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Items: 1 to 50 of 228

1.

Effects of Pulmonary Rehabilitation on Gait Characteristics in Patients with COPD.

Liu WY, Meijer K, Delbressine JM, Willems PJ, Wouters EF, Spruit MA.

J Clin Med. 2019 Apr 5;8(4). pii: E459. doi: 10.3390/jcm8040459.

2.

Spatiotemporal gait characteristics in patients with COPD during the Gait Real-time Analysis Interactive Lab-based 6-minute walk test.

Liu WY, Spruit MA, Delbressine JM, Willems PJ, Franssen FME, Wouters EFM, Meijer K.

PLoS One. 2017 Dec 28;12(12):e0190099. doi: 10.1371/journal.pone.0190099. eCollection 2017.

3.

Reproducibility and Validity of the 6-Minute Walk Test Using the Gait Real-Time Analysis Interactive Lab in Patients with COPD and Healthy Elderly.

Liu WY, Meijer K, Delbressine JM, Willems PJ, Franssen FM, Wouters EF, Spruit MA.

PLoS One. 2016 Sep 8;11(9):e0162444. doi: 10.1371/journal.pone.0162444. eCollection 2016.

4.

Associations of sedentary time and patterns of sedentary time accumulation with health-related quality of life in colorectal cancer survivors.

van Roekel EH, Winkler EA, Bours MJ, Lynch BM, Willems PJ, Meijer K, Kant I, Beets GL, Sanduleanu S, Healy GN, Weijenberg MP.

Prev Med Rep. 2016 Jul 1;4:262-9. doi: 10.1016/j.pmedr.2016.06.022. eCollection 2016 Dec.

5.

Modeling how substitution of sedentary behavior with standing or physical activity is associated with health-related quality of life in colorectal cancer survivors.

van Roekel EH, Bours MJ, Breedveld-Peters JJ, Willems PJ, Meijer K, Kant I, van den Brandt PA, Beets GL, Sanduleanu S, Weijenberg MP.

Cancer Causes Control. 2016 Apr;27(4):513-25. doi: 10.1007/s10552-016-0725-6. Epub 2016 Feb 18.

6.

Identifying waking time in 24-h accelerometry data in adults using an automated algorithm.

van der Berg JD, Willems PJ, van der Velde JH, Savelberg HH, Schaper NC, Schram MT, Sep SJ, Dagnelie PC, Bosma H, Stehouwer CD, Koster A.

J Sports Sci. 2016 Oct;34(19):1867-73. doi: 10.1080/02640414.2016.1140908. Epub 2016 Feb 2.

PMID:
26837855
7.

Associations of total amount and patterns of sedentary behaviour with type 2 diabetes and the metabolic syndrome: The Maastricht Study.

van der Berg JD, Stehouwer CD, Bosma H, van der Velde JH, Willems PJ, Savelberg HH, Schram MT, Sep SJ, van der Kallen CJ, Henry RM, Dagnelie PC, Schaper NC, Koster A.

Diabetologia. 2016 Apr;59(4):709-18. doi: 10.1007/s00125-015-3861-8. Epub 2016 Feb 2.

8.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b. No abstract available.

PMID:
26220135
9.

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J.

Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Erratum in: Nat Genet. 2015 Aug;47(8):962.

PMID:
26005867
10.

A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.

Papadimitriou DT, Willems PJ, Bothou C, Karpathios T, Papadimitriou A.

Diabetes Metab. 2015 Sep;41(4):342-3. doi: 10.1016/j.diabet.2015.03.009. Epub 2015 Apr 25. No abstract available.

PMID:
25921421
11.

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies.

Bevilacqua E, Gil MM, Nicolaides KH, Ordoñez E, Cirigliano V, Dierickx H, Willems PJ, Jani JC.

Ultrasound Obstet Gynecol. 2015 Jan;45(1):61-6. doi: 10.1002/uog.14690. Epub 2014 Dec 4.

12.

The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands.

Willems PJ, Dierickx H, Vandenakker E, Bekedam D, Segers N, Deboulle K, Vereecken A.

Facts Views Vis Obgyn. 2014;6(1):7-12.

13.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L.

Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16.

14.

Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.

Al-Shibli A, Yusuf M, Abounajab I, Willems PJ.

Springerplus. 2014 Feb 18;3:96. doi: 10.1186/2193-1801-3-96. eCollection 2014.

15.

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Ben-Salem S, Rehm HL, Willems PJ, Tamimi ZA, Ayadi H, Ali BR, Al-Gazali L.

