-
1
-
-
79953198187
-
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
-
BICKNELL L.S., BONGERS E.M.H.F., LEITCH A., BROWN S., SCHOOTS J., HARLEY M.E., AFTIMOS S., AL-AAMA J.Y., BOBER M., BROWN P.A.J., VAN BOKHOVEN H., DEAN J., EDREES A.Y., FEINGOLD M., FRYER A., HOEFSLOOT L.H., KAU N., KNOERS N.V.A.M., MACKENZIE J., OPITZ J.M., SARDA P., ROSS A., TEMPLE I.K., TOUTAIN A., WISE C.A., WRIGHT M., JACKSON A.P.: Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat. Genet., 2011, 43, 356-360.
-
(2011)
Nat. Genet.
, vol.43
, pp. 356-360
-
-
Bicknell, L.S.1
Bongers, E.M.H.F.2
Leitch, A.3
Brown, S.4
Schoots, J.5
Harley, M.E.6
Aftimos, S.7
Al-Aama, J.Y.8
Bober, M.9
Brown, P.A.J.10
Van Bokhoven, H.11
Dean, J.12
Edrees, A.Y.13
Feingold, M.14
Fryer, A.15
Hoefsloot, L.H.16
Kau, N.17
Knoers, N.V.A.M.18
Mackenzie, J.19
Opitz, J.M.20
Sarda, P.21
Ross, A.22
Temple, I.K.23
Toutain, A.24
Wise, C.A.25
Wright, M.26
Jackson, A.P.27
more..
-
2
-
-
0035426051
-
Meier-Gorlin Syndrome: Report of eight additional cases and review
-
BONGERS E.M.H.F., OPITZ J.M., FRYER A., SARDA P., HENNEKAM R.C.M., HALL B.D., SUPERNEAU D.W., HARBISON M., POSS A., VAN BOKHOVEN H., HAMEL B.C.J., KNOERS N.V.A.M.: Meier-Gorlin Syndrome: Report of eight additional cases and review. Am. J. Med. Genet., 2001, 102, 115-124.
-
(2001)
Am. J. Med. Genet.
, vol.102
, pp. 115-124
-
-
Bongers, E.M.H.F.1
Opitz, J.M.2
Fryer, A.3
Sarda, P.4
Hennekam, R.C.M.5
Hall, B.D.6
Superneau, D.W.7
Harbison, M.8
Poss, A.9
Van Bokhoven, H.10
Hamel, B.C.J.11
Knoers, N.V.A.M.12
-
3
-
-
0036134787
-
Meier-Gorlin syndrome (Ear-Patella-Short Stature Syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes
-
COHEN A., MULAS R., SERI M., GAIERO A., FICHERA G., MARINI M., BAFFICO M., CAMERA G.: Meier-Gorlin syndrome (Ear-Patella-Short Stature Syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. Am. J. Med. Genet., 2002, 107, 48-51.
-
(2002)
Am. J. Med. Genet.
, vol.107
, pp. 48-51
-
-
Cohen, A.1
Mulas, R.2
Seri, M.3
Gaiero, A.4
Fichera, G.5
Marini, M.6
Baffico, M.7
Camera, G.8
-
4
-
-
84862820018
-
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.I., 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.T.R.M., SCHOOTS J., TEMPLE I.K., TERHAL P.A., TOUTAIN A., AWISE C., 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. Eur. J. Hum. Genet., 2012, 20, 598-606.
-
(2012)
Eur. J. Hum. Genet.
