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Showing 1 to 12 of 107 entries
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

American journal of human genetics

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME.
PMID: 28863274
Am J Hum Genet. 2016 Mar 03;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 03.

No abstract available.

A catalog of hemizygous variation in 127 22q11 deletion patients.

Human genome variation

Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, Vermeesch JR.
PMID: 27274857
Hum Genome Var. 2016 Jan 14;3:15065. doi: 10.1038/hgv.2015.65. eCollection 2016.

The 22q11.2 deletion syndrome is the most common microdeletion disorder, with wide phenotypic variability. To investigate variation within the non-deleted allele we performed targeted resequencing of the 22q11.2 region for 127 patients, identifying multiple deletion sizes, including two deletions...

Comment on: Reconsideration of the scheme of the International Classification of Functioning, Disability and Health: incentives from the Netherlands for a global debate. Heerkens et al, 2017.

Disability and rehabilitation

Van de Velde D, De Vriendt P.
PMID: 28290226
Disabil Rehabil. 2018 Mar;40(5):612-614. doi: 10.1080/09638288.2017.1300329. Epub 2017 Mar 14.

No abstract available.

Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24.

Annals of the New York Academy of Sciences

Irobi J, Timmerman V, De Jonghe P, De Vriendt E, VAN Broeckhoven C, Beuten J.
PMID: 29086955
Ann N Y Acad Sci. 1999 Oct;883(1):463-465. doi: 10.1111/j.1749-6632.1999.tb08611.x.

No abstract available.

Mutation Screening of Charcot-Marie-Tooth Patients in Poland.

Annals of the New York Academy of Sciences

Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, VAN Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I.
PMID: 29086975
Ann N Y Acad Sci. 1999 Oct;883(1):493-496. doi: 10.1111/j.1749-6632.1999.tb08619.x.

No abstract available.

Can dendritic cells improve whole cancer cell vaccines based on immunogenically killed cancer cells?.

Oncoimmunology

Cicchelero L, Denies S, Devriendt B, de Rooster H, Sanders NN.
PMID: 26587315
Oncoimmunology. 2015 Jun 01;4(12):e1048413. doi: 10.1080/2162402X.2015.1048413. eCollection 2015 Dec.

Immunogenic cell death (ICD) offers interesting opportunities in cancer cell (CC) vaccine manufacture, as it increases the immunogenicity of the dead CC. Furthermore, fusion of CCs with dendritic cells (DCs) is considered a superior method for generating whole CC...

Collaboratively charting the gene-to-phenotype network of human congenital heart defects.

Genome medicine

Barriot R, Breckpot J, Thienpont B, Brohée S, Van Vooren S, Coessens B, Tranchevent LC, Van Loo P, Gewillig M, Devriendt K, Moreau Y.
PMID: 20193066
Genome Med. 2010 Mar 01;2(3):16. doi: 10.1186/gm137.

BACKGROUND: How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question.DESCRIPTION: We built on the recent advances in Wiki-based technologies to...

Correction to: Peak stresses shift from femoral tunnel aperture to tibial tunnel aperture in lateral tibial tunnel ACL reconstructions: a 3D graft-bending angle measurement and finite-element analysis.

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA

Van Der Bracht H, Tampere T, Beekman P, Schepens A, Devriendt W, Cromheecke M, Verdonk P, Victor J.
PMID: 29222717
Knee Surg Sports Traumatol Arthrosc. 2018 Feb;26(2):518. doi: 10.1007/s00167-017-4821-2.

Unfortunately, one of the co-author's name was missed in the original online publication of this article. The name should be included as sixth author in the author group.

Gamma knife radiosurgery for intralabyrinthine schwannomas.

Journal of radiosurgery and SBRT

Massager N, Drogba L, Delbrouck C, Benmebarek N, Desmedt F, Devriendt D.
PMID: 29296322
J Radiosurg SBRT. 2011;1(3):237-245.

OBJECT: To analyze indications and technical specificities of treatment of intralabyrinthine schwannoma (ILS) by Gamma Knife radiosurgery.METHODS: Six patients were treated by Gamma Knife irradiation for a schwannoma arising from the cochleo-vestibular structures. Patients presented hearing worsening at different...

Unified mean-field framework for susceptible-infected-susceptible epidemics on networks, based on graph partitioning and the isoperimetric inequality.

Physical review. E

Devriendt K, Van Mieghem P.
PMID: 29347672
Phys Rev E. 2017 Nov;96(5):052314. doi: 10.1103/PhysRevE.96.052314. Epub 2017 Nov 27.

We propose an approximation framework that unifies and generalizes a number of existing mean-field approximation methods for the susceptible-infected-susceptible (SIS) epidemic model on complex networks. We derive the framework, which we call the unified mean-field framework (UMFF), as a...

Pseudoinverse of the Laplacian and best spreader node in a network.

Physical review. E

Van Mieghem P, Devriendt K, Cetinay H.
PMID: 29346956
Phys Rev E. 2017 Sep;96(3):032311. doi: 10.1103/PhysRevE.96.032311. Epub 2017 Sep 15.

Determining a set of "important" nodes in a network constitutes a basic endeavor in network science. Inspired by electrical flows in a resistor network, we propose the best conducting node j in a graph G as the minimizer of...

Preaxial polydactyly of the foot: variable expression of trisomy 13 in a case from central Africa.

Case reports in genetics

Mbuyi-Musanzayi S, Lumaka A, Yogolelo Asani B, Lubala Kasole T, Lukusa Tshilobo P, Kalenga Muenze P, Tshilombo Katombe F, Devriendt K.
PMID: 25254124
Case Rep Genet. 2014;2014:365031. doi: 10.1155/2014/365031. Epub 2014 Sep 01.

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the...

Showing 1 to 12 of 107 entries