aicardi J, Strømme P. Matlary A, et al. Among authors: prescott t. Clin Dysmorphol. 2004 Oct;13(4):257-260. Clin Dysmorphol. 2004. PMID: 15365465

9

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C. Marbach F, et al. Among authors: prescott t. Am J Hum Genet. 2019 Apr 4;104(4):749-757. doi: 10.1016/j.ajhg.2019.02.021. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905398 Free PMC article.

10

Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.

Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR. Rustad CF, et al. Among authors: prescott t. Am J Med Genet A. 2017 May;173(5):1447-1449. doi: 10.1002/ajmg.a.38177. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371307 No abstract available.

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