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Items: 1 to 20 of 187

1.

Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome.

Franken R, Teixido-Tura G, Brion M, Forteza A, Rodriguez-Palomares J, Gutierrez L, Garcia Dorado D, Pals G, Mulder BJ, Evangelista A.

Heart. 2017 May 3. pii: heartjnl-2016-310631. doi: 10.1136/heartjnl-2016-310631. [Epub ahead of print]

PMID:
28468757
2.

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.

Yeung KK, Bogunovic N, Keekstra N, Beunders AA, Pals J, van der Kuij K, Overwater E, Wisselink W, Blankensteijn JD, van Hinsbergh VW, Musters RJ, Pals G, Micha D, Zandieh-Doulabi B.

Hum Mutat. 2017 Apr;38(4):439-450. doi: 10.1002/humu.23174. Epub 2017 Jan 27.

PMID:
28074631
3.

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JM, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D.

Am J Hum Genet. 2017 Jan 5;100(1):160-168. doi: 10.1016/j.ajhg.2016.11.019. Epub 2016 Dec 29.

PMID:
28041644
4.

The effect of losartan therapy on ventricular function in Marfan patients with haploinsufficient or dominant negative FBN1 mutations.

den Hartog AW, Franken R, van den Berg MP, Zwinderman AH, Timmermans J, Scholte AJ, de Waard V, Spijkerboer AM, Pals G, Mulder BJ, Groenink M.

Neth Heart J. 2016 Nov;24(11):675-681.

PMID:
27704402
5.

Genotype impacts survival in Marfan syndrome.

Franken R, Groenink M, de Waard V, Feenstra HM, Scholte AJ, van den Berg MP, Pals G, Zwinderman AH, Timmermans J, Mulder BJ.

Eur Heart J. 2016 Nov 14;37(43):3285-3290. Epub 2016 Jan 18.

PMID:
26787436
6.

Inhibition of TGFβ signaling decreases osteogenic differentiation of fibrodysplasia ossificans progressiva fibroblasts in a novel in vitro model of the disease.

Micha D, Voermans E, Eekhoff ME, van Essen HW, Zandieh-Doulabi B, Netelenbos C, Rustemeyer T, Sistermans EA, Pals G, Bravenboer N.

Bone. 2016 Mar;84:169-80. doi: 10.1016/j.bone.2016.01.004. Epub 2016 Jan 6.

PMID:
26769004
7.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS.

Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10.

PMID:
26247899
8.

[Loeys-Dietz syndrome: aortic dissections and aneurysms].

Cancrinus E, Hoksbergen AW, Pals GJ, Wisselink W, Yeung KK.

Ned Tijdschr Geneeskd. 2015;159:A8342. Dutch.

PMID:
26131745
9.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.

Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.

PMID:
25845371
10.

The risk for type B aortic dissection in Marfan syndrome.

den Hartog AW, Franken R, Zwinderman AH, Timmermans J, Scholte AJ, van den Berg MP, de Waard V, Pals G, Mulder BJ, Groenink M.

J Am Coll Cardiol. 2015 Jan 27;65(3):246-54. doi: 10.1016/j.jacc.2014.10.050.

PMID:
25614422
11.

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.

Franken R, den Hartog AW, Radonic T, Micha D, Maugeri A, van Dijk FS, Meijers-Heijboer HE, Timmermans J, Scholte AJ, van den Berg MP, Groenink M, Mulder BJ, Zwinderman AH, de Waard V, Pals G.

Circ Cardiovasc Genet. 2015 Apr;8(2):383-8. doi: 10.1161/CIRCGENETICS.114.000950. Epub 2015 Jan 22.

PMID:
25613431
12.

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

Bravenboer N, Micha D, Triffit JT, Bullock AN, Ravazollo R, Bocciardi R, di Rocco M, Netelenbos JC, Ten Dijke P, Sánchez-Duffhues G, Kaplan FS, Shore EM, Pignolo RJ, Seemann P, Ventura F, Beaujat G, Eekhoff EM, Pals G.

Eur J Hum Genet. 2015 Oct;23(10). doi: 10.1038/ejhg.2014.274. Epub 2015 Jan 21. No abstract available.

PMID:
25604857
13.

The revised role of TGF-β in aortic aneurysms in Marfan syndrome.

Franken R, Radonic T, den Hartog AW, Groenink M, Pals G, van Eijk M, Lutter R, Mulder BJ, Zwinderman AH, de Waard V; COMPARE study group.

Neth Heart J. 2015 Feb;23(2):116-21. doi: 10.1007/s12471-014-0622-0.

PMID:
25342281
14.

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Nota B, Ndika JD, van de Kamp JM, Kanhai WA, van Dooren SJ, van de Wiel MA, Pals G, Salomons GS.

Hum Mutat. 2014 Sep;35(9):1128-35. doi: 10.1002/humu.22609. Epub 2014 Jul 15.

PMID:
24962355
15.

Primary ciliary dyskinesia: From diagnosis to molecular mechanisms.

Paff T, Daniels JM, Pals G, Haarman EG.

J Pediatr Genet. 2014 Jun;3(2):115-27. doi: 10.3233/PGE-14088.

PMID:
27625868
16.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM; UK10K, Mitchison HM.

J Med Genet. 2014 Jan;51(1):61-7. doi: 10.1136/jmedgenet-2013-101938. Epub 2013 Nov 7.

PMID:
24203976
17.

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.

Aalberts JJ, van Tintelen JP, Meijboom LJ, Polko A, Jongbloed JD, van der Wal H, Pals G, Osinga J, Timmermans J, de Backer J, Bakker MK, van Veldhuisen DJ, Hofstra RM, Mulder BJ, van den Berg MP.

Gene. 2014 Jan 15;534(1):40-3. doi: 10.1016/j.gene.2013.10.033. Epub 2013 Oct 24.

PMID:
24161884
18.

PLS3 mutations in X-linked osteoporosis with fractures.

van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G.

N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2.

PMID:
24088043
19.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM.

Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25.

PMID:
23891471
20.

Exhaled molecular profiles in the assessment of cystic fibrosis and primary ciliary dyskinesia.

Paff T, van der Schee MP, Daniels JM, Pals G, Postmus PE, Sterk PJ, Haarman EG.

J Cyst Fibros. 2013 Sep;12(5):454-60. doi: 10.1016/j.jcf.2012.12.010. Epub 2013 Jan 27.

PMID:
23361110

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