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Items: 1 to 50 of 443

1.

Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2018 Oct 29;8(1):15845. doi: 10.1038/s41598-018-33869-y.

2.

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

Boel A, De Saffel H, Steyaert W, Callewaert B, De Paepe A, Coucke PJ, Willaert A.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035352. doi: 10.1242/dmm.035352.

3.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
4.

Ibrutinib induces rapid down-regulation of inflammatory markers and altered transcription of chronic lymphocytic leukaemia-related genes in blood and lymph nodes.

Palma M, Krstic A, Peña Perez L, Berglöf A, Meinke S, Wang Q, Blomberg KEM, Kamali-Moghaddam M, Shen Q, Jaremko G, Lundin J, De Paepe A, Höglund P, Kimby E, Österborg A, Månsson R, Smith CIE.

Br J Haematol. 2018 Oct;183(2):212-224. doi: 10.1111/bjh.15516. Epub 2018 Aug 20.

PMID:
30125946
5.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6.

6.

Classic Ehlers-Danlos Syndrome.

Malfait F, Wenstrup R, De Paepe A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 May 29 [updated 2018 Jul 26].

7.

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J.

Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039.

PMID:
29875124
8.

PATHOGENIC VARIANTS IN THE ABCC6 GENE ARE ASSOCIATED WITH AN INCREASED RISK FOR ISCHEMIC STROKE.

De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM.

Brain Pathol. 2018 May 3. doi: 10.1111/bpa.12620. [Epub ahead of print]

PMID:
29722917
9.

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.

D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F.

Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15.

PMID:
29551664
10.

Active enhancer and chromatin accessibility landscapes chart the regulatory network of primary multiple myeloma.

Jin Y, Chen K, De Paepe A, Hellqvist E, Krstic AD, Metang L, Gustafsson C, Davis RE, Levy YM, Surapaneni R, Wallblom A, Nahi H, Mansson R, Lin YC.

Blood. 2018 May 10;131(19):2138-2150. doi: 10.1182/blood-2017-09-808063. Epub 2018 Mar 8.

11.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
12.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.

Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.

13.

Maternal distress in the context of their child's type 1 diabetes: exploring the role of adaptive maternal emotion regulation on child outcomes.

Van Gampelaere C, Vervoort T, Luyckx K, De Paepe A, Van Aken S, Goubert L.

Psychol Health Med. 2018 Mar;23(3):337-346. doi: 10.1080/13548506.2017.1394475. Epub 2017 Oct 23.

PMID:
29057673
14.

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.

Janssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P.

BMC Med Ethics. 2017 Aug 1;18(1):46. doi: 10.1186/s12910-017-0206-9.

15.

Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial.

Muiño-Mosquera L, De Nobele S, Devos D, Campens L, De Paepe A, De Backer J.

Acta Cardiol. 2017 Dec;72(6):616-624. doi: 10.1080/00015385.2017.1314134. Epub 2017 Jun 28.

PMID:
28657492
16.

Mice deficient of Myc super-enhancer region reveal differential control mechanism between normal and pathological growth.

Dave K, Sur I, Yan J, Zhang J, Kaasinen E, Zhong F, Blaas L, Li X, Kharazi S, Gustafsson C, De Paepe A, Månsson R, Taipale J.

Elife. 2017 Jun 6;6. pii: e23382. doi: 10.7554/eLife.23382.

17.

Remapping nociceptive stimuli into a peripersonal reference frame is spatially locked to the stimulated limb.

De Paepe AL, Crombez G, Legrain V.

Neuropsychologia. 2017 Jul 1;101:121-131. doi: 10.1016/j.neuropsychologia.2017.05.015. Epub 2017 May 11.

PMID:
28502633
18.

Comprehensive mapping of the effects of azacitidine on DNA methylation, repressive/permissive histone marks and gene expression in primary cells from patients with MDS and MDS-related disease.

Tobiasson M, Abdulkadir H, Lennartsson A, Katayama S, Marabita F, De Paepe A, Karimi M, Krjutskov K, Einarsdottir E, Grövdal M, Jansson M, Ben Azenkoud A, Corddedu L, Lehmann S, Ekwall K, Kere J, Hellström-Lindberg E, Ungerstedt J.

Oncotarget. 2017 Apr 25;8(17):28812-28825. doi: 10.18632/oncotarget.15807.

19.

Application of Imaging Techniques to Cases of Drug-Induced Crystal Nephropathy in Preclinical Studies.

Lenz B, Brink A, Siam M, De Paepe A, Bassett S, Eichinger-Chapelon A, Maliver P, Neff R, Niederhauser U, Steinhuber B, Zurbach R, Singer T, Funk C, Schuler F, Albassam M, Schadt S.

Toxicol Sci. 2018 Jun 1;163(2):409-419. doi: 10.1093/toxsci/kfx044.

PMID:
28329870
20.

The 2017 international classification of the Ehlers-Danlos syndromes.

Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.

Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.

PMID:
28306229
21.

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ.

Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6.

PMID:
28261977
22.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

23.

miSTAR: miRNA target prediction through modeling quantitative and qualitative miRNA binding site information in a stacked model structure.

Van Peer G, De Paepe A, Stock M, Anckaert J, Volders PJ, Vandesompele J, De Baets B, Waegeman W.

Nucleic Acids Res. 2017 Apr 20;45(7):e51. doi: 10.1093/nar/gkw1260.

24.

Attitudes of European Geneticists Regarding Expanded Carrier Screening.

Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P.

J Obstet Gynecol Neonatal Nurs. 2017 Jan - Feb;46(1):63-71. doi: 10.1016/j.jogn.2016.08.012. Epub 2016 Nov 19.

