E Frengen
Overview
Explore the profile of E Frengen including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
594
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Recent Articles
1.
Belengeanu V, Gamage T, Farcas S, Stoian M, Andreescu N, Belengeanu A, et al.
Gene
. 2014 Feb;
539(1):168-72.
PMID: 24508274
We report a 20-month-old girl ascertained at the age of 11 months for developmental delay. She presented with hypotonia and delayed motor development. The patient had severe language impairment and...
2.
Pedurupillay C, Misceo D, Gamage T, Dissanayake V, Frengen E
Gene
. 2013 Oct;
533(1):403-10.
PMID: 24095780
Chromosomal rearrangements resulting in an inverted duplication and a terminal deletion (inv dup del) can occur due to three known mechanisms, two of them resulting in a normal copy region...
3.
Misceo D, Baroy T, Helle J, Braaten O, Fannemel M, Frengen E
Gene
. 2012 Jul;
507(1):85-91.
PMID: 22842548
Several Wolf-Hirschhorn syndrome patients have been studied, mouse models for a few candidate genes have been constructed and two WHS critical regions have been postulated, but the molecular basis of...
4.
Misceo D, Rodningen O, Baroy T, Sorte H, Mellembakken J, Stromme P, et al.
Am J Med Genet A
. 2011 Jan;
155A(2):403-8.
PMID: 21271662
Chromosome 22q13 monosomy has been described as a contiguous gene syndrome. Localized in the critical region, SHANK3 is likely to play a key role in the expression of the clinical...
5.
Misceo D, Fannemel M, Baroy T, Roberto R, Tvedt B, Jaeger T, et al.
Neurogenetics
. 2009 May;
10(4):371-4.
PMID: 19471976
We report of a spinocerebellar ataxia (SCA)27 in a daughter and her mother whose karyotype is 46, XX t(5;13)(q31.2;q33.1). The translocation breakpoint is identical in both patients, disrupting the gene-encoding...
6.
Osoegawa K, de Jong P, Frengen E, Ioannou P
Curr Protoc Hum Genet
. 2008 Apr;
Chapter 5:Unit 5.15.
PMID: 18428289
This unit describes the construction of BAC and PAC libraries. Two vectors, pCYPAC2 and pPAC4 have been used for preparing PAC libraries, and a new BAC vector pBACe3.6 has been...
7.
Osoegawa K, de Jong P, Frengen E, Ioannou P
Curr Protoc Mol Biol
. 2008 Feb;
Chapter 5:Unit 5.9.
PMID: 18265253
Large-insert genomic libraries are necessary for physical mapping of large chromosomal regions, for isolation of complete genes, and for use as intermediates in DNA sequencing of entire genomes. Construction of...
8.
Orstavik S, Reinton N, Frengen E, Langeland B, Jahnsen T, Skalhegg B
Eur J Biochem
. 2001 Oct;
268(19):5066-73.
PMID: 11589697
Four different isoforms of the catalytic subunit of cAMP-dependent protein kinase, termed Calpha, Cbeta, Cgamma and PrKX have been identified. Here we demonstrate that the human Cbeta gene encodes six...
9.
Valgardsdottir R, Brede G, Eide L, Frengen E, Prydz H
J Biol Chem
. 2001 May;
276(34):32056-63.
PMID: 11350955
A cDNA encoding a novel member of the helicase family, MDDX28, has been cloned from a human testis library. This apparently intronless gene was transcribed in all tissues studied. MDDX28...
10.
Osoegawa K, Mammoser A, Wu C, Frengen E, Zeng C, Catanese J, et al.
Genome Res
. 2001 Mar;
11(3):483-96.
PMID: 11230172
A 30-fold redundant human bacterial artificial chromosome (BAC) library with a large average insert size (178 kb) has been constructed to provide the intermediate substrate for the international genome sequencing...