Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

S.A. de Munnik; L.S. Bicknell; S. Aftimos; J.Y. Al-Aama; Y. van Bever; M.B. Bober; J. Clayton-Smith; A.Y. Edrees; M. Feingold; A. Fryer; J.M. van Hagen; R.C. Hennekam; M.C.E. Jansweijer; D. Johnson; S.G. Kant; J.M. Opitz; A.R. Ramadevi; W. Reardon; A. Ross; P. Sarda; C. Schrander-Stumpel; J. Schoots; I.K. Temple; P.A. Terhal; A. Toutain; C.A. Wise; M. Wright; D.L. Skidmore; M.E. Samuels; L.H. Hoefsloot; N.V.A.M. Knoers; H.G. Brunner; A.P. Jackson; E.M.H.F. Bongers

doi:10.1038/ejhg.2011.269

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

S.A. de Munnik, L.S. Bicknell, S. Aftimos, J.Y. Al-Aama, Y. van Bever, M.B. Bober, J. Clayton-Smith, A.Y. Edrees, M. Feingold, A. Fryer, J.M. van Hagen, R.C. Hennekam, M.C.E. Jansweijer, D. Johnson, S.G. Kant, J.M. Opitz, A.R. Ramadevi, W. Reardon, A. Ross, P. SardaC. Schrander-Stumpel, J. Schoots, I.K. Temple, P.A. Terhal, A. Toutain, C.A. Wise, M. Wright, D.L. Skidmore, M.E. Samuels, L.H. Hoefsloot, N.V.A.M. Knoers, H.G. Brunner, A.P. Jackson, E.M.H.F. Bongers

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	598-606
Journal	European Journal of Human Genetics
Volume	20
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2011.269
Publication status	Published - 2012

Access to Document

10.1038/ejhg.2011.269

Cite this

de Munnik, S. A., Bicknell, L. S., Aftimos, S., Al-Aama, J. Y., van Bever, Y., Bober, M. B., Clayton-Smith, J., Edrees, A. Y., Feingold, M., Fryer, A., van Hagen, J. M., Hennekam, R. C., Jansweijer, M. C. E., Johnson, D., Kant, S. G., Opitz, J. M., Ramadevi, A. R., Reardon, W., Ross, A., ... Bongers, E. M. H. F. (2012). Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics, 20(6), 598-606. https://doi.org/10.1038/ejhg.2011.269

de Munnik, S.A. ; Bicknell, L.S. ; Aftimos, S. ; Al-Aama, J.Y. ; van Bever, Y. ; Bober, M.B. ; Clayton-Smith, J. ; Edrees, A.Y. ; Feingold, M. ; Fryer, A. ; van Hagen, J.M. ; Hennekam, R.C. ; Jansweijer, M.C.E. ; Johnson, D. ; Kant, S.G. ; Opitz, J.M. ; Ramadevi, A.R. ; Reardon, W. ; Ross, A. ; Sarda, P. ; Schrander-Stumpel, C. ; Schoots, J. ; Temple, I.K. ; Terhal, P.A. ; Toutain, A. ; Wise, C.A. ; Wright, M. ; Skidmore, D.L. ; Samuels, M.E. ; Hoefsloot, L.H. ; Knoers, N.V.A.M. ; Brunner, H.G. ; Jackson, A.P. ; Bongers, E.M.H.F. / Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. In: European Journal of Human Genetics. 2012 ; Vol. 20, No. 6. pp. 598-606.

@article{3579c75e95db4b24926baeab3a535c7d,

title = "Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis",

author = "{de Munnik}, S.A. and L.S. Bicknell and S. Aftimos and J.Y. Al-Aama and {van Bever}, Y. and M.B. Bober and J. Clayton-Smith and A.Y. Edrees and M. Feingold and A. Fryer and {van Hagen}, J.M. and R.C. Hennekam and M.C.E. Jansweijer and D. Johnson and S.G. Kant and J.M. Opitz and A.R. Ramadevi and W. Reardon and A. Ross and P. Sarda and C. Schrander-Stumpel and J. Schoots and I.K. Temple and P.A. Terhal and A. Toutain and C.A. Wise and M. Wright and D.L. Skidmore and M.E. Samuels and L.H. Hoefsloot and N.V.A.M. Knoers and H.G. Brunner and A.P. Jackson and E.M.H.F. Bongers",

year = "2012",

doi = "10.1038/ejhg.2011.269",

language = "Undefined/Unknown",

volume = "20",

pages = "598--606",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "6",

}

de Munnik, SA, Bicknell, LS, Aftimos, S, Al-Aama, JY, van Bever, Y, Bober, MB, Clayton-Smith, J, Edrees, AY, Feingold, M, Fryer, A, van Hagen, JM, Hennekam, RC, Jansweijer, MCE, Johnson, D, Kant, SG, Opitz, JM, Ramadevi, AR, Reardon, W, Ross, A, Sarda, P, Schrander-Stumpel, C, Schoots, J, Temple, IK, Terhal, PA, Toutain, A, Wise, CA, Wright, M, Skidmore, DL, Samuels, ME, Hoefsloot, LH, Knoers, NVAM, Brunner, HG, Jackson, AP & Bongers, EMHF 2012, 'Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis', European Journal of Human Genetics, vol. 20, no. 6, pp. 598-606. https://doi.org/10.1038/ejhg.2011.269

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. / de Munnik, S.A.; Bicknell, L.S.; Aftimos, S.; Al-Aama, J.Y.; van Bever, Y.; Bober, M.B.; Clayton-Smith, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; van Hagen, J.M.; Hennekam, R.C.; Jansweijer, M.C.E.; Johnson, D.; Kant, S.G.; Opitz, J.M.; Ramadevi, A.R.; Reardon, W.; Ross, A.; Sarda, P.; Schrander-Stumpel, C.; Schoots, J.; Temple, I.K.; Terhal, P.A.; Toutain, A.; Wise, C.A.; Wright, M.; Skidmore, D.L.; Samuels, M.E.; Hoefsloot, L.H.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

In: European Journal of Human Genetics, Vol. 20, No. 6, 2012, p. 598-606.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

AU - de Munnik, S.A.

AU - Bicknell, L.S.

AU - Aftimos, S.

AU - Al-Aama, J.Y.

AU - van Bever, Y.

AU - Bober, M.B.

AU - Clayton-Smith, J.

AU - Edrees, A.Y.

AU - Feingold, M.

AU - Fryer, A.

AU - van Hagen, J.M.

AU - Hennekam, R.C.

AU - Jansweijer, M.C.E.

AU - Johnson, D.

AU - Kant, S.G.

AU - Opitz, J.M.

AU - Ramadevi, A.R.

AU - Reardon, W.

AU - Ross, A.

AU - Sarda, P.

AU - Schrander-Stumpel, C.

AU - Schoots, J.

AU - Temple, I.K.

AU - Terhal, P.A.

AU - Toutain, A.

AU - Wise, C.A.

AU - Wright, M.

AU - Skidmore, D.L.

AU - Samuels, M.E.

AU - Hoefsloot, L.H.

AU - Knoers, N.V.A.M.

AU - Brunner, H.G.

AU - Jackson, A.P.

AU - Bongers, E.M.H.F.

PY - 2012

Y1 - 2012

U2 - 10.1038/ejhg.2011.269

DO - 10.1038/ejhg.2011.269

M3 - Article

C2 - 22333897

VL - 20

SP - 598

EP - 606

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 6

ER -