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Items: 1 to 20 of 30

1.

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.

Scheres LJJ, van Dijk FS, Harsevoort AJ, van Dijk ATH, Dommisse AM, Janus GJM, Franken AAM.

Bone Rep. 2018 Apr 25;8:168-172. doi: 10.1016/j.bonr.2018.04.009. eCollection 2018 Jun.

2.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

van Dijk FS, Mancini GMS, Maugeri A, Cobben JM.

Eur J Med Genet. 2017 Oct;60(10):536-540. doi: 10.1016/j.ejmg.2017.07.011. Epub 2017 Jul 27.

PMID:
28757364
3.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

4.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA.

Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review.

5.

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
6.

Genetics of Osteoporosis in Children.

van Dijk FS.

Endocr Dev. 2015;28:196-209. doi: 10.1159/000381046. Epub 2015 Jun 12. Review.

PMID:
26138843
7.

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
8.

Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.

van Dijk FS, Brittain H, Boerma R, Robert ML, Cobben JM.

JAMA Dermatol. 2015 Jun;151(6):675-7. doi: 10.1001/jamadermatol.2014.4900. No abstract available.

PMID:
25564957
9.

[A girl with Angelman syndrome].

Cobben JM, van Hal A, van den Puttelaar-van Hal N, van Dijk FS.

Ned Tijdschr Geneeskd. 2014;158:A8092. Dutch.

PMID:
25406821
10.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

Cobben JM, Weiss MM, van Dijk FS, De Reuver R, de Kruiff C, Pondaag W, Hennekam RC, Yntema HG.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):636-8. doi: 10.1016/j.ejmg.2014.09.002. Epub 2014 Sep 30.

PMID:
25281490
11.

Pectus excavatum and carinatum.

Cobben JM, Oostra RJ, van Dijk FS.

Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Review.

PMID:
24821303
12.

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

Van Dijk FS, Sillence DO.

Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Review. Erratum in: Am J Med Genet A. 2015 May;167A(5):1178.

13.

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.

14.

Clinical utility gene card for: osteogenesis imperfecta.

van Dijk FS, Dalgleish R, Malfait F, Maugeri A, Rusinska A, Semler O, Symoens S, Pals G.

Eur J Hum Genet. 2013 Jun;21(6). doi: 10.1038/ejhg.2012.210. Epub 2012 Sep 26. No abstract available.

15.

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G.

Ned Tijdschr Geneeskd. 2012;156(21):A4585. Review. Dutch.

PMID:
22617071
16.

Osteogenesis Imperfecta: A Review with Clinical Examples.

van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G.

Mol Syndromol. 2011 Dec;2(1):1-20. Epub 2011 Oct 12.

17.

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

Setijowati ED, van Dijk FS, Cobben JM, van Rijn RR, Sistermans EA, Faradz SM, Kawiyana S, Pals G.

Eur J Med Genet. 2012 Jan;55(1):17-21. doi: 10.1016/j.ejmg.2011.10.002. Epub 2011 Oct 24.

PMID:
22085994
18.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G.

Eur J Hum Genet. 2012 Jan;20(1):11-9. doi: 10.1038/ejhg.2011.141. Epub 2011 Aug 10.

19.

Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features.

Van Dijk FS, van Thuijl HF, Wermeskerken A, van Rijn RR, Cobben JM.

Eur J Med Genet. 2011 May-Jun;54(3):284-6. doi: 10.1016/j.ejmg.2010.12.002. Epub 2010 Dec 15.

PMID:
21167328
20.

Complete COL1A1 allele deletions in osteogenesis imperfecta.

van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G.

Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617.

PMID:
21113976

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