-
1
-
-
0001445647
-
Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder
-
Sotos JF, Dodge PR, Muirhead D, et al: Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964;271:109-116.
-
(1964)
N Engl J Med
, vol.271
, pp. 109-116
-
-
Sotos, J.F.1
Dodge, P.R.2
Muirhead, D.3
-
2
-
-
0028078759
-
Sotos syndrome: A study of the diagnostic criteria and natural history
-
Cole TR, Hughes HE: Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
-
(1994)
J Med Genet
, vol.31
, pp. 20-32
-
-
Cole, T.R.1
Hughes, H.E.2
-
3
-
-
18544384537
-
Haploinsufficiency of NSD1 causes Sotos syndrome
-
Kurotaki N, Imaizumi K, Harada N, et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002;30:365-366.
-
(2002)
Nat Genet
, vol.30
, pp. 365-366
-
-
Kurotaki, N.1
Imaizumi, K.2
Harada, N.3
-
4
-
-
10744221892
-
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
-
Kurotaki N, Harada N, Shimokawa O, et al: Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mutat 2003;22:378-387.
-
(2003)
Hum Mutat
, vol.22
, pp. 378-387
-
-
Kurotaki, N.1
Harada, N.2
Shimokawa, O.3
-
5
-
-
0037217478
-
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
-
Douglas J, Hanks S, Temple K et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003;72:132-143.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 132-143
-
-
Douglas, J.1
Hanks, S.2
Temple, K.3
-
6
-
-
0038207021
-
Spectrum of NSD1 mutations in Sotos and Weaver syndromes
-
Rio M, Clech L, Amiel J, et al: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003;40:436-440.
-
(2003)
J Med Genet
, vol.40
, pp. 436-440
-
-
Rio, M.1
Clech, L.2
Amiel, J.3
-
7
-
-
10744226545
-
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
-
Turkmen S, Gillessen-Kaesbach G, Meinecke P, et al: Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet 2003;11:858-865.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 858-865
-
-
Turkmen, S.1
Gillessen-Kaesbach, G.2
Meinecke, P.3
-
8
-
-
20144387331
-
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
-
Cecconi M, Forzano F, Milani D, et al: Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A 2005;30: 247-253.
-
(2005)
Am J Med Genet A
, vol.30
, pp. 247-253
-
-
Cecconi, M.1
Forzano, F.2
Milani, D.3
-
10
-
-
22544456244
-
Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations
-
Tatton-Brown K, Douglas J, Coleman K, et al: Genotype-phenotype associations in Sotos syndrome: An analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 2005;77:193-204.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 193-204
-
-
Tatton-Brown, K.1
Douglas, J.2
Coleman, K.3
-
11
-
-
0035965764
-
Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene
-
Kurotaki N, Harada N, Yoshiura K, et al: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 2001;279:197-204.
-
(2001)
Gene
, vol.279
, pp. 197-204
-
-
Kurotaki, N.1
Harada, N.2
Yoshiura, K.3
-
12
-
-
0037599617
-
NSD1 is essential for early post-implantation development and has a catalytically active SET domain
-
Rayasam GV, Wendling O, Angrand PO, et al: NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 2003;22:3153-3163.
-
(2003)
EMBO J
, vol.22
, pp. 3153-3163
-
-
Rayasam, G.V.1
Wendling, O.2
Angrand, P.O.3
-
13
-
-
16644397414
-
Clinical features of NSD1-positive Sotos syndrome
-
Tatton-Brown K, Rahman N: Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol 2004;13:199-204.
-
(2004)
Clin Dysmorphol
, vol.13
, pp. 199-204
-
-
Tatton-Brown, K.1
Rahman, N.2
-
14
-
-
0034645523
-
Sacrococcygeal teratoma in two cases of Sotos syndrome
-
Leonard NJ, Cole T, Bhargava R, et al: Sacrococcygeal teratoma in two cases of Sotos syndrome. Am J Med Genet 2000;95: 182-184.
-
(2000)
Am J Med Genet
, vol.95
, pp. 182-184
-
-
Leonard, N.J.1
Cole, T.2
Bhargava, R.3
-
15
-
-
0029834621
-
Lymphoproliferative disorders in Sotos syndrome: Observation of two cases
-
Corsello G, Giuffre M, Carcione A, et al: Lymphoproliferative disorders in Sotos syndrome: Observation of two cases. Am J Med Genet 1996;64:588-593.
-
(1996)
Am J Med Genet
, vol.64
, pp. 588-593
-
-
Corsello, G.1
Giuffre, M.2
Carcione, A.3
|