Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 60

1.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L.

Eur J Hum Genet. 2016 Jan;25(1):43-51. doi: 10.1038/ejhg.2016.133. Epub 2016 Nov 2.

PMID:
27804958
2.

Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24.

Somers IV, Wojciechowski M, Beckers S, Rooms L, Kooy F, Meuwissen ME.

Clin Dysmorphol. 2016 Oct;25(4):167-73. doi: 10.1097/MCD.0000000000000141. No abstract available.

PMID:
27500316
3.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

PMID:
27240531
4.

ADNP-Related Intellectual Disability and Autism Spectrum Disorder.

Van Dijck A, Helsmoortel C, Vandeweyer G, Kooy F.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2016 Apr 7.

5.

Erratum to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Sermone SB.

J Mol Neurosci. 2016 Apr;58(4):535. doi: 10.1007/s12031-016-0737-4. No abstract available.

PMID:
27023101
6.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study.

Am J Med Genet A. 2016 Mar;170(3):670-5. doi: 10.1002/ajmg.a.37476. Epub 2016 Feb 3.

PMID:
26842493
7.

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.

Schoonjans AS, Meuwissen M, Reyniers E, Kooy F, Ceulemans B.

Eur J Paediatr Neurol. 2016 May;20(3):474-9. doi: 10.1016/j.ejpn.2016.01.002. Epub 2016 Jan 13. Review.

PMID:
26818157
8.

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium, Hurles M, Raymond FL.

Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.

9.

The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.

Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Sermone SB.

J Mol Neurosci. 2015 Aug;56(4):751-7. doi: 10.1007/s12031-015-0586-6. No abstract available. Erratum in: J Mol Neurosci. 2016 Apr;58(4):535.

PMID:
26168855
10.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

11.

Choosing chemical markers for quality assurance of complex herbal medicines: Development and application of the herb MaRS criteria.

Bensoussan A, Lee S, Murray C, Bourchier S, van der Kooy F, Pearson JL, Liu J, Chang D, Khoo CS.

Clin Pharmacol Ther. 2015 Jun;97(6):628-40. doi: 10.1002/cpt.100. Epub 2015 May 9. Review.

PMID:
25704128
12.

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.

Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK.

J Neurodev Disord. 2014;6(1):25. doi: 10.1186/1866-1955-6-25. Epub 2014 Jul 30. Review.

13.

Effect of acute stresses on zebra fish (Danio rerio) metabolome measured by NMR-based metabolomics.

Mushtaq MY, Marçal RM, Champagne DL, van der Kooy F, Verpoorte R, Choi YH.

Planta Med. 2014 Sep;80(14):1227-33. doi: 10.1055/s-0034-1382878. Epub 2014 Aug 6.

PMID:
25098933
14.

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.

Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K.

Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Review.

PMID:
24534801
15.

Phytochemistry of the carnivorous sundew genus Drosera (Droseraceae) - future perspectives and ethnopharmacological relevance.

Egan PA, van der Kooy F.

Chem Biodivers. 2013 Oct;10(10):1774-90. doi: 10.1002/cbdv.201200359. Review.

PMID:
24130022
16.

The complexity of medicinal plants: the traditional Artemisia annua formulation, current status and future perspectives.

van der Kooy F, Sullivan SE.

J Ethnopharmacol. 2013 Oct 28;150(1):1-13. doi: 10.1016/j.jep.2013.08.021. Epub 2013 Aug 20. Review.

PMID:
23973523
17.

Developmental effects of cannabinoids on zebrafish larvae.

Akhtar MT, Ali S, Rashidi H, van der Kooy F, Verpoorte R, Richardson MK.

Zebrafish. 2013 Sep;10(3):283-93. doi: 10.1089/zeb.2012.0785. Epub 2013 Jun 22.

PMID:
23789728
18.

The use of bio-guided fractionation to explore the use of leftover biomass in Dutch flower bulb production as allelochemicals against weeds.

Wahyuni DS, van der Kooy F, Klinkhamer PG, Verpoorte R, Leiss K.

Molecules. 2013 Apr 17;18(4):4510-25. doi: 10.3390/molecules18044510.

19.

Is artemisinin the only antiplasmodial compound in the Artemisia annua tea infusion? An in vitro study.

Mouton J, Jansen O, Frédérich M, van der Kooy F.

Planta Med. 2013 Apr;79(6):468-70. doi: 10.1055/s-0032-1328324. Epub 2013 Mar 19.

PMID:
23512495
20.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R.

Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.

PMID:
23462291

Supplemental Content

Loading ...
Support Center