Mol Biol Rep. 2014 Jan;41(1):193-200. doi: 10.1007/s11033-013-2851-5. Epub 2013 Nov 6.

PMID:
24194196
16.

Lower leg muscle strengthening does not redistribute plantar load in diabetic polyneuropathy: a randomised controlled trial.

Melai T, Schaper NC, Ijzerman TH, de Lange TL, Willems PJ, Lima Passos V, Lieverse AG, Meijer K, Savelberg HH.

J Foot Ankle Res. 2013 Oct 18;6(1):41. doi: 10.1186/1757-1146-6-41.

17.

Strength training affects lower extremity gait kinematics, not kinetics, in people with diabetic polyneuropathy.

Melai T, Schaper NC, IJzerman TH, Willems PJ, de Lange TL, Meijer K, Lieverse AG, Savelberg HH.

J Appl Biomech. 2014 Apr;30(2):221-30. doi: 10.1123/jab.2013-0186. Epub 2013 Sep 13.

PMID:
24042012
18.

Increased forefoot loading is associated with an increased plantar flexion moment.

Melai T, Schaper NC, Ijzerman TH, de Lange TL, Willems PJ, Meijer K, Lieverse AG, Savelberg HH.

Hum Mov Sci. 2013 Aug;32(4):785-93. doi: 10.1016/j.humov.2013.05.001. Epub 2013 Aug 16.

PMID:
23958476
19.

A de novo GLI3 mutation in a patient with acrocallosal syndrome.

Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW.

Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30.

PMID:
23633388
20.

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW.

Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14.

PMID:
22893440
21.

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K.

Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316.

22.

Differences in walking pattern during 6-min walk test between patients with COPD and healthy subjects.

Annegarn J, Spruit MA, Savelberg HH, Willems PJ, van de Bool C, Schols AM, Wouters EF, Meijer K.

PLoS One. 2012;7(5):e37329. doi: 10.1371/journal.pone.0037329. Epub 2012 May 18.

23.

Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

Wessels M, Willems PJ.

Clin Genet. 2012 Jul;82(1):30-2. doi: 10.1111/j.1399-0004.2012.01870.x. Epub 2012 Apr 8. No abstract available.

PMID:
22436127
24.

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW.

J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.

PMID:
22167769
25.

Lower extremity muscle strength is reduced in people with type 2 diabetes, with and without polyneuropathy, and is associated with impaired mobility and reduced quality of life.

IJzerman TH, Schaper NC, Melai T, Meijer K, Willems PJ, Savelberg HH.

Diabetes Res Clin Pract. 2012 Mar;95(3):345-51. doi: 10.1016/j.diabres.2011.10.026. Epub 2011 Nov 21.

26.

Motor nerve decline does not underlie muscle weakness in type 2 diabetic neuropathy.

Ijzerman TH, Schaper NC, Melai T, Blijham P, Meijer K, Willems PJ, Savelberg HH.

Muscle Nerve. 2011 Aug;44(2):241-5. doi: 10.1002/mus.22039.

PMID:
21755507
27.

Calculation of plantar pressure time integral, an alternative approach.

Melai T, IJzerman TH, Schaper NC, de Lange TL, Willems PJ, Meijer K, Lieverse AG, Savelberg HH.

Gait Posture. 2011 Jul;34(3):379-83. doi: 10.1016/j.gaitpost.2011.06.005. Epub 2011 Jul 6.

28.

A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome.

Şimşek E, Şimşek T, Dallar Y, Can Ö, Willems PJ.

J Clin Res Pediatr Endocrinol. 2011;3(1):29-31. doi: 10.4274/jcrpe.v3i1.06. Epub 2011 Feb 23.

29.

Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

Al-Shibli A, Al Attrach I, Willems PJ.

Pediatr Nephrol. 2011 Jul;26(7):1167-70. doi: 10.1007/s00467-011-1835-8. Epub 2011 Mar 12.

PMID:
21399899
30.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM.

Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.

PMID:
21217753
31.

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.

Claeys KG, Pellissier JF, Garcia-Bragado F, Weis J, Urtizberea A, Poza JJ, Cobo AM, Stoltenburg G, Figarella-Branger D, Willems PJ, Depuydt CE, Kleiner W, Pouget J, Piraud M, Brochier G, Romero NB, Fardeau M, Goebel HH, Bönnemann CG, Voit T, Eymard B, Laforêt P.

Neuromuscul Disord. 2010 Nov;20(11):701-8. doi: 10.1016/j.nmd.2010.06.006. Epub 2010 Jul 15.

PMID:
20637616
32.