PMID:
27875676
25.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ.

J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24.

26.

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.

Eur J Med Genet. 2016 Oct;59(10):502-6. doi: 10.1016/j.ejmg.2016.09.008. Epub 2016 Sep 12.

PMID:
27633570
27.

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A.

Sci Rep. 2016 Jul 27;6:30330. doi: 10.1038/srep30330. Erratum in: Sci Rep. 2018 Oct 29;8(1):15845.

28.

RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalization.

Vanhauwaert S, Lefever S, Coucke P, Speleman F, De Paepe A, Vandesompele J, Willaert A.

Methods Cell Biol. 2016;135:329-42. doi: 10.1016/bs.mcb.2016.02.002. Epub 2016 Mar 4.

PMID:
27443934
29.

Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type.

Ott HW, Perkhofer S, Coucke PJ, de Paepe A, Spannagl M.

Haemophilia. 2016 Jul;22(4):e309-11. doi: 10.1111/hae.12931. Epub 2016 Jun 13. No abstract available.

PMID:
27292226
30.

What's Coming Near? The Influence of Dynamical Visual Stimuli on Nociceptive Processing.

De Paepe AL, Crombez G, Legrain V.

PLoS One. 2016 May 25;11(5):e0155864. doi: 10.1371/journal.pone.0155864. eCollection 2016.

31.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

De Wandele I, Rombaut L, De Backer T, Peersman W, Da Silva H, De Mits S, De Paepe A, Calders P, Malfait F.

Rheumatology (Oxford). 2016 Aug;55(8):1412-20. doi: 10.1093/rheumatology/kew032. Epub 2016 Apr 18.

PMID:
27094596
32.

Haemophilus influenzae biofilm formation in chronic otitis media with effusion.

Van Hoecke H, De Paepe AS, Lambert E, Van Belleghem JD, Cools P, Van Simaey L, Deschaght P, Vaneechoutte M, Dhooge I.

Eur Arch Otorhinolaryngol. 2016 Nov;273(11):3553-3560. Epub 2016 Mar 5.

PMID:
26946303
33.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

34.

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F.

Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14.

PMID:
26765342
35.

Using GlycoDelete to produce proteins lacking plant-specific N-glycan modification in seeds.

Piron R, Santens F, De Paepe A, Depicker A, Callewaert N.

Nat Biotechnol. 2015 Nov;33(11):1135-7. doi: 10.1038/nbt.3359. No abstract available.

PMID:
26544140
36.

Medical Cost Associated with Treatment and Follow-Up of Pantients with Head and Neck Cancer.

De Paepe A, Vandeneede N, Strens D, Specenier P.

Value Health. 2015 Nov;18(7):A449. doi: 10.1016/j.jval.2015.09.1127. Epub 2015 Oct 20. No abstract available.

37.

The Economics of the Treatment and Follow-Up of Patients with Glioblastoma.

De Paepe A, Vandeneede N, Strens D, Specenier P.

Value Health. 2015 Nov;18(7):A448. doi: 10.1016/j.jval.2015.09.1122. Epub 2015 Oct 20. No abstract available.

38.

Cost and Cost-Effectiveness Data on Pancreatic Cancer: a Comprehensive Review of the Literature.

Vandeneede N, De Paepe A, Specenier P, Strens D.

Value Health. 2015 Nov;18(7):A448-9. doi: 10.1016/j.jval.2015.09.1125. Epub 2015 Oct 20. No abstract available.

39.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J.

Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28. No abstract available.

40.

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F.

Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4.

41.

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ.

Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.

42.

From a Somatotopic to a Spatiotopic Frame of Reference for the Localization of Nociceptive Stimuli.

De Paepe AL, Crombez G, Legrain V.

PLoS One. 2015 Aug 28;10(8):e0137120. doi: 10.1371/journal.pone.0137120. eCollection 2015.

43.

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

De Backer J, Renard M, Campens L, Mosquera LM, De Paepe A, Coucke P, Callewaert B, Kodolitsch Yv.

Curr Pharm Des. 2015;21(28):4061-75. Review.

PMID:
26306841
44.

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.

Janssens S, Chokoshvilli D, Binst C, Mahieu I, Henneman L, De Paepe A, Borry P.

Eur J Hum Genet. 2016 Apr;24(4):506-12. doi: 10.1038/ejhg.2015.160. Epub 2015 Jul 29.

45.

EFEMP2-Related Cutis Laxa.

Loeys B, De Paepe A, Urban Z.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 12 [updated 2015 Jul 23].

46.

Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.

Campens L, Renard M, Trachet B, Segers P, Muino Mosquera L, De Sutter J, Sakai L, De Paepe A, De Backer J.

Pediatr Res. 2015 Sep;78(3):256-63. doi: 10.1038/pr.2015.110. Epub 2015 Jun 4.

PMID:
26042521
47.

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.

Pitcher A, Emberson J, Lacro RV, Sleeper LA, Stylianou M, Mahony L, Pearson GD, Groenink M, Mulder BJ, Zwinderman AH, De Backer J, De Paepe AM, Arbustini E, Erdem G, Jin XY, Flather MD, Mullen MJ, Child AH, Forteza A, Evangelista A, Chiu HH, Wu MH, Sandor G, Bhatt AB, Creager MA, Devereux RB, Loeys B, Forfar JC, Neubauer S, Watkins H, Boileau C, Jondeau G, Dietz HC, Baigent C.

Am Heart J. 2015 May;169(5):605-12. doi: 10.1016/j.ahj.2015.01.011. Epub 2015 Feb 12.

48.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628.

49.

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

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