Kulseth MA - Search Results

1

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. Wintjes LTM, et al. Among authors: kulseth ma. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.

2

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K. Bjørgo K, et al. Among authors: kulseth ma. Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17. Mol Genet Metab. 2017. PMID: 28673549

3

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: kulseth ma. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.

4

Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE. Cameron J, et al. Among authors: kulseth ma. Clin Chim Acta. 2009 May;403(1-2):131-5. doi: 10.1016/j.cca.2009.02.001. Epub 2009 Feb 7. Clin Chim Acta. 2009. PMID: 19361455

5

Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

Tveten K, Khoo KL, Berge KE, Leren TP, Kulseth MA. Tveten K, et al. Among authors: kulseth ma. Genet Test Mol Biomarkers. 2009 Apr;13(2):243-8. doi: 10.1089/gtmb.2008.0125. Genet Test Mol Biomarkers. 2009. PMID: 19371225

6

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.

Kulseth MA, Berge KE, Bogsrud MP, Leren TP. Kulseth MA, et al. J Hum Genet. 2010 Oct;55(10):676-80. doi: 10.1038/jhg.2010.87. Epub 2010 Aug 12. J Hum Genet. 2010. PMID: 20703241

7

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: kulseth ma. 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

8

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR. Tønne E, et al. Among authors: kulseth ma. Eur J Hum Genet. 2021 Jun;29(6):920-929. doi: 10.1038/s41431-020-00788-4. Epub 2020 Dec 7. Eur J Hum Genet. 2021. PMID: 33288889 Free PMC article.

9

Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly.

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T. Kulseth MA, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):130-5. doi: 10.1016/j.ejmg.2010.10.011. Epub 2010 Oct 31. Eur J Med Genet. 2011. PMID: 21044704

10

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. Among authors: kulseth ma. 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

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