Genetic factors in non-syndromic congenital heart malformations.

Wessels MW, Willems PJ.

Clin Genet. 2010 Aug;78(2):103-23. doi: 10.1111/j.1399-0004.2010.01435.x. Epub 2010 May 17. Review.

PMID:
20497191
33.

Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?

Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR, Lequin MH, de Jong EM, Husen M, Willems PJ, Casey B.

J Med Genet. 2010 May;47(5):351-5. doi: 10.1136/jmg.2008.060913.

PMID:
20452998
34.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
35.

Prolonged activity of knee extensors and dorsal flexors is associated with adaptations in gait in diabetes and diabetic polyneuropathy.

Savelberg HH, Ilgin D, Angin S, Willems PJ, Schaper NC, Meijer K.

Clin Biomech (Bristol, Avon). 2010 Jun;25(5):468-75. doi: 10.1016/j.clinbiomech.2010.02.005. Epub 2010 Mar 5.

PMID:
20207058
36.

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Shkalim V, Baris HN, Gal G, Gleiss R, Calderon S, Wessels M, Maat-Kievit A, Menten B, De Baere E, Hennekam RC, Schirmacher A, Bale S, Shohat M, Willems PJ.

Am J Med Genet A. 2009 Dec;149A(12):2700-5. doi: 10.1002/ajmg.a.33095.

PMID:
19921646
37.

Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26.

Todt I, Mazereeuw-Hautier J, Binder B, Willems PJ.

Clin Genet. 2009 Oct;76(4):404-8. doi: 10.1111/j.1399-0004.2009.01211.x.

PMID:
19793313
38.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.

39.

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.

Psoni S, Willems PJ, Kanavakis E, Mavrou A, Frissyra H, Traeger-Synodinos J, Sofokleous C, Makrythanassis P, Kitsiou-Tzeli S.

Eur J Paediatr Neurol. 2010 Mar;14(2):188-91. doi: 10.1016/j.ejpn.2009.03.006. Epub 2009 May 9.

PMID:
19428276
40.

Muscles limiting the sit-to-stand movement: an experimental simulation of muscle weakness.

Van der Heijden MM, Meijer K, Willems PJ, Savelberg HH.

Gait Posture. 2009 Jul;30(1):110-4. doi: 10.1016/j.gaitpost.2009.04.002. Epub 2009 May 5.

PMID:
19419871
41.

Redistribution of joint moments is associated with changed plantar pressure in diabetic polyneuropathy.

Savelberg HH, Schaper NC, Willems PJ, de Lange TL, Meijer K.

BMC Musculoskelet Disord. 2009 Feb 3;10:16. doi: 10.1186/1471-2474-10-16.

42.

Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ.

Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594.

PMID:
19161153
43.

Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation.

Maász A, Komlósi K, Hadzsiev K, Szabó Z, Willems PJ, Gerlinger I, Kosztolányi G, Méhes K, Melegh B.

Curr Med Chem. 2008;15(13):1257-62. Review.

PMID:
18537605
44.

Candidate gene analysis in three families with acilia syndrome.

Wessels MW, Avital A, Failly M, Munoz A, Omran H, Blouin JL, Willems PJ.

Am J Med Genet A. 2008 Jul 1;146A(13):1765-7. doi: 10.1002/ajmg.a.32340. No abstract available.

PMID:
18512228
45.

Bottlenecks in molecular testing for rare genetic diseases.

Willems PJ.

Hum Mutat. 2008 Jun;29(6):772-5. doi: 10.1002/humu.20756.

PMID:
18412107
46.

Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.

Wessels MW, Willems PJ.

Clin Genet. 2008 Jul;74(1):16-9. doi: 10.1111/j.1399-0004.2008.00985.x. Epub 2008 Apr 8.

PMID:
18400036
47.

Sex-linked deafness.

Petersen MB, Wang Q, Willems PJ.

Clin Genet. 2008 Jan;73(1):14-23. Epub 2007 Nov 13. Review.

PMID:
18005182
48.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ.

Hum Genet. 2008 Jan;122(6):595-603. Epub 2007 Oct 16.

PMID:
17938964
49.

The load/capacity ratio affects the sit-to-stand movement strategy.

Savelberg HH, Fastenau A, Willems PJ, Meijer K.

Clin Biomech (Bristol, Avon). 2007 Aug;22(7):805-12. Epub 2007 Jun 15.

PMID:
17573167
50.

Mitochondrial deafness.

Kokotas H, Petersen MB, Willems PJ.

Clin Genet. 2007 May;71(5):379-91. Review.

PMID:
17489842

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