, vol.20
, pp. 598-606
-
-
De Munnik, S.A.1
Bicknell, L.S.2
Aftimos, S.3
Al-Aama, J.I.4
Van Bever, Y.5
Bober, M.B.6
Clayton-Smith, J.7
Edrees, A.Y.8
Feingold, M.9
Fryer, A.10
Van Hagen, J.M.11
Hennekam, R.C.12
Jansweijer, M.C.E.13
Johnson, D.14
Kant, S.G.15
Opitz, J.M.16
Ramadevi, A.R.17
Reardon, W.18
Ross, A.19
Sarda, P.20
Schrander-Stumpel, C.T.R.M.21
Schoots, J.22
Temple, I.K.23
Terhal, P.A.24
Toutain, A.25
Awise, C.26
Wright, M.27
Skidmore, D.L.28
Samuels, M.E.29
Hoefsloot, L.H.30
Knoers, N.V.A.M.31
Brunner, H.G.32
Jackson, A.P.33
Bongers, E.M.H.F.34
more..
-
5
-
-
0016823593
-
A selected miscellany
-
GORLIN R.J., CERVENKA J., MOLLER K., HORROBIN M., WITKOP C.J. JR.: A selected miscellany. Birth Defects, 1975, 11, 39-50.
-
(1975)
Birth Defects
, vol.11
, pp. 39-50
-
-
Gorlin, R.J.1
Cervenka, J.2
Moller, K.3
Horrobin, M.4
Witkop Jr., C.J.5
-
6
-
-
79953203480
-
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
-
GUERNSEY D.L., MATSUOKA M., JIANG H., EVANS S., MACGILLIVRAY C., NIGHTINGALE M., PERRY S., FERGUSON M., LEBLANC M., PAQUETTE J., PATRY L., RIDEOUT A.L., THOMAS A., ORR A., MCMASTER C.R., MICHAUD J.L., DEAL C., LANGLOIS S., SUPERNEAU D.W., PARKASH S., LUDMAN M, SKIDMORE D.L., SAMUELS M.E.: Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat. Genet., 2011, 43, 360-365.
-
(2011)
Nat. Genet.
, vol.43
, pp. 360-365
-
-
Guernsey, D.L.1
Matsuoka, M.2
Jiang, H.3
Evans, S.4
MacGillivray, C.5
Nightingale, M.6
Perry, S.7
Ferguson, M.8
Leblanc, M.9
Paquette, J.10
Patry, L.11
Rideout, A.L.12
Thomas, A.13
Orr, A.14
McMaster, C.R.15
Michaud, J.L.16
Deal, C.17
Langlois, S.18
Superneau, D.W.19
Parkash, S.20
Ludman, M.21
Skidmore, D.L.22
Samuels, M.E.23
more..
-
7
-
-
0033532170
-
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs
-
LOEYS B.L., LEMMERLING M.M., VAN MOL C.E., LEROY J.G.: The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. Am. J. Med. Genet., 1999, 84, 61-67.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 61-67
-
-
Loeys, B.L.1
Lemmerling, M.M.2
Van Mol, C.E.3
Leroy, J.G.4
-
8
-
-
70449289263
-
Ein fall von arthrogryposis multiplex congenita kombiniert mit dysostosis mandibulofacialis (Franceschetti-syndrom)
-
MEIER Z, POSCHIAVO J., ROTHSCHILD M.: Ein fall von arthrogryposis multiplex congenita kombiniert mit dysostosis mandibulofacialis (Franceschetti-syndrom). Helv. Paed. Acta., 1959, 14, 213-216.
-
(1959)
Helv. Paed. Acta.
, vol.14
, pp. 213-216
-
-
Meier, Z.1
Poschiavo, J.2
Rothschild, M.3
-
9
-
-
84875989545
-
Deficiency in origin licensing proteins impairs cilia formation: Implications for the aetiology of Meier-Gorlin syndrome
-
STIFF T., ALAGOZ M., ALCANTARA D., OUTWIN E., BRUNNER H.G., BONGERS E.H.F., O'DRISCOLL M., JEGGO P.A.: Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet., 2013, 9, e1003360.
-
(2013)
PLoS Genet.
, vol.9
-
-
Stiff, T.1
Alagoz, M.2
Alcantara, D.3
Outwin, E.4
Brunner, H.G.5
Bongers, E.H.F.6
O'Driscoll, M.7
Jeggo, P.A.8
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