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. Radha Ramadevi; W. Reardon; A. Ross; P. Sarda; C.T.R.M. Schrander-Stumpel; J. Schoots; 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.H.M.F. Bongers

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

Translated title of the contribution: 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. Radha Ramadevi
, W. Reardon
, A. Ross
, P. Sarda

C.T.R.M. Schrander-Stumpel, J. Schoots, 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.H.M.F. Bongers

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

Translated title of the contribution	Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Original language	Undefined/Unknown
Pages (from-to)	598-606
Number of pages	9
Journal	European Journal of Human Genetics
Volume	20
Issue number	6
Publication status	Published - 2012

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed?term=22333897

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., Radha Ramadevi, A., Reardon, W., Ross, A., ... Bongers, E. H. M. 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. http://www.ncbi.nlm.nih.gov/pubmed?term=22333897

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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 \{Radha Ramadevi\}, A. and W. Reardon and A. Ross and P. Sarda and C.T.R.M. Schrander-Stumpel and J. Schoots and 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.H.M.F. Bongers",

year = "2012",

language = "Undefined/Unknown",

volume = "20",

pages = "598--606",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

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, Radha Ramadevi, A, Reardon, W, Ross, A, Sarda, P, Schrander-Stumpel, CTRM, Schoots, J, Temple, K, Terhal, PA, Toutain, A, Wise, CA, Wright, M, Skidmore, DL, Samuels, ME, Hoefsloot, LH, Knoers, NVAM, Brunner, HG, Jackson, AP & Bongers, EHMF 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. <http://www.ncbi.nlm.nih.gov/pubmed?term=22333897>

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 - Radha Ramadevi, A.

AU - Reardon, W.

AU - Ross, A.

AU - Sarda, P.

AU - Schrander-Stumpel, C.T.R.M.

AU - Schoots, J.

AU - Temple, 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.H.M.F.

PY - 2012

Y1 - 2012

M3 - Article

SN - 1018-4813

VL - 20

SP - 598

EP - 606

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -