-
1
-
-
78649631190
-
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients
-
Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J. 2010. Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. J Med Genet 47: 816-822.
-
(2010)
J Med Genet
, vol.47
, pp. 816-822
-
-
Bruce, S.1
Hannula-Jouppi, K.2
Puoskari, M.3
Fransson, I.4
Simola, K.O.5
Lipsanen-Nyman, M.6
Kere, J.7
-
2
-
-
67349129054
-
The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
-
Buysse K, Reardon W, Mehta L, Costa T, Fagerstrom C, Kingsbury DJ, Anadiotis G, McGillivray BC, Hellemans J, de Leeuw N, de Vries BB, Speleman F, Menten B, Mortier G. 2009. The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height. Eur J Med Genet 52: 101-107.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 101-107
-
-
Buysse, K.1
Reardon, W.2
Mehta, L.3
Costa, T.4
Fagerstrom, C.5
Kingsbury, D.J.6
Anadiotis, G.7
McGillivray, B.C.8
Hellemans, J.9
de Leeuw, N.10
de Vries, B.B.11
Speleman, F.12
Menten, B.13
Mortier, G.14
-
3
-
-
79955766886
-
The 12q14 microdeletion syndrome: Six new cases confirming the role of HMGA2 in growth
-
Lynch SA, Foulds N, Thuresson AC, Collins AL, Anneren G, Hedberg BO, Delaney CA, Iremonger J, Murray CM, Crolla JA, Costigan C, Lam W, Fitzpatrick DR, Regan R, Ennis S, Sharkey F. 2011. The 12q14 microdeletion syndrome: Six new cases confirming the role of HMGA2 in growth. Eur J Hum Genet 19: 534-539.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 534-539
-
-
Lynch, S.A.1
Foulds, N.2
Thuresson, A.C.3
Collins, A.L.4
Anneren, G.5
Hedberg, B.O.6
Delaney, C.A.7
Iremonger, J.8
Murray, C.M.9
Crolla, J.A.10
Costigan, C.11
Lam, W.12
Fitzpatrick, D.R.13
Regan, R.14
Ennis, S.15
Sharkey, F.16
-
4
-
-
69249208746
-
Refinement of the 12q14 microdeletion syndrome: Primordial dwarfism and developmental delay with or without osteopoikilosis
-
Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A. 2009. Refinement of the 12q14 microdeletion syndrome: Primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet 17: 1141-1147.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1141-1147
-
-
Mari, F.1
Hermanns, P.2
Giovannucci-Uzielli, M.L.3
Galluzzi, F.4
Scott, D.5
Lee, B.6
Renieri, A.7
Unger, S.8
Zabel, B.9
Superti-Furga, A.10
-
5
-
-
79953194483
-
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism
-
Mejias R, Adamczyk A, Anggono V, Niranjan T, Thomas GM, Sharma K, Skinner C, Schwartz CE, Stevenson RE, Fallin MD, Kaufmann W, Pletnikov M, Valle D, Huganir RL, Wang T. 2011. Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism. Proc Natl Acad Sci USA 108: 4920-4925.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 4920-4925
-
-
Mejias, R.1
Adamczyk, A.2
Anggono, V.3
Niranjan, T.4
Thomas, G.M.5
Sharma, K.6
Skinner, C.7
Schwartz, C.E.8
Stevenson, R.E.9
Fallin, M.D.10
Kaufmann, W.11
Pletnikov, M.12
Valle, D.13
Huganir, R.L.14
Wang, T.15
-
6
-
-
34247113709
-
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
-
Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G. 2007. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 44: 264-268.
-
(2007)
J Med Genet
, vol.44
, pp. 264-268
-
-
Menten, B.1
Buysse, K.2
Zahir, F.3
Hellemans, J.4
Hamilton, S.J.5
Costa, T.6
Fagerstrom, C.7
Anadiotis, G.8
Kingsbury, D.9
McGillivray, B.C.10
Marra, M.A.11
Friedman, J.M.12
Speleman, F.13
Mortier, G.14
-
7
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 1999. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36: 837-842.
-
(1999)
J Med Genet
, vol.36
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
Preece, M.A.4
Trembath, R.C.5
-
8
-
-
77953727872
-
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome
-
Spengler S, Schonherr N, Binder G, Wollmann HA, Fricke-Otto S, Muhlenberg R, Denecke B, Baudis M, Eggermann T. 2010. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): The SRS phenotype overlaps with the 12q14 microdeletion syndrome. J Med Genet 47: 356-360.
-
(2010)
J Med Genet
, vol.47
, pp. 356-360
-
-
Spengler, S.1
Schonherr, N.2
Binder, G.3
Wollmann, H.A.4
Fricke-Otto, S.5
Muhlenberg, R.6
Denecke, B.7
Baudis, M.8
Eggermann, T.9
-
9
-
-
0029094755
-
Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C
-
Zhou X, Benson KF, Ashar HR, Chada K. 1995. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C. Nature 376: 771-774.
-
(1995)
Nature
, vol.376
, pp. 771-774
-
-
Zhou, X.1
Benson, K.F.2
Ashar, H.R.3
Chada, K.4
|