Keymolen K - Search Results

1

Defining the phenotypical spectrum associated with variants in TUBB2A.

Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K. Brock S, et al. Among authors: keymolen k. J Med Genet. 2021 Jan;58(1):33-40. doi: 10.1136/jmedgenet-2019-106740. Epub 2020 Jun 22. J Med Genet. 2021. PMID: 32571897 Free PMC article.

2

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

De Bruyn C, Vanderhasselt T, Tanyalçin I, Keymolen K, Van Rompaey KL, De Meirleir L, Jansen AC. De Bruyn C, et al. Among authors: keymolen k. Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6. Eur J Paediatr Neurol. 2014. PMID: 24388699 Review.

3

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.

4

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.

5

Can clinical characteristics be criteria to perform chromosomal microarray analysis in children and adolescents with autism spectrum disorders?

Sys M, van den Bogaert A, Roosens B, Lampo A, Jansen A, Wouters S, Keymolen K. Sys M, et al. Among authors: keymolen k. Minerva Pediatr. 2018 Jun;70(3):225-232. doi: 10.23736/S0026-4946.16.04570-9. Epub 2016 Sep 8. Minerva Pediatr. 2018. PMID: 27607483

6

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.

7

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Brock S, et al. Among authors: keymolen k. Eur J Hum Genet. 2018 Aug;26(8):1132-1142. doi: 10.1038/s41431-018-0146-y. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706637 Free PMC article.

8

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

9

Fetal and neonatal neurogenetics.

Jansen AC, Keymolen K. Jansen AC, et al. Among authors: keymolen k. Handb Clin Neurol. 2019;162:105-132. doi: 10.1016/B978-0-444-64029-1.00005-9. Handb Clin Neurol. 2019. PMID: 31324307 Review.

10

Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly.

Brock S, Michotte A, Doné E, Leus A, Cannie M, De Pierre K, Forsyth R, Stouffs K, Keymolen K, Dimitrov B, Fieuw A, Jansen AC, Van Berkel K. Brock S, et al. Among authors: keymolen k. J Neuropathol Exp Neurol. 2021 Sep 10;80(8):807-810. doi: 10.1093/jnen/nlab026. J Neuropathol Exp Neurol. 2021. PMID: 33846711 No abstract available.

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