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Items: 7

1.

DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.

Raimondi D, Tanyalcin I, Ferté J, Gazzo A, Orlando G, Lenaerts T, Rooman M, Vranken W.

Nucleic Acids Res. 2017 Jul 3;45(W1):W201-W206. doi: 10.1093/nar/gkx390.

2.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC.

J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3.

PMID:
28258187
3.

Convert your favorite protein modeling program into a mutation predictor: "MODICT".

Tanyalcin I, Stouffs K, Daneels D, Al Assaf C, Lissens W, Jansen A, Gheldof A.

BMC Bioinformatics. 2016 Oct 19;17(1):425.

4.

I-PV: a CIRCOS module for interactive protein sequence visualization.

Tanyalcin I, Al Assaf C, Gheldof A, Stouffs K, Lissens W, Jansen AC.

Bioinformatics. 2016 Feb 1;32(3):447-9. doi: 10.1093/bioinformatics/btv579. Epub 2015 Oct 10.

PMID:
26454277
5.

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.

Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6. Review.

PMID:
24388699
6.

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.

Tanyalçin I, Verhelst H, Halley DJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC.

Eur J Paediatr Neurol. 2013 Nov;17(6):666-70. doi: 10.1016/j.ejpn.2013.05.002. Epub 2013 Jun 4. Review.

PMID:
23755938
7.

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC.

Clin Genet. 2014 Feb;85(2):178-83. doi: 10.1111/cge.12141. Epub 2013 Apr 24.

PMID:
23495813

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