Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

145 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. Among authors: de coo if. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R, Szklarczyk R, Theunissen TE, Hellebrekers DMEI, Sallevelt SCEH, Boesten IB, de Koning B, van den Bosch BJ, Salomons GS, Simas-Mendes M, Verdijk R, Schoonderwoerd K, de Coo IFM, Vanoevelen JM, Smeets HJM. Kamps R, et al. Eur J Hum Genet. 2018 Apr;26(4):537-551. doi: 10.1038/s41431-017-0058-2. Epub 2018 Feb 13. Eur J Hum Genet. 2018. PMID: 29440775 Free PMC article.
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM. Theunissen TEJ, et al. Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018. Front Genet. 2018. PMID: 30369941 Free PMC article.
Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Guo L, Engelen BPH, Hemel IMGM, de Coo IFM, Vreeburg M, Sallevelt SCEH, Hellebrekers DMEI, Jacobs EH, Sadeghi-Niaraki F, van Tienen FHJ, Smeets HJM, Gerards M. Guo L, et al. Among authors: de coo ifm. Eur J Hum Genet. 2021 Dec;29(12):1789-1795. doi: 10.1038/s41431-021-00947-1. Epub 2021 Aug 23. Eur J Hum Genet. 2021. PMID: 34426662 Free PMC article.
The transmission of OXPHOS disease and methods to prevent this.
Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: de coo if, de wert g. Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. doi: 10.1093/humupd/dmi042. Epub 2005 Sep 30. Hum Reprod Update. 2006. PMID: 16199488 Review.
145 results