Keymolen K - Search Results

1

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M. Kuschal C, et al. Among authors: keymolen k. Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17. Am J Hum Genet. 2016. PMID: 26996949 Free PMC article.

2

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

de Filette J, Hasaerts D, Seneca S, Gheldof A, Stouffs K, Keymolen K, Velkeniers B. de Filette J, et al. Among authors: keymolen k. Neurol Genet. 2016 Jan 7;2(1):e42. doi: 10.1212/NXG.0000000000000042. eCollection 2016 Feb. Neurol Genet. 2016. PMID: 27066579 Free PMC article.

3

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, Gagnon C, Musova Z, Chitayat D, Shannon P, Mathieu J, Sermon K, Pearson CE. Barbé L, et al. Among authors: keymolen k. Am J Hum Genet. 2017 Mar 2;100(3):488-505. doi: 10.1016/j.ajhg.2017.01.033. Am J Hum Genet. 2017. PMID: 28257691 Free PMC article.

4

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Stouffs K, Moortgat S, Vanderhasselt T, Vandervore L, Dica A, Mathot M, Keymolen K, Seneca S, Gheldof A, De Meirleir L, Jansen AC. Stouffs K, et al. Among authors: keymolen k. Eur J Med Genet. 2018 Dec;61(12):733-737. doi: 10.1016/j.ejmg.2018.06.001. Epub 2018 Jun 5. Eur J Med Genet. 2018. PMID: 29883675

5

ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.

Leemans G, De Raeve L, Keymolen K. Leemans G, et al. Among authors: keymolen k. J Eur Acad Dermatol Venereol. 2020 Apr;34(4):876-879. doi: 10.1111/jdv.16134. Epub 2020 Jan 6. J Eur Acad Dermatol Venereol. 2020. PMID: 31803976

6

Early onset Huntington disease: a neuronal degeneration syndrome.

Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S, Desprechins B, Liebaers I, De Meirleir L. Seneca S, et al. Among authors: keymolen k. Eur J Pediatr. 2004 Dec;163(12):717-21. doi: 10.1007/s00431-004-1537-3. Eur J Pediatr. 2004. PMID: 15338298

7

Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.

Hilbrands R, Keymolen K, Michotte A, Marichal M, Cools F, Goossens A, Veld PI, De Schepper J, Hattersley A, Heimberg H. Hilbrands R, et al. Among authors: keymolen k. BMC Med Genet. 2017 May 19;18(1):57. doi: 10.1186/s12881-017-0419-2. BMC Med Genet. 2017. PMID: 28525974 Free PMC article.

8

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G. Sock E, et al. Among authors: keymolen k. Hum Mol Genet. 2003 Jun 15;12(12):1439-47. doi: 10.1093/hmg/ddg158. Hum Mol Genet. 2003. PMID: 12783851

9

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles.

Keymolen K, Staessen C, Verpoest W, Liebaers I, Bonduelle M. Keymolen K, et al. Eur J Hum Genet. 2012 Apr;20(4):376-80. doi: 10.1038/ejhg.2011.208. Epub 2011 Nov 9. Eur J Hum Genet. 2012. PMID: 22071893 Free PMC article.

10

SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.

Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S. Bissay V, et al. Among authors: keymolen k. Eur J Hum Genet. 2016 Mar;24(3):400-7. doi: 10.1038/ejhg.2015.125. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036855 Free PMC article.

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